A missed or delayed diagnosis can have serious consequences

Gaucher disease is progressive, yet almost 25% of patients do not get timely access to appropriate disease management because of delays in diagnosis.1

Delays In Diagnosis Are Common When the diagnosis is missed, a patient with Gaucher disease may experience delay for up to 10 years2. Missed or delayed diagnosis can have serious consequences for Gaucher patients.

You Can Make the Difference Gaucher disease type 1 can be effectively managed once a diagnosis has been made.

Regardless of symptoms or severity, it is important to diagnose Gaucher disease type 1 as soon as possible and initiate timely treatment.2

Gaucher Disease type 1 is progressive and delay in diagnosis and management can lead to severe and potentially life-threatening complications1,2,3:

Bone pain, fractures, avascular necrosis, osteopenia, and osteoporosis

Growth failure in children

Lung disease and pulmonary hypertension

Hepatic, splenic, or marrow fibrosis

Shortened life span

Unnecessary procedures (i.e. liver biopsy, splenectomy, empirical corticosteroid therapy)

Bleeding and bleed complications

Anemia, fatigue, and pallor

Markedly reduced quality of life

In the short term, therapy may improve4

  • Anemia
  • Thrombocytopenia
  • Hepatomegaly
  • Splenomegaly

In the long run, therapy may prevent progressive manifestations4.

Doctor speaking to a patient
Diagram of the body with the spleen highlighted

Splenomegaly / thrombocytopenia?

No hematologic malignancies? It could be Gaucher.

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Doctor speaking to a patient

Gaucher disease can be managed1,6

Treatment options include oral therapies.1,6

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References:

1.Mistry PK, Cappellini MD, Lukina E, et al. A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110-115.

2. 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.

3. Cox TM. Gaucher disease: clinical profile and therapeutic developments. Biol Targets Ther. 2010;4:299-313.

4 . Linari S, Castaman G. Clinical manifestations and management of Gaucher disease. Clin Cases Miner Bone Metab. 2015. 12(2):157-164

5. Pastores GM, Hughes DA. Gaucher disease. GeneReviews®. Seattle WA: NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK1269/?report=printable. Published July 27, 2000. Updated June 21, 2018. Accessed October 30, 2020.

6. 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):ii, E441.