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Living with Gaucher disease: challenging encounters along the patient journey

Chris Cammack Ashfield MedComms Gaucher Disease

Chris Cammack, scientific content director at Ashfield MedComms, an Ashfield Health company, has worked in the rare disease space for over seven years. Chris provides an overview of the seemingly endless challenges faced by patients with Gaucher disease and highlights how the future for these patients looks increasingly bright

Life can be full of challenges for patients with Gaucher disease, the rare inherited metabolic disorder. Not only do patients have to contend with the progressive and disabling nature of the condition itself, but they may also have to overcome other significant hurdles as they progress along the journey from first symptoms to diagnosis and subsequent treatment.

The disease

Gaucher disease is a lysosomal storage disorder.1 Mutations in the GBA gene cause a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to the accumulation of its lipid substrate, glucosylceramide, in specific cells of the body known as macrophages.2 These lipid-laden macrophages now become known as “Gaucher cells” and infiltrate major organs in the body, giving rise to the symptoms of the disease.2

Gaucher disease is a chronic multi-systemic condition, the main signs and symptoms of which include increased bruising and bleeding, bone pain and fractures, an enlarged liver and spleen and growth retardation.1,2 Chronic fatigue is also regarded by patients as a significant debilitating symptom which can impair quality of life.3,4 Not every patient with Gaucher disease develops every possible symptom.5 A proportion of patients with Gaucher disease may even be asymptomatic.6 However, when symptoms are present, they have the potential to be considerable, painful and even life-changing for the patient.5

Interesting fact: the incidence of Gaucher disease is approximately 1 in 40,000 to 1 in 50,000 live births in the general population7

Three types of Gaucher disease have been described. The most common form of the disease is type 1 Gaucher disease, generally considered to be a systemic disorder without neurological involvement.2 Neurological symptoms are the defining features of types 2 and 3 Gaucher disease and include cognitive impairment, seizures and spasticity.2,8 Early death in infancy is also characteristic of type 2 Gaucher disease.2,8 The physical burden of Gaucher disease is unquestionable for symptomatic patients; the emotional and psychological impact of living with Gaucher disease can also have a considerable impact on patient quality of life.3,5,9,10

The diagnosis

One of the biggest challenges facing patients with Gaucher disease is managing to secure a correct diagnosis. However, as is often the case for a rare disease, the diagnosis of Gaucher disease can be far from straightforward. There is a wide variability in the age of onset, severity and type of clinical manifestations of Gaucher disease at presentation.6 Coupled with this, non-specialists are typically unfamiliar with the early clinical signs and symptoms of disease.11 Misdiagnoses are all too common, inevitably leading to unnecessary and potentially invasive diagnostic procedures.6,12 Obtaining a confirmed diagnosis can take patients with Gaucher disease an average of 6–8 years, often involving referrals to as many as eight different specialists.6,12,13 Unfortunately, diagnostic delays can come at considerable cost to the patient, resulting in irreversible complications of disease and significant morbidity.6

Interesting fact: potential misdiagnoses for patients with Gaucher disease include leukaemia, liver cancer, vitamin B12 deficiency, allergies and growing pains6

It is perhaps no great surprise that some patients can experience feelings of relief upon receiving a confirmed diagnosis of Gaucher disease.5 After years of not knowing the root cause of their symptoms, at least patients finally have a name for their condition and can now begin treatment. For others, a diagnosis of Gaucher disease can be concerning and lead to mood changes, anxiety and an increase in stress.5 The uncertainties of living with a chronic disease mean that making short- and long-term plans can become challenging for these patients. This is particularly true for adult patients who may now face difficult decisions about major life choices, such as whether or not to get married or to have children.5,10,14

The comorbidities

A range of comorbidities have been reported in patients with Gaucher disease, which can add to the physical, emotional and psychological burden that these patients may have to endure. Comorbidities can also increase the complexity of long-term disease management.15

Mutations in the GBA gene have been linked to Parkinson’s disease.16,17 Both patients with Gaucher disease and carriers of the GBA mutation are at an increased risk of developing Parkinson’s disease over their lifetime compared with the general population.18 Indeed, patients with type 1 Gaucher disease have an almost 20-fold increased life-time risk of developing Parkinson’s disease.19 Further, patients with GBA mutations can develop Parkinson’s disease at an earlier age compared with those without these mutations.17 Although clinical experience suggests that not every carrier of the GBA mutation will necessarily develop Parkinson’s disease, the association between the two conditions can still be a considerable cause for concern in patients with Gaucher disease.4,16

