Gaucher's (go-SHAYZ) disease occurs when certain harmful fatty substances accumulate to excessive levels in your liver, spleen, lungs, bone marrow and, less commonly, brain. This accumulation of fatty material in tissues interferes with how your body works and may cause organ enlargement and bone pain.
Gaucher's disease is caused by a deficiency of the enzyme glucocerebrosidase, which helps the body process the fatty substance glucocerebroside. The disease is sometimes called glucocerebrosidase deficiency.
Gaucher's disease can occur at any age. It's most common in Jewish people of Eastern and Central European descent (Ashkenazi).
Treatment for Gaucher's disease may involve enzyme replacement and other therapies.
The major types of Gaucher's disease and associated symptoms are:
Type 1
This form of the disease is the most common and generally the mildest. Type 1 accounts for about 90 percent of cases. In this form of the disease, there's usually no damage to the brain. This type can occur at any age, although it's most common in adults, with an average age of 30 at the time of diagnosis. Possible signs and symptoms of type 1 Gaucher's disease include:
Skeletal abnormalities, including thinning of your bones (osteopenia), bone pain and bone fractures
Enlarged liver (hepatomegaly) or spleen (splenomegaly), or both
A decrease in healthy red blood cells (anemia)
Excessive fatigue
A greater susceptibility to bruising, which may mean you have a low number of blood platelets (thrombocytopenia)
Yellow spots in your eyes (pingueculae)
Delayed puberty
Nosebleeds
he cause of Gaucher's disease is a deficit of the enzyme glucocerebrosidase. This enzyme normally breaks down fatty substances (lipids) called glucocerebrosides. When the enzyme is scarce, however, the fatty substances can build up in your brain and other organs, and within your bone marrow.
Gaucher's disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher's genetic mutation for their child to develop the condition. So far, researchers have noted more than 300 genetic mutations associated with Gaucher's disease. Even when both parents are carriers, there's still only a 25 percent chance that their child will develop the disease, compared with a 50 percent chance of their child being an unaffected carrier, and a 25 percent chance of his or her not being a carrier and not having the disease.
All types of Gaucher's disease tend to be progressive. Possible complications depend on the type of Gaucher's disease.
Complications of all types
Possible complications of all types of Gaucher's disease include:
Bone pain, which can become severe and may be associated with fractures.
A tendency to bleed, which may result in repeated hemorrhaging in the nostrils or nasal cavities, or bruising in the skin (ecchymosis).
An increased risk of certain cancers. Older people with Gaucher's disease may have an increased likelihood of developing certain types of cancer, particularly multiple myeloma — uncontrolled multiplication of plasma cells.
To treat type 1 or 3 Gaucher's disease, your doctor may recommend:
Enzyme replacement therapy. This approach replaces the deficient enzyme with artificial enzymes. These replacement enzymes are administered in an outpatient procedure through a vein (intravenously), typically in high doses at two-week intervals. Although results can vary, treatment is frequently effective in people with type 1 Gaucher's disease and, in some cases, type 3. In many people, enzyme replacement therapy can reduce the enlargement of the liver and spleen, help to resolve blood abnormalities and improve bone density. It's unclear whether this therapy is effective for the neurological problems of Gaucher's disease. Occasionally people experience an allergic or hypersensitivity reaction to enzyme treatment.
Bone marrow transplantation. This surgical procedure has been used for severe cases of Gaucher's disease. In this technique, blood-forming cells that have been damaged by Gaucher's are removed and replaced, which can reverse many of Gaucher's signs and symptoms. Because this is a high-risk approach, it's performed less often than is enzyme replacement therapy.
Medication. The oral medication miglustat (Zavesca) has been approved for use in people with Gaucher's disease. It appears to interfere with the production of glucocerebrosides in some people with type 1 disease. Diarrhea and weight loss are common side effects. This medication may also affect sperm production. Contraception is advised while using miglustat and for three months after stopping the drug.
Pregnancy
Although pregnancy may worsen the symptoms of Gaucher's disease, most women who have the disease can have a successful pregnancy. However, it's not clear if enzyme replacement should be continued during pregnancy.
Prognosis
People with mild cases of Gaucher's disease, particularly those who develop it in adulthood, have close to normal life expectancies. Children whose illness begins during infancy generally don't live beyond 2 years old. However, children with type 3 who live into their teens often survive for many more years.
