Importance of Early Diagnosis

Diagnostic delay is common in Gaucher disease. In a survey of patients with Type 1 Gaucher disease, the average time from first appearance of symptoms of disease to final diagnosis was 48 months.1

Lymphoma, liver disease, fibromyalgia, growing pains, and osteoporosis are among the original diagnoses made in these patients. Additionally, a global survey of hematology-oncology specialists who were managing patients found that only 20% considered a diagnosis of Gaucher disease when presented with the classical signs and symptoms (bone pain, hepatosplenomegaly, and cytopenia).1 This highlights the need for increasing awareness and frequent reminding of physicians that Gaucher disease is a possible diagnosis for patients with these signs and symptoms.

The average time from first appearance of disease symptoms to final diagnosis is 2 years, however, nearly one fifth of patients experience a delay of ≥5 years2

1. MISTRY, PK et al. Am J Hematol. 2007;82(8):697-701.
2. THOMAS, AS. et al. Blood Cells Mol Dis 2013; 50(3): 212–7.

Consequences of Diagnostic Delay

Presentation of type 1 Gaucher disease may occur at anytime from early childhood to old age.1 Consequently, more than half of type 1 Gaucher disease patients are diagnosed before the age of 20,2 with an earlier age of onset predicting a more aggressive course of the disease.1

Furthermore, prolonged diagnostic delays may result in severe and irreversible clinical problems, including irreversible organ damage; fractures; sepsis; life threatening bleeding complications; and growth retardation in children.3
However, earlier and more accurate diagnosis of Gaucher disease could help reduce the impact of disease progression over time by allowing patients to receive appropriate management and specialist care sooner,4 and avoid inappropriate or unnecessary medical procedures, such as splenectomy and biopsies or treatments.3,5,6

Earlier onset of disease predicts a more aggressive course of disease1,2


Consequences of Diagnostic Delay3


Misdiagnoses may result in unnecessary procedures6

1. BURROW, TA. et al. Pediatric Health Med Ther 2011; 2: 59–73; 2.
2. GRABOWSKI, GA. Lancet 2008; 372: 1263–71
3. MISTRY, P. et al. Am J Hematol 2007; 82(8): 697–701.
4. JOHNSON, BA. Curr Protoc Hum Genet 2014; 82: 17.15.1–6.
5. WEINTHAL, JA. Clin Adv Hematol Oncol. 2012;10(6), Suppl 8:10‒1.
6. MISTRY, P. et al. Am J Hematol 2011; 86(1): 110–5.

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