Porphyria - Causes and Signs of Porphyria
There are several types of porphyria:
- erythropoietic porphyria;
- hepatic porphyria.
Subtypes of hepatic porphyria:
- porphyria caused by deficiency of δ-aminolevulinic acid dehydratase;
- acute, intermittent porphyria;
- hereditary coproporphyria;
There are several types of porphyria:
- erythropoietic porphyria;
- hepatic porphyria.
Subtypes of hepatic porphyria:
- porphyria caused by deficiency of δ-aminolevulinic acid dehydratase;
- acute, intermittent porphyria;
- hereditary coproporphyria;
- variegate porphyria;
- late cutaneous porphyria.
Subtypes of erythropoietic porphyria:
- congenital erythropoietic porphyria (disease Gunther);
- erythropoietic protoporphyria.
Porphyrias are also divided according to their clinical course. Experts distinguish:
- Acute forms of porphyria are severe neurological pathologies that affect all parts of the central nervous system;
- Forms of porphyria that occur with the clinical picture of predominant damage to the skin.
In turn, acute porphyrias are divided into:
- Porphyria caused by deficiency of δ-aminolevulinic acid dehydratase;
- Acute intermittent porphyria;
- Hereditary coproporphyria;
- Variegated porphyria.
Porphyrias that occur with skin lesions are:
- Congenital erythropoietic porphyria;
- erythropoietic protoporphyria;
- late cutaneous porphyria.
Causes
The following can lead to the development of porphyria:
- poisoning with heavy metal salts;
- alcoholism;
- long-term use of estrogen, barbiturate, griseofulvin;
- severe forms of hepatitis;
- excessive iron content in the blood serum and liver parenchyma;
- Kupffer cell siderosis;
- liver pathologies of varying degrees;
- progress of lipid peroxidation;
- heredity (in representatives-carriers of the HLA antigen A3 and HLA B7).
Factors that increase the risk of porphyria:
- diet;
- stress;
- taking medications;
- contact with pesticides;
- changes in the hormonal profile in women caused by the onset of menstruation or pregnancy;
- infectious diseases (eg, viral hepatitis C);
- abuse of alcoholic beverages.
Symptoms
The main symptoms of porphyria are as follows:
- the appearance of pigmentation, blisters, hypertrichosis on exposed areas of the body;
- deformation and destruction nails;
- increased blood pressure;
- anemia;
- abdominal pain;
- polyneuritis;
- paresthesia;
- psychosis;
- comatose states;
- functional and organic changes in the liver;
- microcysts;
- swelling of the skin;
- redness of the skin;
- rash;
- polyneuritis;
- paresthesia.
Diagnostics
A patient with porphyria has pathological laboratory data research. To diagnose acute porphyria, the patient is sent to measure the amount of delta-aminolevulinic acid and porphobilinogens in the urine. In order to diagnose cutaneous porphyria in a patient, a person is sent to measure the amount of porphyrin in the blood plasma. Other tests may also be prescribed, such as measuring the amount of enzymes in red blood cells.
Additional tests are prescribed only if the data from one of the above tests are pathological.
Treatment
An endocrinologist and a hematologist treat porphyria.
Therapeutic methods for treating porphyria include:
- protection from sun exposure;
- splenectomy;
- prescribing painkillers;
- prescribing drugs that lower blood pressure;
- infusion of glucose solution;
- therapy adenosine monophosphate, riboxin;
- appointment of delagil, which forms a complex with skin porphyrins and removes them with urine;
- plasmapheresis.
Prevention
Unfortunately, a preventive complex for preventing the development of porphyria has not yet been developed. It is recommended to quit smoking and drinking alcoholic beverages. Use protective equipment from insolation (closed clothing, sunscreen ointments). Eat food rich in vitamins (especially group B), micro- and macroelements.
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