Karishma
Budd-chiari syndrome in gaucher disease type iii in an adult libyan male: letter to the editor
Journal title : Yemen Journal of Medicine
Publisher : Mansa STM Publishers
Online ISSN : 2583-4614
Page Number : 189-190
Journal volume : 04
Journal issue : 01
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Gaucher Disease (GD) is the most common lysosomal storage disorder. The prevalence of GD is approximately 1/100,000, and type III GD accounts for 5% of cases. [1] It is an autosomal recessive disease due to a GBA gene mutation, leading to glucocerebrosidase enzyme deficiency. [1,2] Gaucher disease (GD) is categorized into three types according to clinical presentation: [3] Type I, which is non-neuronopathic and most common, particularly among Ashkenazi Jews; Type II, which is acute neuronopathic and marked by significant neurological involvement and high mortality rates; and Type III, which is subacute neuronopathic, exhibiting both systemic and neurological symptoms. In this report, we discuss a 24-year-old man from Libya diagnosed with GD type III. His diagnosis was established at the age of one due to symptoms including pallor, poor appetite, and hepatosplenomegaly. Laboratory tests indicated a hemoglobin level of 5.6 g/dL, chitotriosidase activity of 18,742 μmol/L, and an angiotensin-converting enzyme level of 251 UI/L. Genetic analysis confirmed a homozygous L444P mutation. He underwent splenectomy at the age of three, and enzyme replacement therapy (ERT) was administered intermittently with regular follow-ups until 2011. In December 2023, the patient experienced two weeks of abdominal pain, distension, and fatigue. A physical examination revealed ascites, dilated abdominal veins, and an enlarged liver and spleen.
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DOI : https://doi.org/10.63475/yjm.v4i1.0040
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