Genetic and clinical approach in acute intermittent porphyria and porphyria cutanea tarda.

This article examines the genetic and clinical features of two main types of porphyrias: acute intermittent porphyria (AIP) and porphyria cutanea tarda (PCT). AIP, a common hereditary disorder in young women, is characterized by severe neurovisceral crises, with abdominal pain, neuromuscular dysfunction and psychiatric disturbances, which are caused by mutations in the HMBS gene, affecting heme synthesis, causing intense symptoms in the nervous and gastrointestinal systems. PCT manifests mainly in adults, associated with photosensitivity, skin lesions and risk of hepatocellular carcinoma, resulting from deficiency of the enzyme uroporphyrinogen decarboxylase (UROD), which causes an accumulation of photosensitive compounds in the skin and liver.

The importance of genetic sequencing tests to identify possible alterations in the specific HMBS and UROD genes, essential to confirm the diagnosis and facilitate appropriate treatment, is emphasized. The need for early diagnosis and management of triggering factors to reduce morbidity and improve patients' quality of life is highlighted. The findings emphasize the importance of increasing the investigation of these pathologies, given that the initial symptoms may confuse the diagnosis, delaying detection and increasing the risk of complications.