Porphyria (disease): symptoms, causes, treatment

The general term "porphyria" refers to a group of disorders caused by the pathological accumulation of natural chemical compounds involved in the synthesis of porphyrin. Porphyrins are essential for the normal functioning of hemoglobin, a red blood cell protein that binds iron and is responsible for transporting oxygen to organs and tissues. High levels of porphyrins lead to serious health problems.

What organs affect porphyria? The disease primarily harms the nervous system and skin. Many internal organs also suffer from pathology, and the symptoms vary considerably depending on the severity of the disease, the type of porphyria and the individual characteristics of the organism. As a rule, the disease is transmitted through inheritance — an abnormal gene is transferred from one or both parents to a child. In rare cases, however, a disturbance may develop due to the detrimental effects of environmental factors.

porphyria disease

Depending on the nature of porphyria, treatment is prescribed based on the specifics of the symptoms. Although the pathology remains practically incurable, some qualitative changes in the usual way of life can facilitate the course of the disease.


The so-called "vampire disease" - porphyria - is either acute and predominantly affecting the nervous system, or the skin. Some types of pathology combine the signs of both types. Russian medicine also distinguishes erythropoietic porphyrias associated with impaired functioning of the bone marrow. The diseases of each of these types are manifested by different symptoms.

Signs of acute porphyria

Acute porphyria develops rapidly and can be life threatening. As a rule, the disorder is observed in women of childbearing age and is very rarely diagnosed before puberty or after menopause. Clinical manifestations can last both 1 week and 2. "Vampire disease" (porphyria) in this case has the form of an attack and gradually disappears.

Possible symptoms of the disorder include the following symptoms:

  • severe abdominal pain;
  • visually noticeable bloating;
  • pain in the chest, back, or legs;
  • constipation or diarrhea;
  • vomiting;
  • insomnia;
  • cardiopalmus;
  • increased blood pressure;
  • anxiety or anxiety;
  • convulsions;
  • changes in the mental state (stupefaction, hallucinations, disorientation in time and space, paranoia);
  • labored breathing;
  • muscle pain, tingling sensation, numbness, weakness, or paralysis;
  • urine red or brown.

Skin porphyria

The symptomatology of this type of pathology is the most well known - many believe that only in this way does porphyria manifest: “vampires” - patients have an increased sensitivity to sunlight and are unable to go outside on a fine day, as their skin instantly becomes covered with a rash. In ancient times, patients were considered the embodiment of "evil spirits" - ghouls - and used all sorts of methods to "purify" their souls, up to and including cruel torture and public punishment. Today this ailment is quite rare, but nonetheless it is necessary to have information about it. Attacks often last several days, but do not affect the nervous system.Sometimes the first signs of pathology appear in childhood and even in infancy.

porphyria disease photo

As a result of exposure to sunlight on the skin of patients with a diagnosis of "porphyria", symptoms occur immediately and include the following disorders:

  • burning pain caused by sunlight (in some cases also artificial) light;
  • sudden painful redness of the skin (erythema) or swelling;
  • blisters remaining on the skin for weeks;
  • itching;
  • thinning of the skin;
  • scars or discoloration of the skin due to the healing of blisters;
  • enhanced hair growth;
  • red or brown color of urine.


Most often it is the mutation of genes that leads to such a pathology as porphyria. The disease (photos of patients are presented in the review) is a violation of the structure of heme - a complex of porphyrin and iron. In rare cases, the disease leads to life in areas with poor ecology.

Heme is one of the main components of hemoglobin, the protein of the red blood cells, responsible for carrying oxygen from the lungs to all parts of the body. This substance, among other things, plays an important role in the breakdown of toxins and their removal from the body.Heme is synthesized mainly in the bone marrow and liver through the production of porphyrin and its connection with iron.

porphyria symptoms

Eight different enzymes combine and alter the natural chemical "bricks" in such a way that porphyrin is obtained, which later (with the addition of iron) turns into heme. A deficiency of one of eight enzymes leads to an abnormal accumulation of porphyrin, and then to a pathology called "porphyria". The disease (photo can be seen above) is divided into types and varieties depending on the type of the missing enzyme.


