What is Gauchers Disease?


What is Gauchers Disease?

Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher disease, you are missing an enzyme that breaks down fatty substances called lipids. Lipids start to build up in certain organs such as your spleen and liver.

What happens if you have Gaucher disease?

Gaucher disease is an inherited genetic disorder. It causes bone pain, anemia, enlarged organs, a swollen, painful belly and bruising and bleeding problems. There are three types of the disease. Some types of Gaucher disease can lead to severe brain damage and death.

Is Gaucher’s disease curable?

While there’s no cure for Gaucher disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. Some people have such mild symptoms that they don’t need treatment.

What does Gaucher’s disease look like?

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.

Is Gaucher’s disease fatal?

Because of the devastating brain damage, Gaucher disease type 2 is typically fatal within the first 2 years of life. While Gaucher disease type 2 is currently untreatable, researchers continue to look for answers.

What causes the symptoms of Gaucher disease?

Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function. The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures.

Is there another name for Gaucher disease?

Gaucher disease type 2, also known as acute neuronopathic Gaucher disease, occurs in newborns and infants and is characterized by neurological complications due to the abnormal accumulation of glucocerebroside in the brain.

What are the three types of Gaucher’s disease?

There are three varieties of type 3 Gaucher: 3a, 3b, and 3c. But these forms sometimes overlap in symptoms. Type 3b may cause liver or spleen problems earlier.

Is there a test for Gaucher disease?

An enzyme test called a beta-glucosidase leukocyte (BGL) test is the main tool that physicians use to diagnose Gaucher disease. This is because all patients with Gaucher disease will have low enzyme activity levels. Your physician can measure enzyme activity with a standard blood test.

How is the family of a person with Gaucher disease affected?

When one parent has Gaucher disease there is:

Both males and females are affected equally and the probability of having a child with Gaucher disease type 1 does not change, no matter how many children the parents have.

Is Gaucher disease an autoimmune disease?

Conclusions: Forty five percent of the evaluated type I Gaucher patients exhibited autoimmune phenomena. Additionally, 24% presented with lymphoproliferative disorders. DC function analysis showed a significant impairment of both iDCs and mDCs, reflected by their decreased uptake and antigen presenting capacities.

At what age is Gaucher disease diagnosed?

This analysis reported that 48% were diagnosed before the age of 6 years; 68% were diagnosed between the ages of 0 and 10 years; and 56% were diagnosed between the ages of 10 and 20 years. The age at onset of Gaucher disease can also be affected by specific genotypes (Figure 1).

Is Gaucher disease common?

Worldwide, Gaucher disease affects 1 in 40,000 people, but its frequency is as high as 1 in 450 people among Jews of Ashkenazi (Eastern European) descent. Although it is present at birth, symptoms can appear at any age.

Which ethnic group has the highest incidence of Gaucher disease?

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.

What type of doctor treats Gaucher disease?

Hematologist. A hematologist specializes in treating blood disorders. A hematologist can help track blood counts and monitor for blood conditions related to Gaucher disease, including: Clotting disorders.

What is the genotype of someone with Gaucher disease?

In affected patients, genotype data show that the presence of a single N370S allele is diagnostic of the type 1 or nonneuronopathic variant, whereas the L444P/L444P genotype is highly associated with neuronopathic variants in the Caucasian population.

What is the probability that the child has Gaucher disease?

Gaucher disease and. one is a carrier there is: A 50% (1 in 2) chance a child will have Gaucher disease. A 50% (1 in 2) chance a child will be a carrier.

What is the cousin to lupus?

Sjogren’s syndrome (SS) is a chronic autoimmune disorder in which the moisture-producing glands do not function correctly; SS can also affect internal organs. Sjogren’s syndrome is a relatively common disease, although often under-diagnosed.

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