Understanding Gaucher Disease
Gaucher disease is a rare disease that causes accumulation of glucosylceramide (GL-1) resulting in progressive, multiorgan dysfunction. Clinical manifestations of Gaucher disease include anemia, thrombocytopenia, hepatosplenomegaly, and skeletal disease. 1,2 Symptoms should not be ignored, as this progressive condition may lead to future medical complications. Early onset of Gaucher disease correlates with more severe disease and high risk of complications.2,3
Gaucher disease: What you need to know
Gaucher disease is marked by extreme diversity in genotype, phenotype, age of onset, and disease severity, as well as an unpredictable, progressive disease course. Signs, symptoms, and clinical course may differ even among individuals with the same genotype and within the same family.4-6
Gaucher disease type 1 often mimics the signs and symptoms of many hematological malignancies. It also may display inactive periods interrupted by episodes of acute crises or evidence of disease advancement.2,7 Patients may appear to be asymptomatic, yet harbor mild disease manifestations such as cytopenia, splenomegaly, or osteopenia.8
There are 3 types of Gaucher disease, each with different manifestations9:
More than 90% of Gaucher disease patients are type 12
Consequences of a delayed diagnosis and treatment
A missed or delayed diagnosis of Gaucher disease is common and can have serious consequences. Gaucher disease type 1 is progressive, yet almost 25% of patients do not get timely access to appropriate disease management because of delays in diagnosis.7,8
Regardless of symptoms or severity, it is important to diagnose Gaucher disease type 1 as soon as possible to prevent significant morbidity and premature mortality that may occur due to a diagnostic delay.7
Gaucher disease type 1 is progressive, so a delay in diagnosis AND MANAGEMENT can lead to severe and potentially life-threatening complications7,8,10:

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
Patients may appear to be asymptomatic, yet harbor mild disease manifestations such as cytopenia, splenomegaly, and osteopenia8
In the short term, therapy may improve11
- Anemia
- Thrombocytopenia
- Hepatomegaly
- Splenomegaly