Investigação diagnóstica da porfiria hepatoeritropoiética: revisão de literatura com relato de caso

Abstract

Objective: Illustrate the importance of semiology in diagnosing a rare disease. Method: This study consists of a case report and medical record analysis, conducted after obtaining approval from the Research Ethics Committee (CEP) of the Martagão Gesteira Institute of Puericulture and Pediatrics, Federal University of Rio de Janeiro (IPPMG). A subsequent literature review was performed using the PubMed platform. Results: Hepatoerythropoietic porphyria (HEP) is a rare condition characterized by cutaneous and hematological manifestations, with fewer than 100 cases described worldwide as of 2022. HEP is caused by a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD), which is involved in normal heme synthesis, leading to the accumulation of uroporphyrin and other porphyrin precursors. This enzymatic deficiency results in hepatic porphyrin overload and urinary excretion, contributing to the disease's characteristic cutaneous symptoms. Diagnosis requires measuring serum, urinary, and fecal porphyrins, as well as genetic analysis, which plays a crucial role in identifying pathogenic variants in the UROD gene. Clinically, the disease presents with intense photosensitivity, blister formation, hypertrichosis, scarring, and sometimes milia. In addition to skin symptoms, pink or reddish urine and hemolytic anemia may also be observed. Treatment for HEP is primarily symptomatic, emphasizing the prevention of cutaneous complications through measures such as sun protection and management of hematological manifestations. Conclusion: In each type of porphyria, cutaneous symptoms are associated with different enzymatic deficiencies, guiding diagnostic investigation. Genetic counseling is essential to inform family members about the risk of transmission and implement appropriate prevention strategies. The disease's peculiar clinical presentation and low prevalence justify the need for an interdisciplinary approach to its management.