Health News
Are you or someone you love affected by Gaucher's disease?
A genetic disease, Gaucher's is caused by the deficiency of an enzyme that is the result of a genetic mutation. Without the enzyme, lipid (a fat) accumulates in the body and can cause symptoms that may appear any time.
Third year resident physician Malika Gupta, MBBS, presented at the Dr. Jennifer Ann Kierson Memorial Pediatric Grand Rounds at Sinai Hospital on Thursday, offering a primer on Gaucher?s disease.
Gaucher's disease symptoms can include, but are not limited to:
? easy bleeding and bruising
? excessive fatigue
? anemia
? weak bones
? enlarged liver and/or spleen causing a swollen stomach
There are three different types of Gaucher?s disease: Type 1, 2 and 3.
While Type 1 occurs throughout the world, it is most prevalent in descendants of Eastern European Jewish people. Within this population, Type 1 Gaucher Disease occurs at a rate of 1 in 450 live births, and is the most common genetically-based disease affecting Jewish people. The brain and spinal cord are not impacted in those with Type 1.
However, Types 2 and 3 are characterized by brain stem abnormalities. Type 2 is usually fatal during the first three years of life and occurs rarely; 1 in 100,000 live births. Type 3 Gaucher's disease is estimated to occur in 1 in 50,000 live births. The neurological symptoms of Type 3 Gaucher's disease are slowly progressive and appear later in childhood than the symptoms of Type 2 Gaucher's disease. Neurological symptoms of Type 3 Gaucher's disease include a lack of coordination, mental deterioration, and seizures.
Even if you do not have Gaucher's disease, you may be a carrier, as the National Gaucher Foundation estimates that, among Eastern European Jews, the carrier rate is around 1 in 15 people. Carrier status can be determined through a blood test. Talk to your physician about whether you might be a carrier.
If you suspect you or your child has Gaucher's disease, there are treatment options. To learn more about Sinai Hospital or to schedule an appointment, call 410-601-WELL (9355).
-Sandra Crockett
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Health News
A Primer on Gaucher's Disease
Are you or someone you love affected by Gaucher's disease?
A genetic disease, Gaucher's is caused by the deficiency of an enzyme that is the result of a genetic mutation. Without the enzyme, lipid (a fat) accumulates in the body and can cause symptoms that may appear any time.
Third year resident physician Malika Gupta, MBBS, presented at the Dr. Jennifer Ann Kierson Memorial Pediatric Grand Rounds at Sinai Hospital on Thursday, offering a primer on Gaucher?s disease.
Gaucher's disease symptoms can include, but are not limited to:
? easy bleeding and bruising
? excessive fatigue
? anemia
? weak bones
? enlarged liver and/or spleen causing a swollen stomach
There are three different types of Gaucher?s disease: Type 1, 2 and 3.
While Type 1 occurs throughout the world, it is most prevalent in descendants of Eastern European Jewish people. Within this population, Type 1 Gaucher Disease occurs at a rate of 1 in 450 live births, and is the most common genetically-based disease affecting Jewish people. The brain and spinal cord are not impacted in those with Type 1.
However, Types 2 and 3 are characterized by brain stem abnormalities. Type 2 is usually fatal during the first three years of life and occurs rarely; 1 in 100,000 live births. Type 3 Gaucher's disease is estimated to occur in 1 in 50,000 live births. The neurological symptoms of Type 3 Gaucher's disease are slowly progressive and appear later in childhood than the symptoms of Type 2 Gaucher's disease. Neurological symptoms of Type 3 Gaucher's disease include a lack of coordination, mental deterioration, and seizures.
Even if you do not have Gaucher's disease, you may be a carrier, as the National Gaucher Foundation estimates that, among Eastern European Jews, the carrier rate is around 1 in 15 people. Carrier status can be determined through a blood test. Talk to your physician about whether you might be a carrier.
If you suspect you or your child has Gaucher's disease, there are treatment options. To learn more about Sinai Hospital or to schedule an appointment, call 410-601-WELL (9355).
-Sandra Crockett
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A small pilot study of patients displaying signs of cognitive decline found that peanut butter can help identify those with Alzheimer?s disease, which is often accompanied by a loss of smell. The results indicate that loss in sense of smell may help in...
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March 24 is World Tuberculosis Day, an observance meant to spread awareness about the disease, which is the second leading cause of death worldwide after HIV/AIDS. The Centers for Disease Control and Prevention estimate about 2 million people die each...
- Biologics: The New Frontier
It is not a pleasant subject, but inflammatory bowel disease (IBD) is a fact of life for many people. That's especially tough when you are a child. ?There are about four million people in the U.S. with IBD,? says Ritu Walia, M.D., pediatric gastroenterologist...
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While Chronic Obstructive Pulmonary Disease is not fully reversible, patients and physicians can take action to minimize the disease's progression, a pulmonary expert said last week. COPD, which causes difficulty breathing, is the No. 4 cause of death...
- When A Big Stomach Is More Than A Big Stomach
When is a big stomach more than visible proof of eating way too much fatty food? When it is an accumulation of fluid, and not fat, that is causing the abdominal distension. It is called ?ascites,? a medical condition for an accumulation of fluid in the...