Introducing
Steps towards a brighter future for patients with Gaucher disease
An interactive video experience
INTRODUCING
Comorbidities of Gaucher disease
Gaucher disease is a rare, inherited metabolic disorder and is classified as a type of lysosomal storage disease known as sphingolipidosis.
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
- Utz J, Whitley CB, van Giersbergen PL, et al. Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: the potential for drug-drug interactions. Mol Genet Metab 2016; 117: 172-178.
- Rosenbloom BE, Weinreb NJ, Zimran A, et al. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood 2005; 105: 4569-4572.
- de Fost M, Vom Dahl S, Weverling GJ, et al. Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol Dis 2006; 36: 53-58.
- Taddei TH, Kacena KA, Yang M, et al. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am J Hematol 2009; 84: 208-214.
- Arends M, van Dussen L, Biegstraaten M, et al. Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature. Br J Haematol 2013; 161: 832-842.
- Bultron G, Kacena K, Pearson D, et al. The risk of Parkinson's disease in type 1 Gaucher disease. J Inherit Metab Dis 2010; 33: 167-173.
- Packman W, Wilson Crosbie T, Riesner A, et al. Psychological complications of patients with Gaucher disease. J Inherit Metab Dis 2006; 29: 99-105.
- Tantawy AAG, Adly AAM, Salah El-Din NY, et al. Psychiatric manifestations in Egyptian Gaucher patients on enzyme replacement therapy. J Psychosom Res 2019; 122: 75-81.
- Kałużna M, Trzeciak I, Ziemnicka K, et al. Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review. Orphanet J Rare Dis 2019; 14: 275.
- Mehta A. Epidemiology and natural history of Gaucher's disease. Eur J Intern Med 2006; 17 Suppl: S2-S5.
- Kim YM, Shin DH, Park SB, et al. Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy. BMC Med Genet 2017; 18: 55.
Interactive case study
Getting the diagnosis right in children & adolescents
Interactive case study
Gaucher disease & multiple myeloma
Interactive case study
Gaucher disease & Parkinson's disease
Interactive case study
Getting the diagnosis right in adults
Events
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.
Brochure
Diagnosing Gaucher disease
Early diagnosis is essential in implementing the appropriate patient assessment and management plans as soon as possible.
Brochure
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.
Infographic
Gene therapy
New treatment modalities are currently being researched for Gaucher disease. The feasibility of gene therapy for Gaucher disease is currently under investigation.
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.
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.
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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