Adhyaru Kunal, Menezes Sherna, Mistry Pramod K, Nagral Aabha
Department of Gastroenterology and Hepatology, Jaslok Hospital and Research Centre, Mumbai, IND.
Department of Internal Medicine, Yale University, New Haven, USA.
Cureus. 2022 Apr 8;14(4):e23941. doi: 10.7759/cureus.23941. eCollection 2022 Apr.
Gaucher disease is rare, inherited lysosomal storage disorder that leads to the excessive accumulation of certain lipids, especially within the bone marrow, liver, and spleen. We present a case of a 30-year-old man with Gaucher disease who underwent a splenectomy at the age of eight for severe cytopenia. His subsequent history was notable for recurrent avascular osteonecrosis and his liver disease progressed to portal hypertension, variceal bleeding, and refractory ascites. Upon evaluation of his candidacy for liver transplantation, he was sarcopenic, with tense, high serum-ascites albumin gradient (SAAG) ascites and florid venous collaterals on his anterior abdominal wall. His hepatic venous pressure gradient (HVPG) was 22 mmHg. He underwent a transjugular intrahepatic portosystemic shunt (TIPS) procedure, following which his HVPG was reduced to 2 mmHg and striking reversal of ascites as well as improvement of his nutritional state. TIPS was not complicated by hepatic encephalopathy. The successful outcome of TIPS in Gaucher disease with advanced hepatic disease underscores its utility as a bridge to liver transplantation with continuing enzyme replacement therapy.
戈谢病是一种罕见的遗传性溶酶体贮积症，会导致某些脂质过度蓄积，尤其是在骨髓、肝脏和脾脏中。我们报告一例30岁戈谢病男性患者，其8岁时因严重血细胞减少接受了脾切除术。他随后的病史以复发性无菌性骨坏死为显著特征，其肝脏疾病进展为门静脉高压、静脉曲张出血和难治性腹水。在评估其肝移植候选资格时，他存在肌肉减少症，有张力性、高血清腹水白蛋白梯度（SAAG）腹水，且前腹壁有明显的静脉侧支循环。他的肝静脉压力梯度（HVPG）为22 mmHg。他接受了经颈静脉肝内门体分流术（TIPS），术后其HVPG降至2 mmHg，腹水显著消退，营养状况改善。TIPS未并发肝性脑病。TIPS在晚期肝病戈谢病患者中取得成功，凸显了其作为继续酶替代治疗的肝移植桥梁的作用。
