Porfirias y su impacto en la calidad de vida del paciente

Porphyrias are inherited diseases caused by mutations in the genes encoding the enzymes responsible for synthesizing the heme group. These genetic alterations cause metabolic disorders that manifest with neurovisceral symptoms and skin lesions. Patients with porphyria may experience intermittent episodes of severe pain, gastrointestinal, psychiatric and neurological symptoms. In cases of cutaneous porphyrias, skin lesions occur that prevent exposure to sunlight. These complications can significantly affect the quality of life of patients, as many of them are forced to avoid sunlight and, in some cases, to stay in hospitals.