Interesting fact: in addition to Parkinson’s disease, comorbidities reported in patients with Gaucher disease include liver cirrhosis, lymphomas, pulmonary hypertension, gallstones, recurrent abortions, multiple myeloma and hepatocellular carcinoma20

Patients with Gaucher disease also have an increased risk of developing certain types of cancer, in particular haematological malignancies such as multiple myeloma.21 The risk of multiple myeloma is up to 50 times greater in patients with Gaucher disease than in people without the disease.22,23 Whilst the association between solid organ cancers and Gaucher disease is less clear cut, the incidence of hepatocellular carcinoma is greater in patients with Gaucher disease compared with the general population.23

The treatments

Although there is no cure for Gaucher disease, patients can be managed with either enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) once diagnosed. Both approaches have proved to be effective and well tolerated in the management of type 1 Gaucher disease.2,11,24 However, these current treatments are not effective against the neurological manifestations of disease seen in types 2 and 3 Gaucher disease.11

Patients with Gaucher disease typically face a lifetime dependency on treatment.2 In the case of ERT, an hourly intravenous infusion is required every other week. Such regular long-term infusions can be a burden for some patients, impacting work, family and social activities and negatively affecting quality of life.25 Fortunately, in certain countries, patients now have the option to receive ERT infusions in the comfort of their own homes.25

Interesting fact: recent evidence suggests that the infusion time of certain ERTs may be reduced from 1 hour to 10 minutes in patients with type 1 Gaucher disease without affecting tolerability or compromising efficacy26

While SRT offers the convenience of twice-daily oral therapy, it is not suitable for all patients with Gaucher disease and has the potential for interactions with other drugs.27 Both ERT and SRT can be expensive, limiting access to treatment for those patients in less economically developed countries.24 To date, there is no evidence to suggest that the risk of comorbidities associated with Gaucher disease can be reduced with either ERT or SRT.11

What does the future hold?

Without doubt, living with Gaucher disease can be challenging. However, the encouraging news for patients is that the future looks bright.

Firstly, the importance of striving for a timely and definitive diagnosis of Gaucher disease is now widely accepted. There is increasing recognition of the need to address the poor awareness of Gaucher disease among non-specialists and to educate them about the early clinical features of disease. By overcoming just some of the barriers associated with the diagnostic process, patient access to treatment should be quicker, and potentially irreversible complications of disease may be avoided, helping to improve patient quality of life and outcomes.

Secondly, the association between Gaucher disease and Parkinson’s disease is currently an area of intense research interest. Patients with Gaucher disease should be able to benefit from improved counselling about the potential risk of developing Parkinson’s disease as more is discovered about the link between the two conditions. Clinicians may also be better prepared to detect the early signs and symptoms of Parkinson’s disease in patients with Gaucher disease and know when to refer these affected patients to a neurologist.

Thirdly, an active scientific community is fully committed to investigating alternative treatments for Gaucher disease. There may be new treatment options on the horizon in the form of gene therapy and pharmacological chaperones. In Gaucher disease, mutations in the GBA gene cause the glucocerebrosidase enzyme to become unstable and dysfunctional.1 Pharmacological chaperones stabilise the mutant enzyme and help to increase its activity.11 Unlike ERT and SRT, pharmacological chaperones are small molecules that can cross the blood-brain barrier and they may prove to be effective against the neurological manifestations of Gaucher disease and GBA-associated Parkinson’s disease.28

Finally, the advent of an increasing number of patient advocacy organisations and charities provides patients and their families with access to a wealth of disease information and support, helping to address their feelings of isolation and ignorance about the disease.

Chris Cammack Ashfield MedComms Gaucher Disease


1. Ferreira CR, Gahl WA. Lysosomal storage diseases. Transl Sci Rare Dis. 2017;2(1-2):1-71.

2. Stirnemann J, Belmatoug N, Camou F, et al. A Review of Gaucher Disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2):441.

