Vampirism is a disease, symptoms and causes of the disease. Hepatic porphyria

They are afraid of the sun. There are very few of them. Some people have red urine. This is inherited. And they are not vampires, but patients of geneticists and dermatologists diagnosed with porphyria. How to recognize this disease? How to treat and how to live with such a diagnosis?

Table of contents:

Porphyrins: a little anatomy

Porphyria is a collective concept denoting a number of pathological processes associated with impaired porphyrin production. This substance is involved in the formation of hemoglobin.

Porphyrin is a red crystal that forms in the liver and bone marrow. This organic compound necessary for heme production. This protein compound is involved in the transfer of oxygen to tissues and colors the blood red.

Heme production requires the presence of 8 enzymes. If any of the components is missing, then heme begins to accumulate in the tissues.

An excess of porphyrin compounds in the body causes increased sensitivity skin to ultraviolet radiation, destruction and spasm of blood vessels, and the development of pain.

The reason for the disruption of heme synthesis and the appearance of excess porphyrins is disturbances in the human genome.

Please note

The mutation can be transmitted both with a recessive pair and with dominant gene. Depending on which pair of genes is involved, symptoms characteristic of a particular type of disease develop.

Additional provoking factors:

bad habits;
hormonal imbalance;
infections;
taking medications;
excess ultraviolet radiation.

These conditions are not the real reason diseases, but can provoke an exacerbation pathological process in the body.

Types and symptoms of the disease

Please note

Porphyria is common name disorders of portyphyrin metabolism. Various types pathologies differ from each other in symptoms and affect different groups age groups. Patient management may vary.

Activation of pathological processes occurs mainly in the warm season - spring and summer. In severe cases, the disease occurs year-round, without periods of remission.

Congenital erythropoietic porphyria

This type of pathology is inherited using recessive genes. Both parents have such disrupted sections of chromosomes in their genotype, but remain healthy. Disturbances in porphyrin metabolism are observed only in offspring, often in all brothers and sisters in one generation.

Symptoms appear already in infancy. The baby has:

Patients with this diagnosis either become disabled or die at an early age.

Erythropoietic protoporphyria

This is the form hereditary disease also manifests itself in childhood. But the violation is transmitted according to the dominant principle. That is, if one of the parents is sick, then all the offspring will inherit this pathology.

This type of disease occurs in more mild form than erythropoietic porphyria.

Symptoms of the pathological process:

increased sensitivity to ultraviolet radiation;
change in the blood formula, development;
the level of porphyrins in the blood is normal, but the levels of protoporphyrin in the plasma are increased.

During an exacerbation of the disease, the skin is affected and blisters form. But after treatment, scar changes do not occur in the dermis.

Erythropoietic coproporphyria

A rare form of pathology. Also inherited from a dominant carrier. The symptoms are vague and often the disease does not manifest itself for a long time. Hypersensitivity to ultraviolet radiation is mild.

The onset of the pathological process is provoked by taking medications from the “” group. At debut or exacerbation in laboratory tests note increased value coproporphyrins. Sometimes the figures exceed normal values 80 times.

Urocoproporphyria or late form of pathology

This disease is closely related to the environment and lifestyle of a person. The main contingent of patients with urocoporphyria are residents of megacities with actively developed chemical and heavy industries. Heredity does not play a decisive role in the development of this pathology.

The disease begins to develop at the age of 30 in people who abuse alcoholic beverages.

Symptoms of this type of porphyria:

the appearance of blisters on the body filled with purulent or serous contents. The diameter of the wounds can reach up to 20 cm;
increased values of porphyrins in biological fluids;
disturbances in the functioning of the liver and bile ducts;
areas of hyperpigmentation on exposed skin;
adjacent areas of tissue with blisters are inflamed and swollen;
Nikolsky syndrome - damage to the dermis with minor mechanical impact. For example, when drying your hands with a towel;
2 weeks after the appearance of blisters, red, pink or gray scars form in their place;
When the disease worsens, the growth rate of eyelashes and eyebrows increases. During the period of remission, such symptoms are not observed;
deformation, hyperkeratosis of nails. Often – complete loss of nail plates.

There are 2 types of disease - a simple form of porphyria and a dystrophic one. In the first type of pathology, exacerbations occur only in the summer or during ultraviolet irradiation. In the second case, the disease occurs year-round without periods of remission. This form of porphyria affects not only the skin, but also leads to changes in all organs and tissues of the body.

On late stages disease is observed:

high or low blood pressure;
and other pains;
disorders in the eye system - inflammatory processes, the appearance of ulceration blisters in the sclera, dis trophic changes in organ tissues;
fibrous and cirrhotic cords in liver tissue.

Acute intermittent porphyria

This form of the disease is transmitted according to a dominant principle. It is characterized by severe neurological conditions. The period of exacerbation of the disease can result in death.

