What comorbidities are associated with Gaucher disease?

Clinical care of patients with rare diseases may be further complicated by comorbidities. One study reviewed the literature to elucidate the comorbid conditions and pharmacotherapies used in patients with Gaucher disease Type 1. Two national databases reporting real-world data of pharmacotherapies prescribed to patients with Gaucher disease Type 1 in Germany (n=87 patients) and the US (n=374 patients) were also used in this study.1

The symptomatology of Gaucher disease Type 1 was characterised by visceral and haematological manifestations (hepatomegaly, splenomegaly, thrombocytopaenia, anaemia, pancytopaenia, neutropaenia, blood-clotting disorders and leukopaenia), bone manifestations (bone or joint pain, skeletal malformations, osteopaenia and osteoporosis) and pulmonary disorders.1

A range of comorbidities associated with Gaucher disease Type 1 were also reported, and these included1:

These data suggest that patients with Gaucher disease may experience a wide range of comorbidities, which may make clinical decision-making more challenging.1

C-ANPROM/INT//7566; Date of preparation: September 2020

 
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Gaucher disease & multiple myeloma
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Gaucher disease & Parkinson's disease
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Getting the diagnosis right in adults
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WORLDSymposiumTM 2022 congress reports

 

The WORLDSymposium™ was held as a hybrid meeting this year (7–11 February 2022) and brought together key opinion leaders from the field of lysosomal disorders and rare diseases.

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Diagnosing Gaucher disease


Early diagnosis is essential in implementing the appropriate patient assessment and management plans as soon as possible.

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Diagnosing Gaucher disease in siblings


Early diagnosis can reduce the likelihood of irreversible organ damage and serious complications, as well as chronic pain and disabling symptoms. Genetic counselling and carrier testing can help to achieve this.

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Gene therapy


New treatment modalities are currently being researched for Gaucher disease. The feasibility of gene therapy for Gaucher disease is currently under investigation.

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BURDEN OF DISEASE

Haematological malignancies

Are haematological malignancies associated with Gaucher disease?

Patients with Gaucher disease may have an increased risk of developing certain types of cancer, particularly multiple myeloma and haematological malignancies.

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BURDEN OF DISEASE

Neurological disorders

What neurological disorders have been linked to Gaucher disease?

The risk of developing Parkinson’s disease is increased in patients with Gaucher disease, compared with the general population.

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BURDEN OF DISEASE

Metabolic disorders

Have metabolic disorders been linked to Gaucher disease?

Gaucher disease is recognised as a multisystemic chronic disease where clinical symptoms can be accompanied by metabolic and hormonal disturbances.

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