Most forms of the disease are hereditary. You may suffer from porphyria if you inherit:

Even with the established fact of inheritance of genes with violations it is quite possible that you will not experience any signs and symptoms of the disease. Porphyria can occur latently, that is, have no symptoms. Most often, it is the latent form of the disease that is characteristic of carriers of pathological genes.

Risk factors

In addition to genetic factors, there are a number of circumstances contributing to the development of a disorder such as porphyria.The disease occurs with direct exposure to an irritant that triggers an increased production of heme. When there is an acute need for heme, the deficiency of a specific enzyme becomes obvious, and corresponding signs and symptoms appear.

intermittent porphyria

The following initiating factors are known:

  • taking certain medications (barbiturates, sulfanilamide antibiotics, less often - oral contraceptives or psychoactive substances);
  • exposure to chemicals;
  • strict diet or fasting;
  • smoking;
  • physical stress for the body (for example, infectious and other diseases);
  • abnormal liver function;
  • emotional stress;
  • drinking alcohol;
  • hormonal disorders of the menstrual cycle;
  • exposure to sunlight;
  • increased levels of iron in the body.


Whatever the cause of the porphyria, the symptoms should cause immediate medical attention, as there is a risk of complications. Among them:

  • Dehydration. Vomiting during an attack of acute porphyria can lead to dehydration, requiring intravenous fluids.
  • Labored breathing.Acute porphyria is a disease that often leads to muscle weakness and even paralysis, which in some cases cause breathing problems. If the patient does not seek medical care, he or she may face respiratory failure.
  • Reduced sodium in the blood. A condition called "hyponatremia" is diagnosed with disorders of the exchange of water and sodium in the body.
  • Increased blood pressure. The accumulation of porphyrin has the potential to cause damage to the kidneys and lead to hypertension - an increase in blood pressure.
  • Chronic renal failure. Increased porphyrin levels are also dangerous for the kidneys because they can gradually lose their ability to function normally.
  • Liver damage. Porphyria is a disease that can take different forms. In some cases, excess porphyrins accumulate in the liver, causing serious damage to its tissues. Patients with such complications often need a liver transplant.
  • Irreversible damage to the skin. When the skin heals after an attack of porphyria, it often becomes anomalous color and structure. Scars can remain for life.Sometimes hair starts to fall out due to skin problems.

porphyria vampires

Before visiting a doctor

Before consulting a specialist, make three lists - they will help you describe the situation to your doctor in more detail. List:

  • any symptoms you experience, including those that at first glance do not relate to signs of porphyria;
  • key personal data, including severe stress or significant life changes;
  • all medications, vitamins and dietary supplements that you take. In this list you should additionally indicate the dosage.

It is also advisable to make a list of questions that you plan to ask the doctor, so as not to forget about them directly for consultation and examination. When porphyria will not be superfluous to ask the following:

  • What can cause these symptoms?
  • Are there other possible causes of porphyria?
  • What will need to be tested? Is there a need for genetic screening?
  • How heavy can my condition be considered?
  • What is the best thing to do to ease it?
  • Are there alternatives to your proposed methods and drugs?
  • I suffer not only from this disease. What approach to choose to effectively treat both diseases?
  • Do I need to introduce any restrictions in nutrition?
  • What precautions should be observed when being outdoors?
  • Will I need to continue taking medication?
  • Do you have brochures or other printed material about porphyria? Perhaps you would recommend certain sites on the Internet?
  • Do my family members need to get tested?

Feel free to ask any other questions at the consultation - the more information you will own about your condition, the easier it will be to fight against the violation.

