Porfyriny

Porfyriny, known in English as porphyrias, are a group of rare inherited or acquired metabolic disorders characterized by the abnormal production and accumulation of porphyrins or their precursors. Porphyrins are organic compounds essential for the synthesis of heme, a vital component of hemoglobin, myoglobin, and certain cytochromes.

The disorder results from deficiencies or malfunction of enzymes involved in the heme biosynthesis pathway. Depending on the specific enzyme affected, porphyrias are classified into hepatic or erythropoietic types. Symptoms vary widely but often include photosensitivity, skin blistering, abdominal pain, neurological disturbances, and urine discoloration.

Porphyrias are generally categorized into two main groups: acute (or neurovisceral) and cutaneous. Acute porphyrias, such as acute intermittent porphyria, primarily affect the nervous system and can cause severe abdominal pain, mental disturbance, and peripheral neuropathy. Cutaneous porphyrias, like variegate porphyria and porphyria cutanea tarda, predominantly cause skin symptoms, including blisters, hyperpigmentation, and scarring, especially after sun exposure.

Diagnosis involves measuring porphyrin levels in blood, urine, and stool, alongside genetic testing when appropriate. Management varies depending on the type but may include avoiding triggering factors (such as certain drugs or sun exposure), providing symptomatic treatment, and in some cases, administering heme therapy or others to suppress precursor buildup.

While porphyrias are rare, awareness and accurate diagnosis are essential to prevent complications and improve quality of life for affected individuals. Advances in genetics and biochemistry continue to improve understanding and management of these complex disorders.