Lipid Storage Disease
Brief Description of the Disease
Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. Fatty materials can accumulate in the spleen, liver, lungs, bone marrow, and brain. Lipids are fatty materials that include oils, fatty acids, waxes, and steroids (such as cholesterol and estrogen).
Forms or Kinds
Type 1 Gaucher disease
The most common type. Symptoms may begin early in life or in adulthood. People in this group usually bruise easily due to low blood platelets and experience fatigue due to anemia They also have an enlarged liver and spleen, skeletal disorders, and, in some instances, lung and kidney impairment. There are no signs of brain involvement. Symptoms can appear at any age. Many individuals may have a mild form of the disorder and not show any symptoms.. Occasional patients with type 1 Gaucher disease develop pulmonary involvement, parkinsonism, or portal hypertension.
Type 2 Gaucher disease
Characterized by a rapid neurodegenerative course with extensive visceral involvement and death within the first 2 years of life. liver and spleen enlargement are apparent by 3 months of age. The progressive psychomotor degeneration and brain stem involvement leads to death, usually caused by aspiration and respiratory compromise.
Type 3 Gaucher disease
This form of Gaucher disease widely varies and can present in infancy or childhood also called Chronic neuropathic Gaucher disease. Liver and spleen enlargement is variable, and signs of brain involvement such as seizures gradually become apparent. Major symptoms also include skeletal irregularities, eye movement disorders, seizures, respiratory problems and blood disorders.
All 3 types of Gaucher disease are inherited as autosomal recessive traits and have an equal sex distribution
1: 40,000 to 50,000
- Diagnosis can be confirmed through measurement of glucocerebrosidase activity in peripheral blood leukocytes.
- Obtain CBC count and differential to assess the degree of cytopenia.
- Liver function enzyme testing
- Imaging Studies such as MRI, skeletal radiography.
- Chest radiography to evaluate pulmonary manifestations. Dual-energy x-ray absorptiometry (DEXA) is useful in evaluating osteopenia
Enzyme replacement therapy is very beneficial for type 1 and most type 3 patients with this condition.
Enzyme replacement therapy is available for most people with types 1 and 3 Gaucher disease. Given intravenously every two weeks, this therapy decreases liver and spleen size, reduces skeletal anomalies, and reverses other symptoms of the disorder, including abnormal blood counts