Gaucher disease type 3c: New patients with unique presentations and review of the literature

Alina Kurolap, Mireia del Toro, Ronen Spiegel, Ariel Gutstein, Gideon Shafir, Ian J. Cohen, José A. Barrabés, Hagit Baris Feldman*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Gaucher disease (GD) is the most prevalent lysosomal disorder caused by GBA mutations and abnormal glucocerebrosidase function, leading to glucocerebrosideaccumulation mainly in the liver, spleen, bone marrow, lungs, and occasionally in the central nervous system. Gaucher disease type 3c (GD3c) is a rare subtype of the subacute/chronic neuronopathic GD3, caused by homozygosity for the GBA p.Asp448His (D409H) mutation. GD3c is characterized mainly by cardiovascular and neuro-ophthalmological findings. In this paper, we describe four new GD3c patients exhibiting rare cardiovascular, pulmonary and psychiatric findings, as well as atypical disease courses. Review of the GD3c-related literature revealed clinical descriptions of 36 patients, presenting predominantly with cardiovascular calcifications; 15%, including Patient 1b in this study, had non-calcified lesions - fibrosis and atherosclerosis. Only 7.5% of patients have been described without heart disease, including Patient 3; however, Patient 2 had a fulminant coronary disease. Neurological findings in GD3c consist mainly of oculomotor apraxia (80%), which is absent in Patient 3, while other neurological findings are common (65%) but diverse. Patient 1b developed a psychiatric behavioral disorder, which has not been previously described in GD3c. Patient 1b also had interstitial lung disease, which was only described in one GD3c patient as pulmonary fibrosis. In view of these unique features, we recommend a revised surveillance protocol; however, further studies are required to establish the management of these patients and the role of GBA in the described pathologies.

Original languageEnglish
Pages (from-to)138-146
Number of pages9
JournalMolecular Genetics and Metabolism
Issue number2
StatePublished - Jun 2019


  • Coronary artery stenosis
  • D409H
  • GD3c
  • Gaucher disease type 3c
  • Interstitial lung disease
  • p.Asp448His


Dive into the research topics of 'Gaucher disease type 3c: New patients with unique presentations and review of the literature'. Together they form a unique fingerprint.

Cite this