Introducing
Steps towards a brighter future for patients with Gaucher disease
An interactive video experience
INTRODUCING
Lysosomal storage diseases
Gaucher disease is a rare, inherited metabolic disorder and is classified as a type of lysosomal storage disease known as sphingolipidosis.
What are lysosomal storage diseases?
Lysosomal storage diseases are inherited metabolic disorders caused by defects in the gene that encodes lysosomal enzymes, leading to enzyme deficiency.1 These enzymes break down and help to recycle macromolecules such as carbohydrates, lipids, nucleic acids and proteins, and are pivotal for cellular communication, response to infection and homeostasis.1,2 Lysosomal storage diseases affect the chemical composition of the lysosomal storage material and can be divided into three broad groups: sphingolipidoses, mucopolysaccharidoses and glycoproteinoses.3
Mutations in the genes that encode lysosomal proteins (e.g. lysosomal glycosidases, proteases, integral membrane proteins, transporters, and enzyme modifiers or activators) can affect the functionality of the encoded protein, leading to the gradual accumulation of substrates within lysosomes, which ultimately leads to cell dysfunction and cell death. Collectively, there are 70 monogenic disorders of lysosomal catabolism, the majority of which are inherited as autosomal recessive traits, with only three linked to the X chromosome.1Gaucher disease is one of the most prevalent lysosomal storage diseases,4-8 with the estimated worldwide prevalence ranging from 0.70 to 1.75 per 100,000 individuals, and a birth incidence ranging from 0.39 to 5.80 per 100,000 individuals.9 However, compared with the general population, the prevalence of Gaucher disease is higher in the Ashkenazi Jewish population, affecting approximately 1 in 850 individuals, with a carrier frequency of 1:17.10-12
Lysosomal storage diseases often present in infancy and childhood, but late-onset disease can occur in adulthood.1 Clinical features of lysosomal storage diseases are heterogeneous, but may include enlargement of abdominal organs and skeletal dysmorphia, which can be associated with developmental delay or other deficits associated with the central nervous system.1,13 Diagnosis of lysosomal storage diseases is based on clinical symptoms and diagnostic testing, including enzymatic analysis and single gene sequencing. Patients may present with a continuum of disease severity. Diagnosis may be delayed, especially in milder cases with longer survival, if clinical symptoms are similar to other more common conditions.1
Despite the complex cellular pathogenesis of lysosomal storage diseases, several can be treated with approved treatments such as enzyme replacement therapy.1
C-ANPROM/INT//7566; Date of preparation: September 2020
- Platt FM, d'Azzo A, Davidson BL, et al. Lysosomal storage diseases. Nat Rev Dis Primers 2018; 4: 27.
- Settembre C, Fraldi A, Medina DL, et al. Signals from the lysosome: a control centre for cellular clearance and energy metabolism. Nat Rev Mol Cell Biol 2013; 14: 283-296.
- Dandana A, Ben Khelifa S, Chahed H, et al. Gaucher disease: clinical, biological and therapeutic aspects. Pathobiology 2016; 83: 13-23.
- Dionisi-Vici C, Rizzo C, Burlina AB, et al. Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr 2002; 140: 321-327.
- Poupětová H, Ledvinová J, Berná L, et al. The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis 2010; 33: 387-396.
- Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA 1999; 281: 249-254.
- Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999; 105: 151-156.
- Pinto R, Caseiro C, Lemos M, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 2004; 12: 87-92.
- Nalysnyk L, Rotella P, Simeone JC, et al. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology 2017; 22: 65-73.
- Zimran A, Gelbart T, Westwood B, et al. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet 1991; 49: 855-859.
- Zimran A, Elstein D. Gaucher disease and related lysosomal storage diseases. In: Kaushansky K, Lichtman M, Prchal J, et al., eds. Williams Hematology. 9th ed; New York, NY: McGraw-Hill, 2016.
- Fares F, Badarneh K, Abosaleh M, et al. Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated? Prenat Diagn 2008; 28: 236-241.
- Parenti G, Andria G, Ballabio A. Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med 2015; 66: 471-486.
Interactive case study
Getting the diagnosis right in children & adolescents
BURDEN OF DISEASE
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.
Events
WORLDSymposiumTM 2021 congress reports
The WORLDSymposiumTM was held as a virtual meeting this year (7–12 February 2021) and brought together key opinion leaders from the field of lysosomal disorders and rare diseases.
Events
The 14th European Working Group on Gaucher Disease (EWGGD) congress reports
The EWGGD was held as a virtual meeting for 2020 (12–13 October 2020) and covered key topics in the field of Gaucher disease.
BURDEN OF DISEASE
Gaucher disease
What is Gaucher disease?
Gaucher disease is the most common form of the sphingolipidosis, a type of lysosomal storage disorder. It is a multisystemic chronic disease involving the liver, spleen, bone marrow and lymph nodes with familial aggregation.
BURDEN OF DISEASE
Comorbidities of Gaucher disease
What comorbidities are associated with Gaucher disease?
Patients with Gaucher disease may experience a wide range of comorbidities, including: haematological malignancies; neurological disorders; metabolic disorders; immunological disorders; and gastrointestinal disorders.
BURDEN OF DISEASE
Rare diseases
What is a rare disease?
According to The European Commission, a rare disease affects no more than 1 in 2000 individuals.
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