A Rare Cause of Splenomegaly: Acid Sphingomyelinase Deficiency Type B

Authors : Havva Demircioğlu, Sinan Demircioğlu

Pages : 295-300

Doi:10.52827/hititmedj.1624724

View : 39 | Download : 43

Publication Date : 2025-06-23

Article Type : Other Papers

Abstract :Acid Sphingomyelinase Deficiency is a rare, autosomal recessive inherited metabolic disorder caused by mutations in the SMPD1 gene. It is a pan-ethnic, multisystemic, often progressive, and potentially life-limiting condition, with an age of onset ranging from the first days of life to adulthood. Acid Sphingomyelinase Deficiency results from a deficiency of the enzyme acid sphingomyelinase. In Acid Sphingomyelinase Deficiency type B patients, hepatosplenomegaly and pulmonary pathological changes are frequently observed; however, central nervous system involvement is usually absent. The rarity of the disease and the lack of expertise often lead to misdiagnosis, delayed diagnosis, and limited access to adequate care. In recent years, enzyme replacement therapy with olipudase alfa, which provides an exogenous source of acid sphingomyelinase, has been introduced for children and adults diagnosed with Acid Sphingomyelinase Deficiency without central nervous system involvement, altering the course of the disease. In this case presentation, we aimed to emphasize the consideration of Acid Sphingomyelinase Deficiency in the etiology of splenomegaly.
Keywords : Asit Sfingomiyelinaz Eksikliği, interstisyel akciğer hastalığı, Niemann-Pick hastalığı, splenomegali, trombositopeni

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