The patient has:

epigastric pain;
pink urine;
neuritis, polyneuritis, parasthesia;
coma.

Death Causes Paralysis respiratory system or complete exhaustion body. Relatives may not experience active symptoms, But laboratory tests will show changes in porphrin levels.

Hereditary coproporphyria

The symptoms of the disease are vague, but during the period of remission they are similar to the signs of intermittent porphyria. IN calm state the disorder is detected only in urine and stool tests.

Treatment tactics and diagnostic measures

Diagnosis of the disease is carried out using visual inspection skin examination, family history and tests biological fluids for the presence of porphyrins.

At the present stage of development of medicine effective treatment porphyria does not exist. The main method of reducing the number of exacerbations of the disease is to carefully protect the patient from ultraviolet radiation, alcohol, and medications that can cause a relapse.

What doctors can offer to treat porphyria:

Antimalarial drugs - they help remove porphyrins from the body in urine.
Vitamin complexes - injection, nicotine and.
Methionine – to improve regeneration processes.
Antiseptic preparations for local treatment of wound surfaces.
Glucose in large doses.
Calcium chloride as a stimulant protective forces body, anti-inflammatory agent.

Porphyrins and other heme precursors can accumulate in the body

Porphyria is a group of diseases in which there is a problem with the production of heme in the body. Heme is used to produce hemoglobin in red blood cells. There are seven different types of porphyria disease, which in most cases is inherited. Each type is caused by a deficiency of one of the enzymes that controls one of the stages in heme synthesis. This means that substances produced during the process leading to heme synthesis (including porphyrins) can accumulate in the body and cause symptoms. It is important to correctly diagnose the type of this disease. After all, different types of porphyria can have various symptoms and have different effects on the body. Symptoms of porphyria disease vary greatly and may include: abdominal pain, problems with the nervous system, mental health and with skin. If you have this disease, you should not take certain drugs or alcohol, as they can trigger an attack of porphyria.

Types of porphyria

Porphyria disease is a group metabolic disorders associated with impaired heme synthesis. Heme is used to produce red blood cells, which transport oxygen to all cells of the body. Heme is also used to synthesize a number of proteins in the body needed for various important functions.
Exists complex process in the liver and erythrocytes, causing heme synthesis. This process has different stages and each stage is controlled by a special enzyme. At each stage, heme precursors (porphyrins) are produced. There are 7 different types of porphyria. Each type of porphyria is missing, in whole or in part, one of the enzymes that controls one of the steps in creating heme. As a result, there is an overproduction of heme precursors and porphyrins. Porphyrins and other heme precursors can accumulate in the body and cause various problems associated with porphyria. When porphyrins accumulate in the skin, it becomes very sensitive to sunlight and this causes the symptoms of cutaneous porphyria. The buildup of other heme precursors in the liver and elsewhere in the body causes the symptoms that occur during acute attacks of porphyria.

Porphyria is a group of diseases

The porphyrias are a group of diseases, each named after a missing enzyme. The disease is usually classified according to the effects it has on the body and its characteristic symptoms.

Symptoms of acute porphyria can vary. The most common symptom is abdominal tightness (stomach pain). The nervous system is also widely affected and can cause symptoms such as muscle weakness and numbness in different parts bodies. This disease can also cause psychiatric problems, including agitation, mania, depression and hallucinations. Acute porphyria includes: 1) acute intermittent porphyria; 2) aminolevulinic acid dehydratase porphyria (plumboporphyria).

Cutaneous porphyria. This type of disease especially affects the skin. Cutaneous porphyria includes: 1) porphyria cutanea tarda; 2) erythropoietic protoporphyria; congenital erythropoietic porphyria (also known as Gunther's disease).

Mixed porphyrias. This type of disease can cause symptoms of acute and cutaneous porphyria to occur simultaneously. Therefore, they can cause stomach pain, affect the skin and nervous system, and can also cause psychiatric problems. Mixed porphyria includes: varied porphyria and hereditary corporaphyria.

The cause of porphyria is heredity

Most types of this disease are inherited. If you have inherited a defective gene, you may develop porphyria. Most types of porphyria run in families due to an autosomal dominant pattern of inheritance. This means that if you have porphyria (a faulty gene), there is a 50:50 chance that your child will inherit the faulty gene and develop the disease. An exception is porphyria cutanea tarda. In this case, in susceptible people, the cause of the disease is exposure to certain drugs or chemicals, including oral contraceptives and alcohol.
In general, porphyria disease is rare. The diagnosis may not be established because the symptoms of the disease are easily confused with other diseases. Porphyria cutanea tarda is the most common type of the disease worldwide (affecting 1 in 25,000 people). About 1 in 75,000 people may have an acute attack of porphyria.

