Gaucher Disease

Gaucher disease is an inherited disorder that
affects many of the body's organs and tissues. The signs and symptoms of this
condition vary widely among affected individuals. Researchers have described
several types of Gaucher disease based on their characteristic features.

Type 1 Gaucher disease is the most common
form of this condition. Type 1 is also called non-neuronopathic Gaucher disease
because the brain and spinal cord (the central nervous system) are usually not
affected. The features of this condition range from mild to severe and may
appear anytime from childhood to adulthood. Major signs and symptoms include
enlargement of the liver and spleen (hepatosplenomegaly), a low number of red
blood cells (anemia), easy bruising caused by a decrease in blood platelets
(thrombocytopenia), lung disease, and bone abnormalities such as bone pain,
fractures, and arthritis.

Types 2 and 3 Gaucher disease are known as
neuronopathic forms of the disorder because they are characterized by problems
that affect the central nervous system. In addition to the signs and symptoms
described above, these conditions can cause abnormal eye movements, seizures,
and brain damage. Type 2 Gaucher disease usually causes life-threatening
medical problems beginning in infancy. Type 3 Gaucher disease also affects the
nervous system, but tends to progress more slowly than type 2.

The most severe type of Gaucher disease is
called the perinatal lethal form. This condition causes severe or
life-threatening complications starting before birth or in infancy. Features of
the perinatal lethal form can include extensive swelling caused by fluid
accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or
other skin abnormalities; hepatosplenomegaly; distinctive facial features; and
serious neurological problems. As its name indicates, most infants with the
perinatal lethal form of Gaucher disease survive for only a few days after
birth.

Another form of Gaucher disease is known as
the cardiovascular type because it primarily affects the heart, causing the
heart valves to harden (calcify). People with the cardiovascular form of
Gaucher disease may also have eye abnormalities, bone disease, and mild
enlargement of the spleen (splenomegaly).

1. http://www.fitango.com/categories.php?id=330 Fitango Education Health Topics Gaucher Disease

2. 1 Overview Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described

3. 2 Overview several types of Gaucher disease based on their characteristic features. Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not

4. 3 Overview affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red

5. 4 Overview blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis. Types 2 and 3 Gaucher disease are known as

6. 5 Overview neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures,

7. 6 Overview and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but tends to progress more slowly than type 2. The most severe type of Gaucher disease is

8. 7 Overview called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid

9. 8 Overview accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the

10. 9 Overview perinatal lethal form of Gaucher disease survive for only a few days after birth. Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the

11. 10 Overview heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).

12. 11 Symptoms Symptoms vary depending on the type of disease, but may include: -- Bone pain and fractures -- Cognitive

13. 12 Symptoms impairment -- Easy bruising -- Enlarged spleen (splenomegaly) -- Enlarged liver (hepatomegaly) -- Fatigue -- Heart valve

14. 13 Symptoms problems -- Lung disease -- Seizures -- Severe swelling (edema) at birth -- Skin changes

15. 14 Diagnoses The doctor will perform a physical exam. The patient may have signs of liver and spleen swelling, bone changes, lung disease, eye movement problems, heart problems, or hearing loss.

16. 15 Diagnoses The following tests may be performed: -- Blood test to look for enzyme activity -- Bone marrow aspiration -- Biopsy of the spleen

17. 16 Diagnoses -- MRI -- CT -- X-ray of the skeleton -- Genetic testing

18. 17 Treatment Enzyme replacement therapy is available. A bone marrow transplant may be needed in severe cases. How well a person does depends on the subtype of the disease. The infantile form of Gaucher disease

19. 18 Treatment may lead to early death. Most affected children die before age 5. Adults with the type 1 form of the disease can expect normal life expectancy with enzyme replacement therapy. -- Seizures -- Anemia

20. 19 Treatment -- Thrombocytopenia -- Bone problems

21. 20 Causes Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Persons of Eastern and Central European (Ashkenazi) Jewish heritage are at highest risk for the disease.

22. 21 Causes It is an autosomal recessive disease. This means that the mother and father must both pass one abnormal copy of the gene to the child in order for the child to develop the disease. A parent who silently carries an abnormal copy of the gene is called a carrier.

23. 22 Causes The lack of the glucocerebrosidase enzyme causes harmful substances to build up in the liver, spleen, bones, and bone marrow. The substances prevent cells and organs from working properly. There are three main subtypes of Gaucher

24. 23 Causes disease: -- Type 1 disease is most common. It involves bone disease, anemia, an enlarged spleen and thrombocytopenia. Type I affects both children and adults. It is most common in

25. 24 Causes the Ashkenazi Jewish population. -- Type 2 disease usually begins in infancy with severe neurologic involvement. This form can lead to rapid, early death. -- Type 3 disease

26. 25 Causes may cause liver, spleen, and brain problems. Patients may live into adulthood.

27. 26 Prevention Genetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can determine if parents carry the gene that could pass on the Gaucher disease. A

28. 27 Prevention prenatal test can also tell if the fetus has Gaucher syndrome.