Issue 4/2024
Topalova-Dimitrova1,3, A., Ivanova2,3, A.
1 Gastroenterology Clinic, UMBAL „St. Ivan Rilski“ – Sofia
2 Laboratory of porphyrias and molecular diagnostics of liver diseases,
UMBAL „St. Ivan Rilski” – Sofia
3 Medical University – Sofia
Porphyrias are metabolic, rare diseases resulting from a disturbance in the biosynthetic pathway of the heme pigment. A large number of inactive precursors, called porphyrins, are formed, which accumulate in the nervous system and skin. They lead to the development of neurovisceral, neuropsychiatric and dermatological syndrome. Porphyrias are classified in two types, depending on the clinical symptoms – acute hepatic porphyrias and cutaneous. These diseases can be inherited autosomal-dominant way like all acute hepatic ones or autosomal recessive -like the congenital erythropoietic porphyria (CEP). Acute forms of porphyria can be presented with sudden acute attack of porphyria, which is induced by certain triggering factors.
These risk factors can be porphyrinogenic medication, which induces the production of porphyrins, infection, hormones, alcohol, starvation, stress (emotional and physical). A very typical sign for the acute attack of porphyria is the color of the urine, which is red or dark red. The complex of symptoms is diverse and includes abdominal pain, nausea, vomiting, diarrhea, or constipation; motor neuropathy like muscle weakness and paresis; psychosis, depression; skin rashes like vesicles, bulla, hypo- or hyperpigmentations, cicatrices. The Erythropoietic protoporphyria (EPP) is erythematous and edematous photodermatosis. The CEP is bullous and ulcerous photodermatosis alongside hemolytic syndrome. The diagnostic process includes determination of porphyrins in urine, feces, and their fluorescence examination. A quick qualitative method of an acute porphyria attack is the Hoesch test. The treatment of the disease is aimed at reducing the production of porphyrins in the blood. Glucose, human hemin, high calorie diet are used. Givosiran is a medicine, which is used to reduce the risk of acute attacks in acute hepatic porphyrias. Afamelanotide improves the dermatological syndrome of EPP. It is necessary to detect the disease in time and the triggering factors. The assessment of the type of porphyria in Bulgaria is carried out at the expert center „The Laboratory of Porphyrias and Molecular Diagnostics of Liver Diseases“ at the UMBAL „St. Ivan Rilski“ – Sofia, which is an associate member of Ipnet, headed by Dr. Aneta Ivanova. It also provides follow-up and treatment together with the hospital‘s gastroenterology clinic.
Address for correspondence:
Topalova-Dimitrova, A.
Gastroenterology Clinic, UMBAL „St. Ivan Rilski“ – Sofia
15, „Акаd. Ivan. Geshov“ , Blvd.
1000, Sofia