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Open AccessCase Report
J. Clin. Med. 2019, 8(2), 219; https://doi.org/10.3390/jcm8020219

Splenic Artery Aneurysms, a Rare Complication of Type 1 Gaucher Disease: Report of Five Cases

1
Department of Internal Medicine and Rehabilitation, University Hospital of Geneva, Hôpital des Trois Chêne, 1226 Thonex, Switzerland
2
Division of Internal Medicine of the Aged, University Hospital of Geneva, 1205 Geneva, Switzerland
3
Department of Internal Medicine, Saint Joseph Hospital, 13008 Marseille, France
4
Department of Medicine, University of Cambridge, Cambridge CB2 0QQ, UK
5
Lysosomal Disorders Unit, Addenbrooke’s Hospital, Cambridge CB2 0QQ, UK
6
Department of Internal Medicine and Clinical Immunology, University Hospital of Dijon, 21000 Dijon, France
7
Reference Centre of Lysosomal Diseases, University Hospital Beaujon, 92110 Clichy, France
8
Department of Radiology, Saint Joseph Hospital, 13008 Marseille, France
9
Department of Radiology, University Hospital Beaujon, 92110 Clichy, France
*
Author to whom correspondence should be addressed.
Received: 21 January 2019 / Revised: 4 February 2019 / Accepted: 5 February 2019 / Published: 8 February 2019
(This article belongs to the Section Hematology)
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Abstract

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. View Full-Text
Keywords: Gaucher disease; lysosomal storage disorder; splenic arterial aneuryms; enzyme replacement therapy Gaucher disease; lysosomal storage disorder; splenic arterial aneuryms; enzyme replacement therapy
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MDPI and ACS Style

Serratrice, C.; Cox, T.M.; Leguy-Seguin, V.; Morris, E.; Yousfi, K.; Monnet, O.; Sibert, A.; Allaham, W.; Belmatoug, N. Splenic Artery Aneurysms, a Rare Complication of Type 1 Gaucher Disease: Report of Five Cases. J. Clin. Med. 2019, 8, 219.

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