Splenic Artery Aneurysm in Gaucher Disease: A Hybrid Study Combining Case Report, Scoping Review, and Clinical Survey

Abstract

Gaucher disease (GD) is a rare lysosomal storage disorder caused by pathogenic variants in the GBA gene. Splenic artery aneurysm (SAA) is an uncommon and underrecognized complication of GD, particularly in the absence of traditional risk factors. SAA carries a high risk of rupture and significant mortality. This hybrid study investigates the clinical features and impact of SAA in GD through a three-part approach: a case report, a scoping review with individual patient data (IPD) analysis, and a clinical survey conducted across two GD centers in Naples, Italy. We report the case of a 46-year-old woman with GD type 1, in whom a 37 × 32 mm calcified SAA was incidentally found. Despite the high risk of rupture, the patient opted for regular radiological monitoring. Over a 16-year follow-up period, the aneurysm remained stable. In the literature, we identified 11 GD subjects (four [36.4%] males and seven [63.6%] females) with SAA, including our case report. Most had not received enzyme replacement therapy (ERT) or were non-compliant before the SAA diagnosis. Only two patients reported abdominal pain, and one died due to intraoperative hemorrhage. In our clinical survey, the prevalence of SAA in GD patients was 2.1%, twice that reported in individuals without GD. Although SAA is a rare and often underdiagnosed complication in GD, its potential lethality warrants heightened clinical awareness. We recommend incorporating magnetic resonance imaging for routine evaluation of the spleen and splenic artery in GD patients. This strategy, in conjunction with timely ERT, may be life-saving.