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About Gaucher
Gaucher disease is a chronic, progressive, inherited genetic disorder. People with Gaucher disease lack
sufficient levels of a particular enzyme. As a result of this enzyme deficiency, a fatty material, or lipid, accumulates in
the body. Lipid accumulation in organs and bones can cause mild to severe symptoms that can appear at any time throughout
life, from infancy to adulthood.
It is estimated that approximately 1 in 40,000 to 60,000 people in the general population have Gaucher
disease, or about 10,000 people worldwide. Among Jews of Ashkenazi (Eastern European) descent, the incidence is higher: up
to 1 in 450 people. The higher frequency of Gaucher disease among this population has led to the misconception that Gaucher
disease is a "Jewish genetic disease,” but in fact, individuals of any ethnic or racial background may be affected.
Gaucher disease is the most common condition in a family of diseases known as lysosomal storage disorders.
The enzyme that is not working well in Gaucher disease is called glucocerebrosidase (pronounced gloo-ko-ser-e-bro-si-dase).
This enzyme helps the body break down glucocerebroside (gloo-ko-ser-e-bro-side), a fatty substance stored inside the lysosome,
or tiny sac-like structure, of certain cells. With insufficient enzyme activity, glucocerebroside accumulates inside the lysosome
and causes the cell to become bloated. Cells that have accumulated a lot of glucocerebroside are called Gaucher cells and
have a typical look when viewed under a microscope.
Signs and Symptoms
The signs and symptoms of Gaucher disease are a result of the progressive accumulation of Gaucher cells
in the body. Gaucher cells typically accumulate in the spleen, liver, and bone marrow. However, they may also collect in other
tissues, including the lymphatic system, lungs, skin, eyes, kidney, heart, and in rare instances, the nervous system.
Symptoms can appear at any age, but usually are first noticed in childhood or adolescence. They include:
 easy bleeding and bruising excessive fatigue anemia weak bones fracturing too easily bone and joint pain enlargement of the belly through increase in the volume of spleen and liver. The type and severity of symptoms can vary widely among individuals. Some individuals do not experience
any symptoms until they are elderly, while others may develop life-threatening conditions during childhood. Gaucher disease
is progressive and, if left untreated, will usually become worse over time.
Signs of Gaucher disease may include abnormal blood tests such as too few red blood cells and/or platelets,
or abnormalities on X-ray pictures such as bone deformity. www.guachercare.com
Patient History
Nine Year old girl, U.S born, Haitian orgin, admitted to hospital with chronic hepatosplenomegaly and acute thigh pain.
Good health during childhood, no disease in family, had frequent episodes of epistaxis three years ago.Mild abdominal dissention
began two years ago, no pain. Had hepatoselenomegaly confirmed two months be fore hospital admisson. three days before admission
developed severe thigh pain and unable to walk. had bone pain a year ago which went away on it's own. Upon admission she was
thin not ill, low grade fever, mild systolic hypertension, some enlarged lymph nodes and slight anemia. Liver function, lungs
and white cell count were normal. Blood and urine cultures were negative, no signs of ocular problems or other neurological
abnormalities. Radiographs and MRI showed bone issues-patchy sclerosis in left femoral head suggesting a previous episode
of avascular necrosis, as well as abnomalities in bone marrow density.
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