3. Zion YC, Pappadopulos E, Wajnrajch M, Rosenbaum H. Rethinking fatigue in Gaucher disease. Orphanet J Rare Dis. 2016;11(1):53.

4. Copeland FD, Correia LA, White ML. Uncovering the burden of Gaucher disease type 1: patient perspectives on unaddressed symptoms, impact of disease, and the future of treatment. Poster presented at: 17th Annual WORLDSymposium 2021; February 8-12, 2021.

5. Packman W, Crosbie TW, Behnken M, et al. Living with Gaucher disease: Emotional health, psychosocial needs and concerns of individuals with Gaucher disease. Am J Med Genet A. 2010;152A(8):2002-2010.

6. Mehta A, Belmatoug N, Bembi B, et al. Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians. Mol Genet Metab. 2017;122(3):122-129.

7. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008;372(9645):1263-1271.

8. Di Rocco M, Di Fonzo A, Barbato A, et al. Parkinson’s disease in Gaucher disease patients: what’s changing in the counseling and management of patients and their relatives? Orphanet J Rare Dis. 2020;15(1):262.

9. Giraldo P, Solano V, Pérez-Calvo JI, et al. Quality of life related to type 1 Gaucher disease: Spanish experience. Qual Life Res. 2005;14(2):453-462.

10. Packman W, Wilson Crosbie T, Riesner A, et al. Psychological complications of patients with Gaucher disease. J Inherit Metab Dis. 2006;29(1):99-105.

11. Revel-Vilk S, Szer J, Mehta A, Zimran A. How we manage Gaucher Disease in the era of choices. Br J Haematol. 2018;182(4):467-480.

12. Mistry PK, Sadan S, Yang R, et al. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. Am J Hematol. 2007;82(8):697-701.

13. Mehta A, Kuter DJ, Salek SS, et al. Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative. Intern Med J. 2019;49(5):578-591.

14. Gauchers Association. Living with Gaucher disease. Accessed 1 February 2022.

15. Utz J, Whitley CB, van Giersbergen PL, Kolb SA. Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: The potential for drug-drug interactions. Mol Genet Metab. 2016;117(2):172-178.

16. Riboldi GM, Di Fonzo AB. GBA, Gaucher disease, and Parkinson’s disease: From genetic to clinic to new therapeutic approaches. Cells. 2019;8(4):364.

17. Sidransky E, Nalls MA, Aasly JO, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson’s disease. N Engl J Med. 2009;361(17):1651-1661.

18. Zaretsky L, Zeid N, Naik H, et al. Knowledge and attitudes of Parkinson’s disease risk in the Gaucher population. J Genet Couns. 2020;29(1):105-111.

19. 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(2):167-173.

20. Zimran A, Ruchlemer R, Revel-Vilk S. A patient with Gaucher disease and plasma cell dyscrasia: bidirectional impact. Hematology Am Soc Hematol Educ Program. 2020;2020(1):389-394.

21. Thomas AS, Mehta A, Hughes DA. Gaucher disease: haematological presentations and complications. Br J Haematol. 2014;165(4):427-440.

22. Rosenbloom BE, Weinreb NJ, Zimran A, et al. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood. 2005;105(12):4569-4572.

23. 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(1):53-58.

24. Mistry PK, Lopez G, Schiffmann R, et al. Gaucher disease: Progress and ongoing challenges. Mol Genet Metab. 2017;120(1-2):8-21.

25. Elstein D, Burrow TA, Charrow J, et al. Home infusion of intravenous velaglucerase alfa: Experience from pooled clinical studies in 104 patients with type 1 Gaucher disease. Mol Genet Metab. 2017;120(1-2):111-115.

26. Zimran A, Revel-Vilk S, Becker-Cohen M, et al. Rapid intravenous infusion of velaglucerase-alfa in adults with type 1 Gaucher disease. Am J Hematol. 2018;93(9):E246-E248.

27. Belmatoug N, Di Rocco M, Fraga C, et al. Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe. Eur J Intern Med. 2017;37:25-32.

28. Han TU, Sam R, Sidransky E. Small molecule chaperones for the treatment of Gaucher disease and GBA1-associated Parkinson disease. Front Cell Dev Biol. 2020;8:271.

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