Gaucher’s disease, the most common lysosomal storage disease, causes an abnormal accumulation of glucocerebrosides in reticuloendothelial cells. It occurs in three forms: Type I (adult); Type II (infantile); and Type III (juvenile). Type II can prove fatal within 9 months of onset, usually from pulmonary involvement.
Gaucher’s disease results from an autosomal recessive inheritance, which causes decreased activity of the enzyme glucocerebrosidase. Glucocerebrosidase deficiency leads to an accumulation of glucosylceramide in the storage compartments (lysosomes) of certain body cells. Glucosylceramide buildup occurs in the liver, spleen, bones, and bone marrow, eventually leading to decreased production of red blood cells (anemia) and thinning of the bones (osteopenia).
There are three forms of Gaucher’s disease, classified by age of onset and the presence or absence of neurologic involvement. Type I, characterized by lack of neurologic involvement, is the most common form affecting both children and adults and is most prevalent in the Ashkenazi Jewish population, affecting anywhere from 1 of 500 to 1,000 births. Type II usually presents in infancy with severe neurologic involvement, resulting in seizures and central nervous system damage. Type II also presents with spleen and bone marrow damage. Type III typically has mild neurologic involvement and runs a slower, more favorable course. The incidence of Types II and III is 1 of 50,000 to 100,000 births. The juvenile form can begin in childhood, typically in the teenage years, and cause spleen, bone marrow, and neurologic damage.
The key signs of all types of Gaucher’s disease are hepatosplenomegaly and bone lesions. In Type I, bone lesions lead to thinning of cortices, pathologic fractures, collapsed hip joints and, eventually, vertebral compression. Severe episodic pain may develop in the legs, arms, and back but usually not until adolescence. (The adult form of Gaucher’s disease is generally diagnosed while the patient is in his teens; the word “adult” is used loosely here.) Other clinical effects of Type I are fever, abdominal distention (from hypotonicity of the large bowel), respiratory problems (pneumonia or, rarely, cor pulmonale), easy bruising and bleeding, anemia and, rarely, pancytopenia. Older patients may develop a yellow pallor and brown-yellow pigmentation on the face and legs.
In Type II, motor dysfunction and spasticity occur at age 6 to 7 months. Other signs of the infantile form of Gaucher’s disease include abdominal distention, strabismus, muscle hypertonicity, retroflexion of the head, neck rigidity, dysphagia, laryngeal stridor, hyperreflexia, seizures, respiratory distress, and easy bruising and bleeding.
Clinical effects of Type III after infancy include seizures, hypertonicity, strabismus, poor coordination and mental ability and, possibly, easy bruising and bleeding.
Supportive laboratory results include increased serum acid phosphatase level, decreased platelets and serum iron level and, in Type III, abnormal EEG after infancy.
Treatment is mainly supportive and consists of vitamins, supplemental iron or liver extract to prevent anemia caused by iron deficiency and to alleviate other hematologic problems, blood transfusions for anemia, splenectomy for thrombocytopenia, and strong analgesics for bone pain. Injections of areplacement synthetic enzyme have proven helpful. Gene therapy is an experimental approach. An oral treatment with N-butyl deoxynojirimycin (OGT 918), which inhibits glucocerebrosidase formation, is being evaluated. Clinical trials have shown improvement in the key clinical features of Gaucher’s disease, including liver and spleen size and, to a lesser degree, blood counts.
❑ In the patient confined to bed, prevent pathologic fractures by turning him carefully. If he is ambulatory, make sure that he’s assisted when getting out of bed or walking.
❑ Observe closely for changes in pulmonary status.
❑ Explain all diagnostic tests and procedures to the patient or his parents. Help the patient accept the limitations imposed by this disorder.
❑ Recommend genetic counseling for patients with a family history of Gaucher’s disease. Prenatal testing can determine if a fetus has the syndrome.
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Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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Title: Professional Guide to Diseases (Eighth Edition)
Authors: Springhouse
Publisher: Lippincott Williams & Wilkins
Copyright: 2005
ISBN: 1-58255-370-X
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