Transjugular Intrahepatic Portosystemic Shunt for Refractory Ascites in Gaucher Disease.
cirrhosis
decompensated liver disease
inherited metabolic disease
lysosomal storage diseases
rare disease
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Apr 2022
Apr 2022
Historique:
accepted:
06
04
2022
entrez:
10
5
2022
pubmed:
11
5
2022
medline:
11
5
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 35535294
doi: 10.7759/cureus.23941
pmc: PMC9079779
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e23941Informations de copyright
Copyright © 2022, Adhyaru et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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