Gaucher disease is not very common, but if you or a loved one has just been diagnosed with it, you'll want to know everything there is to know about the disorder. Here are answers to the most common questions people have about the disease.
Gaucher disease is named after the French physician Philippe Charles Ernest Gaucher, who first discovered the disease in 1882 in a 32-year-old person whose liver and spleen were enlarged. Later, American physician Roscoe O. Brady demonstrated in 1965 that the accumulation of glucocerebroside results from a deficiency of the enzyme glucocerebrosidase.
People with Gaucher disease lack the normal form of the glucocerebrosidase enzyme. This means the specialized cells called macrophages that are supposed to remove worn-out cells in the body can't function properly, leading to a buildup of undigested glucocerebroside inside the lysosomes. The are called Gaucher cells and most often accumulate in the spleen, liver, and bone marrow.
Type 1 Gaucher disease is the most common form and affects people of all ages. Because Type 1 Gaucher disease does not affect the nervous system, it is sometimes referred to as non-neuronopathic Gaucher disease. Many people with Type 1 disease have no clinical symptoms and lead normal lives.
The most common sign of Type 1 Gaucher disease is an enlargement of the spleen and/or liver. Spleen enlargement is often the most frequent initial finding and may be first recognized when a child is as young as six months. Another sign of Gaucher involves the bones, where X-rays show a characteristic deformity in the thigh bones.
Copies of the gene for glucocerebrosidase are carried on a chromosome that does not determine sex of the individual, which means the defective glucocerebrosidase gene can be passed on to either males or females. Because Gaucher disease is an autosomal recessive disorder, an individual must inherit two defective copies of the gene, one from each parent.
Since Gaucher disease is a genetic disorder, all close blood relatives of patients with Gaucher disease are at risk of having the disease, or could be carriers. To screen for the disease, a blood sample is taken to measure glucocerebrosidase activity to determine if someone has it or is a carrier.