Gaucher Disease Follow-up

Updated: Aug 18, 2016
  • Author: Ellen Sidransky, MD; Chief Editor: Maria Descartes, MD  more...
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Further Outpatient Care

Most symptomatic patients with Gaucher disease receive enzyme replacement therapy (ERT), which is provided on an outpatient basis. [13] Monitoring for allergic reactions is essential.

Monitoring patients who receive taliglucerase or miglustat (Zavesca) every 6 months is recommended.

Patients with osteoporosis have responded favorably to bisphosphonates.

Patients not currently on therapy should be monitored at regular intervals for changes in organ size and/or hemoglobin and platelet counts.


Further Inpatient Care

Patients with Gaucher disease who have bone crises may require admission for pain relief. Patients with severe hematologic manifestations may have episodes of bleeding that require inpatient treatment.



Gaucher disease is inherited as an autosomal recessive trait. Although it is panethnic, Gaucher disease is more common in individuals of Ashkenazi Jewish. Although carrier-screening programs in this population have been established at some centers to identify couples at risk for having a child affected with Gaucher disease, testing must be offered in conjunction with genetic counseling to provide couples at risk, even asymptomatic individuals, with a description of the range of associated phenotypes and their options, which include prenatal diagnosis.

Newborn screening is not performed for Gaucher disease.



Bone crises may occur secondarily to infarcts. Avascular necrosis of the hip is not uncommon.

Splenic rupture can result from trauma.

Cirrhosis is a rare complication.

Rarely, pulmonary infiltration by Gaucher cells may manifest as overt lung disease, which may present as pulmonary infiltrates and lung consolidation; this pattern is especially common in patients with type 2 disease.

Parenchymal infiltration with fibrosis has been described in children with type 3 disease.

Intrapulmonary vascular dilatation in the presence or absence of portal hypertension has also been described in some patients with Gaucher disease, resulting in hypoxic lung disease.

Adult patients with pulmonary hypertension in the absence of infiltrative disease have been described; these patients may follow an inexorable progressive course despite therapy.

Hematologic abnormalities, including anemia, thrombocytopenia, and leukopenia, are common in individuals with Gaucher disease

Immunologic abnormalities, including hypergammaglobulinemia, T-lymphocyte deficiency in the spleen, and impaired neutrophil chemotaxis, are also common. The malignancy multiple myeloma is more common in individuals with Gaucher disease.

New evidence suggests that mutations in the gene for glucocerebrosidase are a risk factor for the development of Parkinson disease. [14, 15] Of subjects with Parkinson disease and related Lewy body disorders, 3-20% carry a mutation in glucocerebrosidase, with the higher frequency being among Ashkenazi Jewish subjects. [13]



Many individuals with Gaucher disease have few manifestations and a normal life expectancy without any intervention.

The prognosis for symptomatic patients with type 1 or type 3 Gaucher disease who receive treatment is very good, with a decrease in organomegaly and an eventual rise in hemoglobin levels and platelet counts.

A recent study estimated life expectancy at birth in patients with type 1 Gaucher disease to be 68 years, compared with 77 years in the reference population. [16]

Skeletal disease is slow to respond to ERT and widely varies.

Some patients describe symptomatic improvement within the first year of treatment, although a much longer period of ERT is required to achieve a radiologic response.


Patient Education

Patients with Gaucher disease and their families require education regarding the disease manifestations, variability in symptoms and disease progression, and potential complications. In addition, they should be counseled regarding the genetic risks