Acute porphyria

The most common is acute intermittent porphyria. However, mixed porphyria can cause the same symptoms. Aminolevulinic acid dehydratase porphyria is very rare. With this type of porphyria, the symptoms have a wave-like course (in the form of an attack). In the intervals between attacks the person is healthy. The frequency and severity of attacks also varies widely between individuals. Doctors estimate that 75% of people who inherit the acute porphyria gene never experience an acute attack of the disease. An attack of this disease can be triggered by a number of factors: medications, smoking, alcohol, drugs, emotional disorder, pregnancy, menstruation, injury, surgical procedure, infection. There are certain medications (including herbal and over-the-counter medications) that should be avoided if you have this type of illness.

What happens during an acute attack of porphyria?

Most often, the first acute attack of porphyria can develop in the period from late adolescence up to 40 years old. The attack may last for one to two weeks. Most often, the attack begins with anxiety, restlessness and insomnia (difficulty sleeping). Severe abdominal pain may also occur, accompanied by nausea, vomiting, or constipation. Acceleration may occur heart rate and increase blood pressure blood. The urine may become dark or red in color because excess porphyrins will be excreted through the kidneys. Some people may develop muscle weakness during an acute attack of illness. This can affect not only the arms and legs, but in some cases also the muscles. chest(which leads to respiratory failure). Confusion and seizures may rarely occur; changes in mood from euphoria to depression or hallucinations. Some people have these mental problems may persist between attacks of porphyria. Rarely, may occur during an acute attack sudden death. It is thought that it may be associated with abnormal electrical activity of the heart (cardiac arrhythmia).

Diagnostics. A urine test will show whether porphyrins and related chemicals are present. In addition, there are more detailed analyzes, allowing you to determine the specific type of disease. This requires further analysis of urine and sometimes even stool and blood. Interestingly, between bouts of illness, urinary porphyrin levels may be normal. If one family member has been diagnosed with porphyria, other family members should also be tested.

Treatment of an acute attack of porphyria

In case of an acute attack of porphyria, you should seek help from a doctor. There are various steps in treating an attack of illness. Step 1: Identifying possible trigger factors can reduce the risk of an attack. In some cases, stopping the medication you are taking can stop an acute attack of porphyria. Step 2: symptomatic treatment. Treatment is aimed at controlling any symptoms that may be caused by an acute attack of porphyria. For example, for abdominal pain, painkillers may be prescribed, and for nausea and vomiting, antiemetics may be prescribed. Drugs can also be used to treat arrhythmia, hypertension, seizures, etc. Step 3: Closely monitor for the development of new symptoms. It is important that a person with this type of disease closely monitors any new symptoms (such as muscle weakness). Special attention attention should be paid to muscle weakness at the beginning of the chest, as this may impair breathing. If this happens, you may need help breathing with a ventilator. Step 4: Treatment aimed at reducing the buildup of porphyrins. As a rule, in case of an acute attack of porphyria, the drug heme arginate is prescribed. When administered intravenously, this drug helps reduce the overproduction of porphyrins. Treatment with heme arginate usually does not cause any problems, but sometimes causes inflammation of the veins around the injection site. Rarely, use of this drug may interfere with blood clotting. Very rarely, an allergic reaction to the administration of the drug is possible. Intravenous administration Heme arginate 1 or 2 times a week is used to treat some people to prevent recurrent attacks of the disease. If heme arginate is not available, oral or intravenous glucose is given, which may also help reduce the overproduction of porphyrins and other precursors. It can also help stop an attack of illness. For people with complications from attacks for whom other treatments have not responded, liver transplantation is successful.

Prognosis for patients with an acute attack of porphyria

Only a small proportion of people with porphyria have repeated acute attacks of the disease. Some people with a hereditary predisposition never have attacks of the disease, while others have one or more. Acute attacks of porphyria can be very severe, but they rarely end fatal. Most people who have one or more attacks of acute porphyria make a full recovery. These people can lead normal image life, but must avoid possible triggers of the disease. Rarely, an acute attack can lead to death. In a small proportion of people, due to repeated acute attacks porphyria may develop hypertension or chronic renal failure; Chronic liver damage is even rarer.

Cutaneous porphyria

This type of porphyria mainly affects the skin, causing rashes and other problems. Excess porphyrins can react with light, causing the skin to become light sensitive. There are various types diseases that can produce several different symptoms.

Porphyria cutanea tarda

This is the most common type of cutaneous porphyria. Symptoms characteristic of the disease can be first noticed by the age of 40. When your skin is exposed sunlight, redness occurs and blisters may appear. The skin becomes very fragile and can take a long time to heal. Itching of the skin may appear, in some areas there may be hyperpigmentation or overgrowth hair. The most commonly affected areas of the skin are the forehead, cheeks, ears and back side hands, but sun exposure can affect the entire skin. Some people with porphyria cutanea tarda may develop liver damage.

