Type 1 Gaucher disease is a rare genetic lysosomal disorder due to acid betaglucosidase deficiency. The main features are thrombocytopenia, anemia, hepatosplenomegaly and complex skeletal disease. Complications include pulmonary hypertension, cirrhosis and splenic infarction; comorbidities, such as autoimmune phenomena, B-cell malignancies and Parkinson disease also occur. Visceral aneurysms have been only rarely noted in Gaucher disease. We report the retrospective data from patients with Gaucher disease type 1 and splenic arterial aneurysm We describe the different outcomes of a giant splenic arterial aneurysm in five patients with type 1 Gaucher disease and discuss the main possible pathophysiological explanations. Aneurysms of the splenic artery are rare in Gaucher disease but are probably greatly under-reported.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6406779PMC
http://dx.doi.org/10.3390/jcm8020219DOI Listing

Publication Analysis

Top Keywords

gaucher disease
24
type gaucher
12
splenic artery
8
disease
8
disease report
8
splenic arterial
8
arterial aneurysm
8
gaucher
6
splenic
5
artery aneurysms
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!