Gaucher disease and pulmonary hypertension in adult libyan female: A case-based literature review

Nadya Omran¹, Amnna Rayani ², Elmukhtar Habas ²

Author Affiliation

1 Tripoli University Hospital, Tripoli, Libya
2 Hamad General Medicine Hamad Medical City, Doha, Qatar

Abstract

Gaucher disease (GD) is a rare autosomal recessive disorder that results from a deficiency in β-glucosidase (GBA) activity due to a GBA gene mutation. GBA hydrolyzes glucocerebrosides into glucose. Deficiency of this enzyme causes accumulation of glucocerebrosides in cells and tissues. Gaucher cell infiltration into the interstitial tissue can be asymptomatic or can cause mild signs and symptoms, such as wheezing and cough. Progressive disease involves Gaucher cells filling the alveolar spaces, causing dyspnea, frequent infections, pneumonia, and exercise intolerance. We report severe pulmonary hypertension in a 41-year Libyan female patient with type 1 GD who was diagnosed at 17 years of age, responding to enzyme replacement therapy.

DOI: 10.18231/j.yjom.2024.025

Keywords: Gaucher disease, Pulmonary HTN, Immunoglobulin deficiency

Pages: 242-246

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DOI URL: http://doi.org/10.18231/j.yjom.2024.025

Publish Date: 15-12-2024

Full Text

Gaucher disease (GD) is a rare disease; however, it is the most common lysosomal storage disease, resulting from deficient -glucocerebrosidase (GBA) activity, inherited in an autosomal-recessive manner. Over 300 mutations have been identified in the -glucocerebrosidase gene located on chromosome 1q21.1

Gaucher’s disease (GD) is a rare hereditary disorder caused by mutations in the GBA1 gene, leading to a deficiency in glucocerebrosidase (GBA; E. C3.2.1.45). This autosomal recessive lysosomal storage disease affects approximately 1 in 50,000 to 1 in 100,000 individuals in the general population. It has a wide range of severities. Historically, GD has been classified based on the degree and type of neurological involvement. Type 1 GD (GD1) is non-neuronopathic, occurring at any age, with Ashkenazi Jewish individuals having a high carrier frequency of 1 in 16.2 In contrast, acute neuronopathic GD (GD2) typically presents within the first year of life and is characterized by a rapid neurological decline. Chronic neuronopathic GD (GD3) often begins in early childhood and has a wide range of neurological and non-neurological symptoms, with slow horizontal saccadic eye movements being the most common.3

Although the condition known as GD has been identified for nearly 140 years, significant progress has been made in understanding its phenotypic range and capacity to treat patients. This new knowledge has impacted the diagnosis and treatment of GD-induced pulmonary hypertension (PHTN), regardless of age. This case report and literature review aimed to provide a comprehensive overview of pulmonary HTN in GD type I with diverse clinical presentations and evolving diagnostic and therapeutic options in the presented case context.

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