Doença de Niemann Pick tipo B: relato de caso

Abstract

Introduction: Niemann-Pick Disease (NPD) is a rare genetic condition, an autosomal recessive disorder, that can be identified by the acid sphingomyelinase deficiency, which leads to the buildup of sphingomyelin on lysosomes. The NPD is categorized into three main subclassifications: A, B, and C, each one with different clinical manifestations and phenotype variabilities. Case report: A 42-years-old male patient diagnosed in childhood with NPD-B under conditions of increased abdominal volume, medical follow-up was interrupted during pre-adolescence. In adulthood, the patient was referred to hepatology outpatient after gingivorrhagia, and epistaxis, it has been detected hepatosplenomegaly, portal hypertension, anemia, and thrombocytopenia. The medical records reviews showed a hepatic biopsy within anatomopathological results suggesting deposit disease and a myelogram within indication of foam cells, both examinations were performed during childhood. A chest tomography was performed, leading to the diagnosis of interstitial lung disease, although asymptomatic. The echocardiogram revealed a moderate to severe aortic stenosis, without clinical repercussions. On further investigation, it was detected sphingomyelinase deficiency (SMPD1), compatible with diagnoses of NPD type B. Discussion: NPD-B presents with significant phenotypic heterogeneity, which may include hepatosplenomegaly, portal hypertension, and hematologic involvement, leading to complications such as anemia and thrombocytopenia. Pulmonary involvement is common and manifests as interstitial lung disease. Primary cardiac involvement is not typical, but secondary complications may occasionally lead to cardiac manifestations. Conclusion: Early diagnosis and continuous follow-up are crucial for the proper management of Niemann-Pick Disease type B. The introduction of modified therapies, such as Olipudase alfa, brings significant hope for treatment. The reported experience highlights the need to increase awareness about the disease, improve early detection strategies, and ensure continuous monitoring