Gaucher Disease Follow-up

  • Author: Ellen Sidransky, MD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Jul 22, 2010
 

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.

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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.[6] Monitoring for allergic reactions is essential.

Monitoring patients who receive miglustat (Zavesca) every 6 months for possible development of peripheral neuropathy is recommended.

Patients with osteoporosis have responded favorably to bisphosphonates.

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Deterrence/Prevention

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.

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Complications

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 may be a risk factor for the development of Parkinson disease.[7]

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Prognosis

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.[8]

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.

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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

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Contributor Information and Disclosures
Author

Ellen Sidransky, MD  Senior Investigator, Chief, Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, NIH

Ellen Sidransky, MD is a member of the following medical societies: American Society of Human Genetics, Movement Disorders Society, Society for Inherited Metabolic Disorders, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Robert D Steiner, MD  Professor, Departments of Pediatrics and Molecular and Medical Genetics, Vice Chair for Research, Department of Pediatrics, Oregon Health and Science University School of Medicine; Director and Consulting Staff, Metabolic Bone Disease Clinic, Shriner's Hospital and Doernbecher Children's Hospital; Co-Director of Pediatric and Child Health Research, Oregon Clinical and Translational Research Institute (CTSA)

Robert D Steiner, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics, American Society of Human Genetics, Oregon Medical Association, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism, and Western Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

Hagop Youssoufian, MD, MSc  Vice President of Clinical Research, ImClone Systems Incorporated

Hagop Youssoufian, MD, MSc is a member of the following medical societies: American Society for Clinical Investigation, American Society of Clinical Oncology, American Society of Hematology, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

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Autosomal recessive inheritance pattern.
 
 
 
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