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Journals / Hitit Medical Journal / 2026 / Cilt: 7 Sayı: 2

A Rare Cause of Splenomegaly: Acid Sphingomyelinase Deficiency Type B

Nadir Bir Splenomegali Nedeni: Asit sfingomiyelinaz eksikliği tip B

Havva Demircioğlu(Meram Family Health Center No. 25)0000-0002-3157-6956
Sinan Demircioğlu(Necmettin Erbakan University Faculty of Medicine, Department of Hematology)0000-0003-1277-5105
Pages
295–300
Publication Date
2025-06-23
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this case presentation, we aimed to emphasize the consideration of Acid Sphingomyelinase Deficiency in the etiology of splenomegaly.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Acid Sphingomyelinase Deficiency is a rare, autosomal recessive inherited metabolic disorder caused by mutations in the SMPD1 gene.
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Key Findings & Data: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.
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Conclusion & Impact:In this case presentation, we aimed to emphasize the consideration of Acid Sphingomyelinase Deficiency in the etiology of splenomegaly.
🔬Design:Olgu Sunumu
📍Scope:Comprehensive Sample
⚙️Variables:Asit Sfingomiyelinaz Eksikliği · interstisyel akciğer hastalığı · Niemann-Pick hastalığı

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.

Özet

Asit Sfingomiyelinaz Eksikliği, SMPD1 genindeki mutasyonlardan kaynaklanan nadir bir otozomal resesif geçiş gösteren, başlangıç yaşı yaşamın ilk günlerinden erişkinliğe kadar değişen, pan-etnik, çok nadir, multisistemik, çoğunlukla ilerleyici ve potansiyel olarak yaşamı sınırlayan bir metabolik hastalıktır. Asit Sfingomiyelinaz Eksikliği, asit sfingomiyelinaz enziminin yetersizliğinden kaynaklanır. Asit Sfingomiyelinaz Eksikliği tip-B hastalarda sıklıkla hepatosplenomegali ve akciğerlerde patolojik değişiklikler vardır, ancak genellikle santral sinir sistemi tutulumu yoktur. Hastalığın nadir görülmesi ve uzmanlık eksikliği, yanlış tanıya, teşhisin gecikmesine ve yeterli bakıma erişimin engellenmesine neden olmaktadır. Son yıllarda merkezi sinir sistemi tutulumu olmayan Asit Sfingomiyelinaz Eksikliği tanılı çocuk ve yetişkinlerde, hastalığın seyrini değiştiren, asit sfingomiyelinazın ekzojen bir kaynağını sağlayan bir enzim replasman tedavisi olan olipudaz alfa kullanıma girmiştir. Bu vaka sunumunda splenomegali etyolojisinde Asit Sfingomiyelinaz Eksikliğinin de göz önünde bulundurulmasını vurgulamak istedik.

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Cite This Article

Demircioğlu, H., Demircioğlu, S. (2025). A Rare Cause of Splenomegaly: Acid Sphingomyelinase Deficiency Type B. Hitit Medical Journal, Cilt: 7 Sayı: 2, 295–300. https://doi.org/10.52827/hititmedj.1624724

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