Porphyria cutanea tarda often runs in families, but many people have no family history of the disease. In some susceptible people, the disease may be caused by exposure to certain drugs or chemicals, including oral contraceptives and alcohol. Porphyria cutanea tarda can also occur against the background of another existing disease (hepatitis C, HIV, hemochromatosis, systemic lupus erythematosus, alcoholic illness liver and chronic active hepatitis). This disease is more common in men than in women. Porphyria cutanea tarda is diagnosed by measuring excess porphyrins and other heme precursors in urine, blood, and stool.

Treatment of porphyria cutanea tarda

Since skin problems can be caused by sun exposure, one of the main treatments is sun protection (clothing, sunscreen). Alcohol and drugs should be avoided ( birth control pills etc.). The drug chloroquine may be useful in treating this type of porphyria in some people. This drug increases the solubility of porphyrins, as a result of which they are better excreted in the urine. Some people with porphyria cutanea tarda may have iron buildup in their body. Excess iron can be removed using bloodletting.

Congenital erythropoietic porphyria

This is a very rare form of porphyria. It is also known as Gunther's disease. Symptoms are usually noticeable in childhood. Even when a child wears diapers, you may notice that his urine has acquired a red color. The skin of such children is extremely sensitive to sunlight; it may become red and blistered. These blisters may burst, and in their place ulcers form, which can easily become infected. In addition, after healing, ulcers sometimes form serious scars. Children with this type of porphyria may develop anemia and their liver may become enlarged. Possible treatments include a drug called chloroquine, splenectomy (removal of the spleen), and sometimes a bone marrow transplant.

Erythropoietic protoporphyria

Symptoms of the disease are usually noticeable in childhood, but they can appear for the first time at any age. Burning, itching and redness of the skin appears when exposed to sunlight. This type of porphyria does not cause blisters. Porphyrins and other precursors can accumulate in the liver and lead to liver failure. Stones may also form in gallbladder. This diagnosis is made by measuring the level of heme precursors in red blood cells. Treatment with carotene may be beneficial as it increases tolerance to sunlight. Liver and bone marrow transplants are also possible methods treatment.

Mixed porphyrias

Skin symptoms occur in about half of people with different types porphyria and about a third of people with hereditary coproporphyria. The skin rash is similar to that of porphyria cutanea tarda. Sometimes the only symptom of these mixed types of porphyria is skin rash. However, it is important to know the exact type of illness, since individuals with acute and mixed type porphyrias are at risk of developing neuropsychiatric attacks.

Porphyrias are a group of genetically determined diseases, which are characterized by an increase in the level of porphyrins, reactions of increased photosensitivity and/or damage nervous system.

Porphyrins (Greek porphyreis - dark red, purple) are compounds from which heme (the non-protein part of hemoglobin) is formed. Heme synthesis consists of 8 stages in which the corresponding enzymes participate. Their excess or deficiency leads to porphyria. IN pure form porphyrins are crystalline substances with a reddish color. In the body, these substances carry oxygen and participate in biological oxidation. Exogenous porphyrins come from outside with protein foods, while endogenous ones are produced in the body. In the bone marrow they participate in the synthesis of heme, in the liver - bile components. Excreted in urine and feces.

The existence of porphyrins and the disruption of their metabolism was first proven by H. Günther in 1901.

The symptoms of this disease have been known since ancient times. Porphyria is a disease that scientifically substantiates the existence of vampires. Their habitat, typical way of life, appearance indicate that vampires are people who suffered from porphyria. Patients with this disease experience increased photosensitivity and the appearance severe burns immediately after exposure to the sun. They are forced to lead an evening and nocturnal lifestyle.

Damage to cartilage leads to deformation of the ears and nose. Fingers become bent due to irreversible changes in the joints. The teeth and conjunctiva of the eyes of patients with porphyria have a reddish tint. The skin around the mouth becomes rough and dry. At the same time, it stretches and opens the fangs. An “animal grin” is formed. Due to the nature of the disease and forced restrictions in their lifestyle, such people often suffer mental disorders. The classic image of the vampire is completed by the fact that in the Middle Ages, fresh blood of warm-blooded animals was consumed as food to relieve the symptoms of porphyria.

In the Middle Ages, the level of population migration was minimal, consanguineous marriages were practiced, which led to a large number gene mutations. Therefore, legends about vampires usually point to secluded, inaccessible areas (for example, Transylvania).

Causes of the disease

Porphyria is in most cases genetically transmitted. Disorders in pigment metabolism are inherited in an autosomal dominant manner. The mutation affects the genes responsible for the formation of enzymes involved in biochemical processes formation of porphyrins.

