The red color of blood, as well as its ability to transport oxygen, are due to the presence of heme. In turn, this biochemical compound is formed due to enzymes, the production of which requires porphyrin. When these substances are deficient, porphyria develops, as a rule, heredity becomes the cause.
Genetics and porphyria
The main factor predisposing to the progression of the disease is the presence of antigen carriers HLA B7 and HLA A3 in the blood. They provoke an inadequate production of enzymes that form heme, as well as a violation of the oxidation of lipid compounds.
In addition to genetics, irreversible hepatitis B, C and A (in severe form) with degradation of the liver parenchyma, bone marrow damage are important.
Symptoms of porphyria
The necessary enzyme compounds are formed in the liver and bone marrow. Accordingly, signs of porphyria vary depending on the affected organ, as well as a variety of pathology.
The hepatic type has the following subgroups and characteristic clinical manifestations:
- Hereditary. The most pronounced symptom is intense pain in the epigastric region. In addition, there are tachycardia, mild mental disorders, hypertension .
- Acute intermittent. The course is slightly similar to the hereditary form, but it affects the central and peripheral nervous system. This is accompanied by hallucinations, epileptic seizures, delirium and paralysis of the smooth muscles of the bronchi, lungs.
- Chester. Got its name due to geographical location (mostly sick people of the city of Chester in England) and genealogical relationship. Similar to the previous form of porphyria, but it has more severe symptoms, sometimes it is fraught with kidney failure.
- Coproprotoporphyria. It combines the clinical manifestations of the three abovementioned species of the disease, characteristic of the inhabitants of South Africa. The disease is accompanied by eruptions on the surface of the epidermis.
- Urokopproporfiriya. It is often diagnosed as skin porphyria - the symptoms are expressed as a violation of pigmentation and the formation of small bubbles in the area of hands and face. It often affects residents of Russia and the countries of the former CIS.
If the synthesis of porphyrins is disturbed in the bone marrow, these kinds of ailment develop:
- Erythropoietic uroporphyria. The most dangerous type of illness, since it rarely allows you to live to adulthood. It is characterized by damage to the skin (with non-healing ulcerous erosions), teeth, sensitivity to solar radiation, and progression - by infection of blood.
- Erythropoietic coproporphyria. The main symptom is a strong sensitivity to ultraviolet, which causes swelling, itching and hyperemia of the epidermis. After prolonged sun exposure, there is also the occurrence of vesicles, hemorrhagic rash, ulcers on the skin and scars.
- Erythropoietic protoporphyria. Characterized exactly by the same clinic as the previous type of pathology, it is diagnosed by means of a blood test (the concentration of protoporphin increases in erythrocytes).
Treatment of porphyria disease
To date, there are no effective methods of treating the disease. Symptomatic treatment involves the use of
- lowering blood pressure;
- splenectomy;
- plasmapheresis ;
- taking anti-inflammatory and analgesic medicines;
- permanent protection against ultraviolet radiation;
- periodic installation of droppers with glucose solution, the introduction of riboxin, adenosine monophosphate, delagila.