Review article
Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma

https://doi.org/10.1016/j.ymgme.2021.06.009Get rights and content
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Abstract

Background: Gaucher disease (GD) is a rare lysosomal storage disorder classically subdivided into type 1 (non-neuronopathic) GD, and types 2 and 3 (neuronopathic) GD. It is typically characterized by clinical manifestations including anemia, thrombocytopenia, hepatosplenomegaly, bone lesions, and (in more severe forms) neurological impairment. However, less-commonly reported and often under-recognized manifestations exist, which potentially have a significant impact on patient outcomes. Greater efforts are needed to understand, recognize, and manage these manifestations.

Objectives: This review provides a synthesis of published information about three under-recognized GD manifestations (pulmonary involvement, lymphadenopathy, and Gaucheroma) and recommends diagnostic, management, and treatment strategies based on the available literature and author experience. The authors aim to raise awareness about these serious, progressive, and sometimes life-threatening conditions, which are often diagnosed late in life.

Conclusions: Little is known about the incidence, pathophysiology, prognostic factors, and optimal management of pulmonary involvement, lymphadenopathy, and Gaucheroma in patients with GD. Enzyme replacement therapy (ERT) has shown limited efficacy for the prevention and treatment of these manifestations. More research is needed to evaluate the potential effect of substrate reduction therapy (SRT) with glucosylceramide synthase (GCS) inhibitors, and to develop additional approaches to treat these GD manifestations. Improvements in data collection registries and international data-sharing are required to better understand the impact of these manifestations on GD patients, help develop effective management strategies, and, ultimately, improve patient outcomes.

Keywords

Gaucher disease
Pulmonary involvement
Pulmonary hypertension
Lymphadenopathy
Protein-losing enteropathy
Gaucheroma

Abbreviations

ACE I
angiotensin converting enzyme I
BBB
blood brain barrier
CNS
central nervous system
CT
computed tomography
DLCO
lung diffusing capacity for carbon monoxide
EOW
every other week
ERT
enzyme replacement therapy
ESC/ERS
European Society of Cardiology/European Respiratory Society
FVC
forced vital capacity
GD
Gaucher disease
GD1/2/3
Gaucher disease type 1/2/3
GlcCer
glucosylceramide, GL-1
GlcSph
glucosysphingosine, lyco-GL-1
HCC
hepatocellular carcinoma
HPS
hepatopulmonary syndrome
HRCT
high-resolution computed tomography
IU
International Unit
MRI
magnetic resonance imaging
PH
pulmonary hypertension
PLE
protein-losing enteropathy
SRT
substrate reduction therapy

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