The development of the disease is provoked by factors associated with increased hemoglobin synthesis and liver damage:

blood loss (during operations, injuries, in women - the onset of menstruation, childbirth);
taking medications (barbiturates - phenobarbital, Corvalol, griseofulvin in the treatment of fungal infections, oral contraceptives);
transferred serious illnesses liver (hepatitis);
poisoning with toxic substances (salts heavy metals, gasoline, alcohol).

Clinical picture and main symptoms of porphyria

There are several classifications of the disease. The most convenient is the division according to the place of origin - erythropoietic (in the bone marrow) and hepatic porphyrias.

Erythropoietic porphyrias are characterized by long course. They have a number of distinctive features:

begin in childhood;
symptoms appear spontaneously external factors have no influence;
the cause is fermentopathy due to a genetic mutation;
disruption of porphyrin synthesis is localized in the bone marrow;
A blood test revealed an increased level of porphyrins.

This group includes congenital erythropoietic porphyria (Gunther's disease), erythropoietic copro- and protoporphyria.

Gunther's disease

It appears in a child in the first year of life, less often in children over three years of age. The disease is detected in all nations, equally often in men and women.

Most obvious symptom- red coloration of urine. Skin manifestations diseases appear in spring and summer. When exposed to sunlight, blisters form on the skin. In case of secondary infection, their contents become purulent and ulcers form.

Congenital erythropoietic porphyria

Long lasting chronic disease. Cartilages are affected, most often of the ears and nose, and their deformation is noted. Occurs in the finger joints irreversible changes, they become curved, and nails often fall out. With porphyria, hypertrichosis (excessive hair growth) appears on the face. The teeth have a reddish tint. There is an enlargement of the spleen.

Blood tests show a decrease in platelets, changes in the shape, size and color of red blood cells (spherocytosis, anisocytosis). The level of uroporphyrins in the urine is increased.

Previously, the prognosis of patients was unfavorable. The disease was fatal before the age of 30. The causes of death were sepsis and hemolytic anemia. On at the moment these complications are treated with antibiotics. Removal of the spleen is indicated. In very severe cases, a bone marrow transplant. Patients survive to adulthood, but are not completely cured.

Erythropoietic protoporphyria

The disease is observed in residents of Eurasia and the Caucasian population of Africa.

Mostly men are affected. The disease has a long relapsing course.

Intermediate metabolic products - protoporphyrins - accumulate not only in erythrocytes, but also in liver cells, affecting them toxic effect. As a result, the level of porphyrins in the blood plasma increases. They infect skin cells, when destroyed, histamine is released and develop allergic reactions to sunlight.

Symptoms of protoporphyria are similar to other photodermatoses (solar urticaria, Bazin's pox).

A feature of this porphyria is excessive photosensitivity. Swelling, redness of the skin and blisters appear even when exposed to the infrared spectrum of sunlight passing through glass. Patients experience thickening of the skin around the eyes, mouth, and bridge of the nose. Cracks in the lip border may appear.

Erythropoietic coproporphyria is rare. Symptoms are similar to protoporphyria. The difference is that the content of coproporphyrins is increased in erythrocytes.

Therapy for proto- and coproporphyria consists of taking beta-carotene during periods of increased solar activity.

Treatment of such diseases is carried out by gastroenterologists and hepatologists.

It is advisable to prescribe hepatoprotectors, plasmapheresis, and administration of red blood cells.

This group includes: acute intermittent (intermittent), late cutaneous and variegated porphyrias and hereditary coproporphyria.

Such violations have the following features:

the disease begins in adulthood, less often in adolescence;
the presence of dyspeptic symptoms (abdominal pain, vomiting, diarrhea);
characterized by damage to the central nervous system and autonomic system;
During an exacerbation of the disease, the urine is red.

Acute intermittent porphyria

This disease is characterized acute course with severe damage to the nervous system.

Precursors of porphyrins accumulate in nerve cells, which disrupt the transmission of nerve impulses. Subsequently, damage to the neuron membrane leads to partial demyelination - specific damage nerve fibers.

The patient complains of abdominal pain without clear localization, increased blood pressure, and tachycardia. Damage to the peripheral nervous system is expressed in paresis of the limbs and impaired sensitivity. Paralysis of the diaphragm rarely occurs. If the central nervous system is involved in the process, acute psychosis, delusional states, hallucinations, and epileptic seizures are observed.

An important sign for the diagnosis of acute intermittent porphyria is the detection of high levels of porphobilinogen in urine tests.

Treatment is symptomatic. At severe course plasmapheresis is used.

Porphyria cutanea tarda

Men over 40 years of age are affected. The disease is characterized by increased trauma and photosensitivity of the skin. Exacerbations are observed in the spring and summer months.

