About Gaucher Disease

Type 1 Gaucher Disease

Gaucher disease type 1 accounts for the incidence of approximately 90% of all Gaucher disease diagnoses. Though generally considered a non-neurological, adult form, it may present in childhood and neurological symptoms can occur in middle-age. Gaucher disease occurs in approximately 1/57,000 to 1/100,000 in the general population. It is typically characterized by enlargement of the spleen and liver, fatigue, delayed puberty, reduced bone mass and a deficiency of all cellular elements circulating in the blood stream.

Type 1 Gaucher disease is a lysosomal storage disease caused by a mutation in the GBA gene 1q21. This gene codes for glucocerebrosidase, which is a lysosomal enzyme. Enzymes are proteins that catalyze chemical reactions of other substances. Glucocerebrosidase helps cleave glucose from glucocerebrosides. Therefore, when there is a deficiency in Glucocerebrosidase, there will be an accumulation of glucosylceramidase in gaucher cells of the liver, spleen and bone marrow. Diagnosis of Gauchers disease can be confirmed by demonstrating a deficiency in glucocerebrosidase enzyme activity.

Methods to assess the severity of Gaucher disease include ultrasounds and magnetic resonance imaging (MRI’s) to determine enlargement of the patient’s spleen and liver. Radiography and MRI can be done to detect bone complications. Osteodensitometry can be done to determine bone density of the lumbar spine and femoral neck. A cardiac ultrasound can be done to detect hypertension of the pulmonary arteries.

Some patients with Type 1 Gaucher disease have no symptoms, while others develop serious symptoms that can be life threatening.