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

Christine Serratrice,Wassim Allaham,Elizabeth Morris,Vanessa Leguy-Seguin,Timothy M Cox,Karima Yousfi,Nadia Belmatoug,Annie Sibert,Olivier Monnet

doi:10.3390/jcm8020219

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.

Highlights

Gaucher disease (GD) is a rare inborn error of lysosomal metabolism characterized by lysosomal storage of the sphingolipid, β-glucosylceramide
The prevalence of Splenic artery aneurysms (SAAs) associated with GD in this study is 2% (5 patients out of 252 GD1 patients followed in these 4 centers) whereas the prevalence in the general population is extremely variable between 1% [12] to 10.4% in necropsy series [13]
This prevalence must be considered with cautiousness as in GD1, such an aneurysm can be underdiagnosed with abdominal ultrasonography

Summary

Introduction

Gaucher disease (GD) is a rare inborn error of lysosomal metabolism characterized by lysosomal storage of the sphingolipid, β-glucosylceramide. Type 3, or chronic neuronopathic GD, is a “catch all” encompassing patients who survive infancy but have highly variable but progressive neurological involvement. In reality these phenotypes overlap, and GD is viewed as a disease continuum [9]. F, female; M, male; eow: every other week, ERT: enzyme replacement therapy, SAA: splenic artery aneurysm. One patient (Patient 1) was treated between 1993 and 1999 but for personal reasons stopped the therapy; in this patient SAA was identified post mortem after an acute and catastrophic intraabdominal hemorrhage. Three patients had received enzyme replacement therapy (ERT) before the diagnosis of SAA. Tsphleenspiclebeendi.tTsehlef wspalseefinrmitsaenlfdwianstaficrt:mthaenodnilnytaacbtn: othrme oanlilty awbansoarmdaillaityed thwina-swaadllieladteadrttehrinal-wanaelluerdyasmrtearitatlhaenheiulurymsmofatthtehsephleileunminodfitchaetisnpgleaetnruinedSiAcaAti.nPgaatiternute2SpArAes.ePnatteidenat s2et opf rfeosuerntSeAdAa asnetdohf afsoubreeSnAAsplaenndechtoams bizeeedn. sPpalteinenect t4omwiazseds.ucPcaetsisefnutll4y wemasbsouliczceeds.sfPualtliyenetm3borelifzuesde.d emPabtoielnizta3tiroenfuosredpaermtiabloslipzlaetnioenctormpyarbtuiatlispnleonwecctaormefyulbluytainsdnorewgucalarerlfyulmlyoannidtoregdu, laasrlpyamtieonntit5o.red, as patient 5

Findings

Discussion

Conclusions