Symptoms are expressed in the appearance of areas of hyperpigmentation and blisters on open areas of the skin of the face, neck, and hands. Hypertrichosis is noted. The skin is very vulnerable. Skin manifestations are combined with hepatomegaly (enlarged liver).

There is an increased content of uroporphyrin in the urine. Coproporphyrins are constantly present in feces.

Treatment is carried out antimalarial drugs. Delagil is capable of binding porphyrins to soluble complex, which is excreted in the urine. During an exacerbation, vitamin therapy is prescribed to correct metabolic disorders. In severe cases, glucocorticoids are added.

Variegate porphyria

This type of disease is characterized by a combination of signs of intermittent porphyria and manifestations of photosensitivity. With variegated porphyria, renal failure may occur.

The content of protoporphyrins is constantly increased in feces.

Hereditary coproporphyria

This form is also similar in symptoms to acute intermittent, but damage to the nervous system is less pronounced. Abdominal pain, paresis of the limbs, tachycardia, and sometimes photodermatitis are noted. Urine and feces tests reveal a sharp increase in coproporphyrin, but the content of uroporphyrin is normal.

Forecast

IN modern conditions porphyrias are successfully treated, the prognosis for life is usually favorable. Interestingly, many patients have latent forms of the disease. They are revealed only when biochemical research, if a close relative is diagnosed with any type of porphyria.

To prevent the disease, it is necessary to minimize the influence of provoking factors, avoid excessive insolation, and promptly treat liver and gastrointestinal diseases.

Porphyria is not separate disease, is the combined name for a group of hereditary diseases. With their development, a violation of pigment metabolism occurs with an increase in the level of porphyrins in the blood and tissues, as well as their release into copious amounts with urine and feces. Pathology has several varieties, differing in origin and characteristics of manifestation. Diagnosis is made by urine analysis. Conservative therapy is used to improve the condition.

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The mechanism of development of porphyria

Porphyria develops as a result of impaired heme synthesis. The main role of this compound in hemoglobin is to bind and transport oxygen from the lungs to organs and tissues. Heme is also included in the structures of substances that accumulate energy and participate in oxidation and reduction processes. With their participation, liver detoxification and breakdown of hydrogen peroxide occurs.

As a result of a lack of enzymes, the binding of heme and protein is disrupted, which is why the body accumulates large number intermediate substances (porphyrins), which are found in tissues, blood plasma, and are present in the patient’s feces. Enzymes involved in heme synthesis are usually found in the bone marrow, liver, kidneys, and the inner lining of the intestine.

Reasons

The main cause of the disorder is the transmission of the disorder from one close relative to another. But there are certain risk factors that increase the likelihood of the disease occurring, and sometimes provoke the development of porphyria in healthy person.Most often, pathology is formed under the influence of the following reasons:

long-term use of a series medicines(usually hormonal contraceptives or glucocorticoids);
alcohol poisoning;
abuse of strict diets and fasting;
inflammation and infectious intoxication of the liver;
unstable hormonal background(in women it often happens before the onset of menstruation);
traumatic brain injury and concussion;
weakening of the body by constant stress;
pathology cardiovascular system(coronary heart disease, angina, heart attack);
diabetes mellitus;
HIV infection;
dermatological diseases (pyoderma, psoriasis, skin eczema);
pregnancy.

Poisoning the body with alcohol often leads to metabolic disorders, when the level of porphyrins increases many times. Intoxication and exposure to viruses (especially hepatitis C) directly on liver cells also often provokes the development of hepatic porphyria.

Classification

Unified accepted international classification Porphyria does not exist. Based on its origin, it is divided into congenital and acquired. In the first case, the development of the disease is caused by an inherited defect in the gene responsible for heme synthesis. Acquired porphyria is formed against the background of one or more factors leading to the disorder.

Depending on where the changes in enzymatic activity are located, the disease is divided into two large categories - hepatic and erythropoietic porphyria (Gunther's disease). The hepatic form is:

acute intermittent (AI);
late cutaneous;
mosaic;
variegated;
urocoproporphyria;
hereditary coproporphyria.

Erythropoietic is divided into uroporphyria and protoporphyria. By clinical picture secrete acute and chronic form diseases.

Clinical symptoms

Manifestations of porphyria depend on the cause and location of the pathological process. For all types of disease there is a combination common features, which are observed in different patients in a varying degree:

mental disorders;
hemolytic crises;
brown or red urine;
digestive disorders (constipation, vomiting);
photodermatosis;
the appearance of vesicles on the skin under the influence of sunlight.

Notice the sharp change in the skin, which begins to react strongly to solar radiation. In advanced stages, erosions, ulcers, cracks, signs of atrophy and aging are noted. Light form the illness worsens in summer period and occurs in the form of blisters on the surface of the dermis, which occur during the cold season.

