Sessão Clínica 05/05/2026 - Deficiência da Enzima Lipase Ácido Lisossomal (Lal-D) (?)

Clinical case discussion: a 69-year-old patient with hepatic steatosis and persistent dyslipidemia. Despite presenting a common metabolic profile, a family history of liver disease and lack of response to conventional treatments led to suspicion of a rare condition. The investigation progressed to a genetic study, which identified a mutation in the LIPA gene, suggesting a diagnosis of lysosomal acid lipase deficiency (LAL-D). The geneticist explains that, although only one heterozygous variant was found, the clinical phenotype and reduced enzyme levels justify more specific complementary tests. The discussion highlights the importance of differentiating common steatosis from inborn errors of metabolism to enable enzyme replacement therapies. Finally, the physicians emphasize that accurate diagnosis in adults requires a high index of clinical suspicion in the face of refractory cases.