They say when it rains it pours well I am ready for the rain to stop and the sun to start shining, I don't have very many people to count on in life and my list of friends continues to get shorter and shorter. I am not even sure who will be with me to fight this battle but I can't give up my daughter is counting on me. I am not even sure if my blog helps anyone but me, but I keep writing. It at least helps me put my thoughts down and maybe even get some kind of realization. If anyone is reading this please keep hope at this point in life it is always have to face the uncertainty of our future.
Type 1
This form of the disease is the most common and generally the mildest. Type 1 accounts for about 90 percent of cases. In this form of the disease, there's usually no damage to the brain. This type can occur at any age, although it's most common in adults, with an average age of 30 at the time of diagnosis. Possible signs and symptoms of type 1 Gaucher's disease include:
Skeletal abnormalities, including thinning of your bones (osteopenia), bone pain and bone fractures
Enlarged liver (hepatomegaly) or spleen (splenomegaly), or both
A decrease in healthy red blood cells (anemia)
Excessive fatigue
A greater susceptibility to bruising, which may mean you have a low number of blood platelets (thrombocytopenia)
Yellow spots in your eyes (pingueculae)
Delayed puberty
Nosebleeds
he cause of Gaucher's disease is a deficit of the enzyme glucocerebrosidase. This enzyme normally breaks down fatty substances (lipids) called glucocerebrosides. When the enzyme is scarce, however, the fatty substances can build up in your brain and other organs, and within your bone marrow.
Gaucher's disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher's genetic mutation for their child to develop the condition. So far, researchers have noted more than 300 genetic mutations associated with Gaucher's disease. Even when both parents are carriers, there's still only a 25 percent chance that their child will develop the disease, compared with a 50 percent chance of their child being an unaffected carrier, and a 25 percent chance of his or her not being a carrier and not having the disease.
All types of Gaucher's disease tend to be progressive. Possible complications depend on the type of Gaucher's disease.
Complications of all types
Possible complications of all types of Gaucher's disease include:
Bone pain, which can become severe and may be associated with fractures.
A tendency to bleed, which may result in repeated hemorrhaging in the nostrils or nasal cavities, or bruising in the skin (ecchymosis).
An increased risk of certain cancers. Older people with Gaucher's disease may have an increased likelihood of developing certain types of cancer, particularly multiple myeloma — uncontrolled multiplication of plasma cells.
To treat type 1 or 3 Gaucher's disease, your doctor may recommend:
Enzyme replacement therapy. This approach replaces the deficient enzyme with artificial enzymes. These replacement enzymes are administered in an outpatient procedure through a vein (intravenously), typically in high doses at two-week intervals. Although results can vary, treatment is frequently effective in people with type 1 Gaucher's disease and, in some cases, type 3. In many people, enzyme replacement therapy can reduce the enlargement of the liver and spleen, help to resolve blood abnormalities and improve bone density. It's unclear whether this therapy is effective for the neurological problems of Gaucher's disease. Occasionally people experience an allergic or hypersensitivity reaction to enzyme treatment.
Bone marrow transplantation. This surgical procedure has been used for severe cases of Gaucher's disease. In this technique, blood-forming cells that have been damaged by Gaucher's are removed and replaced, which can reverse many of Gaucher's signs and symptoms. Because this is a high-risk approach, it's performed less often than is enzyme replacement therapy.
Medication. The oral medication miglustat (Zavesca) has been approved for use in people with Gaucher's disease. It appears to interfere with the production of glucocerebrosides in some people with type 1 disease. Diarrhea and weight loss are common side effects. This medication may also affect sperm production. Contraception is advised while using miglustat and for three months after stopping the drug.
Pregnancy
Although pregnancy may worsen the symptoms of Gaucher's disease, most women who have the disease can have a successful pregnancy. However, it's not clear if enzyme replacement should be continued during pregnancy.
Prognosis
People with mild cases of Gaucher's disease, particularly those who develop it in adulthood, have close to normal life expectancies. Children whose illness begins during infancy generally don't live beyond 2 years old. However, children with type 3 who live into their teens often survive for many more years.
They say when it rains it pours well I am ready for the rain to stop and the sun to start shining, I don't have very many people to count on in life and my list of friends continues to get shorter and shorter. I am not even sure who will be with me to fight this battle but I can't give up my daughter is counting on me. I am not even sure if my blog helps anyone but me, but I keep writing. It at least helps me put my thoughts down and maybe even get some kind of realization. If anyone is reading this please keep hope at this point in life it is always have to face the uncertainty of our future.
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