Porphyria cutanea tarda (urocoproporphyria)

According to medical statistics, this type of disease is the most common. There are 3 main clinical forms porphyria cutanea tarda, depending on the degree of damage to the skin, nervous system and internal organs:

The cutaneous form is accompanied by an isolated skin disorder, while liver function indicators remain within normal limits.
The cutaneous-visceral type of pathology occurs against the background past diseases liver. Symptoms of the disease and dysfunction of hepatocytes are observed one or two years after acute hepatitis or intoxication. Laboratory tests determine signs of liver failure, and hepatomegaly occurs (significant enlargement of the liver).
The neurocutaneous form appears after injury with damage to the central nervous system. For her characteristic feature is the development of neurological symptoms. The patient experiences decreased or increased sensation in the hands and face, a sharp decrease in upper body weight, and muscle weakness upper limbs. At the same time, trophic disturbances occur, premature aging facial skin.

These types of disease are not always found in their pure form, so another form of the disease is distinguished - mixed. She most often accompanies alcoholics and drug addicts. Such patients have a history of tuberculosis, syphilis, brucellosis or malaria. In this case, disturbances of the nervous system and trophic changes are noted. Liver damage progresses and cirrhosis develops.

Acute intermittent

Refers to genetic abnormalities and is accompanied by damage to the central (and sometimes peripheral) nervous system. The development of the disease is provoked by pregnancy and childbirth, so this form is observed mainly in women. The reason may be medicines and surgery.

Accumulation toxic substance 8-aminolevulinic acid leads to its high concentration in the hypothalamus, which causes its damage. As it progresses, demyelination of nerve fibers occurs. Clinical manifestations consist in severe pain V abdominal cavity. In women, against this background, menstruation is delayed. The appearance of hallucinations, epileptic-type seizures, convulsions, high blood pressure.

Erythropoietic

Belongs to rare congenital pathologies. In this case, cracks form on the skin, and symptoms of hemolysis are noted. Sun intolerance is observed, and photosensitivity in this form of porphyria is the strongest, compared to other types of the disease.

Due to gene changes, a sharp decrease in the activity of uroporphyrinogen III synthetase and an increase in the synthesis of uroporphyrinogen I are revealed. The disease occurs in childhood and is accompanied by gradual atrophy of all tissues exposed to insolation (irradiation by sunlight). Anemia and enlarged spleen are noted.

Mosaic

It is a hereditary disease, the mechanism of its occurrence is a partial blocking of the transition of protoporphyrinogen to heme. The patient has partial enzymatic deficiency, which worsens due to stress.

In this case, the urine is significantly pigmented, and the photosensitivity of the skin is pronounced.

Variegated

Inheritance occurs in this form according to an autosomal dominant pattern. The accumulation of porphyrin in tissues occurs as a result of impaired activity of protoporphyrinogen.

Symptoms resemble acute intermittent porphyria - abdominal pain, neurological abnormalities. Sometimes kidney failure occurs.

Complications

Porphyria is difficult to treat, and when hereditary form the progression of the disease is difficult to control. As it progresses, multiple complications develop that lead to sharp deterioration quality of life and death of the patient.

Most often observed:

the appearance of gallstones;
paralysis and paresis due to damage to the nervous system;
dysfunction of the liver and kidneys up to the development of failure of these organs;
breathing problems;
mental disorders;
tissue atrophy, hair and nail loss.

Diagnostics

Diagnosis is based on the patient’s complaints, typical external manifestations. An important point When determining hereditary porphyria, the presence of the disease in close relatives is determined.

Confirmation of the diagnosis can be obtained through examination of stool, blood and urine tests. Usually, an excess amount of uroporphyrin and coproporphyrin is detected, and a lot of protoporphyrin is noted in the feces.

Treatment

Medicine does not yet have drugs that can affect the cause of the disease, so treatment is symptomatic. In some cases, relief and reduction in photosensitivity occurs after removal of the spleen. In case of acute intermittent porphyria, the use of tranquilizers and analgin should be avoided.

If there is pronounced pain syndrome, it can be stopped with the help of narcotic painkillers and Aminazine. It is recommended to reduce blood pressure using beta blockers (Obzidan, Inderal). Daily administration of a glucose solution helps reduce the production of porphyrins. Riboxin and ATP are used to improve metabolic reactions.

Removal of excess porphyrin in the urine during urocoproporphyria is carried out using Delagil. It binds to the substance and helps reduce its concentration in the blood and tissues. If the drugs are ineffective for a long time, the patient is given a course of therapy of 3 or 4 plasmapheresis with a break of 10 days. Part of the blood plasma is replaced during the donor procedure with solutions of Albumin and Polyglucin. To improve the condition of the liver, the doctor recommends hepatoprotectors. With Gunther's disease sometimes good result gives a bone marrow transplant.

