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Gaucher disease is an inherited illness caused by a gene mutation. Normally, this gene is responsible for an enzyme called glucocerebrosidase that the body needs to break down a particular kind of fat called glucocerebroside. In people with Gaucher disease, the body is not able to produce this enzyme properly and the fat cannot be broken down. It then accumulates, mostly in the liver, spleen and bone marrow. The disorder can result in pain, fatigue, jaundice, bone damage, anaemia and even death.
Gaucher disease is an autosomal recessive disorder. As in other recessive disorders, a couple where both people are carriers of the GD gene face a 25% chance in each pregnancy that their child will inherit two copies of the altered gene and, in all probability, have the disease.
There are three types of Gaucher disease.
Type 1 is by far the most common. Patients with Type 1 Gaucher disease can display a wide variation of clinical signs - even brothers and sisters with Gaucher disease can be affected very differently – and symptoms may occur at any age. Common symptoms include:
- General fatigue – lack of energy and stamina, tiredness even after a full night’s sleep
- Abdominal irregularities – enlarged spleen and liver, pain, compression of the lungs
- Skeletal irregularities - growth retardation in children, pain and degeneration of joints and bone-covering tissue, loss of bone density leading to widening of bones along the knee joint, curvature of the bones and spontaneous fractures, acute bone infarctions (‘bone crisis’), and bone necrosis (death of bone tissue)
- Blood problems - Increased bleeding tendency such as nosebleeds and bruising, subnormal levels of blood platelets and red and white blood cells, elevated levels of acid phosphatase and plasma proteins.
Rarer signs and symptoms include:
- Decreased ability of the lungs to provide oxygen to the blood
- Loss of appetite and intestinal complaints
- Disruption of normal kidney function
- Yellow-brown pigmentation of the skin and/or non-raised, round, purplish-red spots, especially around the eyes.
Type 2 Gaucher disease is a very rare form of the disease that affects the brain as well as the organs affected by Type 1. Neurological symptoms appear in infancy and due to their severity, afflicted children usually do not live past the age of 2.
Type 3 Gaucher disease (also very rare) is characterised by slowly progressive neurological disease, though this may vary markedly in severity. Other than nervous system involvement, Type 3 Gaucher symptoms (which usually appear in early childhood) resemble those of Type 1.
Gaucher disease is considerably more common in the descendants of Jewish people from eastern Europe (Ashkenazi), although individuals from any ethnic group may be affected. Among the Ashkenazi Jewish population, Gaucher disease is the most common genetic disorder, with an incidence of approximately 1 in 450 persons. In the general community, Gaucher disease affects approximately 1 in 100,000 persons. According to the USA National Gaucher Foundation, 2,500 Americans suffer from Gaucher disease.
Treatment for Type I Gaucher Disease has traditionally included periodic blood transfusions, partial or total spleen removal, and the use of pain relievers.
More recently enzyme replacement therapy has been successful in slowing and reversing the progression of many symptoms of Gaucher disease. The treatment consists of a modified form of the glucocerebrosidase enzyme given intravvenously. Performed on an outpatient basis, the treatment takes about 1-2 hours and is given every two weeks. Enzyme replacement therapy can stop and often reverse the symptoms of Gaucher disease, allowing patients to enjoy a better quality of life, but is ongoing – probably for life.
There is no predictable disease course of Type 1 Gaucher; prognosis generally depends on the severity at the time of diagnosis and the intervals between the onset of new disease complications.
Type 2 Gaucher Disease, called the acute neuropathic form, is characterized by brainstem abnormalities and is usually fatal during the first few years of life.
Individuals who have Type 3 Gaucher disease and reach adolescence may live into
their third or fourth decade.
Further Information and Support
Muscular Dystrophy Association of NSW
Locked Bag 9932, Beaconsfield NSW 2014
Ph: (02) 9697 9111
Better Health Channel
National Gaucher Foundation - USA
National Institute of Neurological Disorders and Stroke
National Organisation for Rare Diseases - USA
Reviewed by Dr Carolyn Ellaway, Clinical Specialist, The Children's Hospital at Westmead, Australia