What to expect from a doctor

The specialist will most likely ask you a number of your own questions, for example:

  • When did you first begin to experience symptoms of the disease?
  • What is the frequency of these symptoms: do they appear only sometimes or are they constantly present?
  • How intense are the symptoms?
  • What do you think relieves these symptoms?
  • What do you think reinforces these symptoms?
  • Do any of your family have similar signs of illness?


If you find yourself having characteristic signs, this does not mean that your disease is porphyria. The symptoms of this pathology are similar to the manifestations of many other diseases. In addition, the complexity of diagnosis is also explained by the rarity of the disorder. To accurately determine the malaise and start treatment, it is necessary to conduct a series of laboratory tests. Analyzes will also help to identify a specific type of porphyria.

Doctors prescribe the following studies:

  • Analysis of urine. If you have acute intermittent porphyria, the results of the analysis will indicate elevated levels of two substances - porphobilinogen and delta aminolevulinic acid, as well as other porphyrins.
  • Blood test. If the disease primarily affects the skin, an increase in plasma plasma porphyrin levels will be reflected in the analysis.
  • Analysis of feces. Sometimes the results of urine tests are insufficiently informative, and only in the feces elevated levels of porphyrins are detected.

It may be necessary to pass other tests to determine the specific type of pathology. If the doctor suspects that "vampire disease" - porphyria (see photoin the article) is hereditary, he will prescribe a genetic examination.

Treatment of acute forms

porphyria treatment

Acute porphyria is treated by quickly eliminating symptoms and preventing complications. In severe cases, patients are placed in the hospital. The treatment is carried out by the following means and methods:

  • stopping the medication that caused the onset of symptoms;
  • taking medicines to relieve pain, relieve nausea and stop vomiting;
  • timely treatment of infections and other diseases that cause symptoms of porphyria;
  • intravenous sugar (glucose) to provide the body with carbohydrates;
  • intravenous fluids to prevent dehydration;
  • Hemin injection is a medication that is a form of heme and allows to limit the production of porphyrins.

Treatment of skin porphyria

Porphyria disease, whose symptoms depend on exposure to the body in direct sunlight, can be treated in the following ways:

  • Bloodletting (phlebotomy). Taking a certain amount of blood from a vein reduces the level of iron and, accordingly, the volume of porphyrins.It may be necessary to perform phlebotomy several times at equal intervals in order for the disease to go into remission.
  • Medicines Drugs used to treat malaria ("hydroxychloroquine" or "chloroquine") are able to absorb excess porphyrins and quickly remove them from the body. However, these medications are used only in cases where phlebotomy is not possible.
  • Beta-carotene. Long-term treatments include regular doses of beta-carotene prescribed by your doctor. This substance can increase the patient’s resistance to sunlight.
  • Elimination of the root cause. The doctor will recommend how to avoid risk factors - for example, excessive ultraviolet radiation or taking certain medications.
  • Vitamin D. It may be necessary to take special biologically active food additives to compensate for the deficiency of vitamin D, not received as a result of avoiding sunlight.

porphyria vampire disease


Is porphyria disease contagious? No, but if it manifests itself in the form of corresponding symptoms, it is almost impossible to cure, nor can it be prevented if the pathology is hereditary.Nevertheless, it is possible - and necessary - to take some measures in order to be less likely to suffer from the symptoms of the disease. Patients should follow medical recommendations:

  • Avoid taking medications that can cause attacks of acute porphyria;
  • ask your doctor for a list of safe and potentially dangerous drugs;
  • do not consume alcoholic beverages and narcotic substances;
  • avoid fasting, fasting and diets that require calorie restriction;
  • do not smoke;
  • minimize the effects of sunlight on the body: wear special outdoor clothing with UV protection and use a universal sunscreen with a high level of protection (SPF);
  • timely treat infectious and other diseases;
  • try to reduce emotional stress, learn to relax.

Since porphyria is most often inherited, it is possible that your close relatives should consider the need for genetic screening to determine the individual risk of developing pathology.

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