The genetic disease porphyria has given rise to myths about the existence of vampires. The changes that occur in the human body in the presence of this pathology force a person to change his daily lifestyle to a night one and seriously change his appearance. Despite the development of modern medicine, porphyria is an incurable disease. You can only maintain the patient’s condition with the help of certain medications and a special regimen.

Porphyria disease is an incurable rare disease associated with impaired pigment secretion of the liver.

What is it?

A person suffering from porphyria was called a vampire in the Middle Ages.

Porphyrias are called hereditary diseases, characterized by a malfunction in porphyrin metabolism. As a result, the body increases the level of porphyrins - natural pigments that are produced by the liver and bone marrow for the formation of hemoglobin and a number of enzymes. Nowadays, porphyria is rarely diagnosed, but in the Middle Ages in European countries, due to frequent consanguineous marriages, it genetic disorder was not uncommon.

Causes of the disease

The most important porphyrin is the gene that makes human blood red. The process of synthesis of this substance occurs in 8 stages, at each of which a certain enzyme is included in the work. Violation of the process of heme production at one of the stages leads to one form or another of the disease porphyria. Congenital porphyrin disease is now rare. The impetus for a violation may be:

the use of medications containing phenobarbital, antifungal drugs, oral contraceptives;
chemical poisoning;
strict diet, fasting;
severe liver disease;
bad habits (smoking, drinking alcohol);
physical and mental fatigue;
increased iron content in the body;
prolonged exposure to the open sun;
blood loss (after surgery or injury, during childbirth).

Types of hepatic porphyrias

Hepatic porphyria occurs in 4 types and is characterized by the following properties:

The disease develops in mature age. It is rarely diagnosed among adolescents.
Symptoms of dyspepsia are observed ( painful sensations, vomiting, stool disorder).
The autonomic and central nervous systems are affected.
IN acute period urine turns red.

Acute intermittent form

The peculiarity of this type of disease is serious violation functioning of the nervous system. Nerve cells accumulate substances that precede porphyrins, which is why nerve impulses poorly transmitted. Over time, damage to the membranes nerve cells provokes damage to nerve fibers. The patient's sensitivity decreases, which leads to permanent injuries to the legs and arms. When the central nervous system is damaged, hallucinations, epileptic attacks occur, and the person becomes delusional.

Acute intermittent porphyria is diagnosed by high levels of porphobilinogen in the patient’s urine.

Late cutaneous form

Cutaneous porphyria affects men over 40 years of age. The peculiarity of the disease is the high level of traumatism and photosensitivity of the skin. Hyperpigmented areas appear on exposed areas of the body, and hypertrichosis develops ( active growth hair in places where they should not normally be). Skin becomes weak and vulnerable. At the same time, the liver enlarges. Pathology worsens in spring and summer.

Variegate porphyria

Features of this type of disease:

disturbances in the functioning of the nervous system;
increased skin sensitivity to sunlight;
development renal failure(optional);
high level content of protoporphyrins in feces.

Hereditary porphyria affects the nervous system, integument, and stomach.

The hereditary type of the disease is different:

disruption of the nervous system (weaker than in the intermittent form);
photodermatitis, tachycardia, abdominal pain, decreased sensitivity of the limbs, which provokes a high level of injuries;
the content of coproporphyrin increases in urine and feces.

Symptoms of the disease differ depending on the type of pathology. Overall for this genetic disorder The most typical signs are:

Acute abdominal pain is the onset of the most common intermittent type of illness.
Loss of strength, exhaustion of the body, weight loss, weakening protective functions body. The patient's mucous membranes are bleeding heavily.
Photosensitivity. Due to exposure to sunlight, the skin of a person with porphyria is damaged and bleeding ulcers form. This occurs as a result of the lack of a response from the body in the form of melanin synthesis. As a result, cutaneous porphyria leads to photophobia.

Porphyria disease affects the skin, gums, central nervous system, and musculoskeletal system.

The skin becomes thin and pale, especially around the mouth and eyes. The outlines of the skull can be guessed. The gums shrink, causing the teeth to feel like they have become long and sharp. When porphyrins are deposited in tooth enamel, teeth acquire a red tint. Due to such changes in appearance, the patient is considered to resemble a vampire.
The intensity of hair growth throughout the body increases. Bones become brittle.
Due to low hemoglobin, a patient with porphyria has a desire to drink blood. Of course, when hemoglobin enters the stomach with blood, it has no effect.
As a result of constant oxygen starvation, intoxication, changes in appearance, the need to be nocturnal and hide from people, patients with porphyria develop neurological and mental pathologies. Outbursts of uncontrollable rage and attacks of epilepsy are possible.