Gaucher disease is passed down from parents to children (is inherited). It is caused by a problem with the GBA gene. It is an autosomal recessive disorder. This means that each parent must pass along an abnormal GBA gene for their child to get Gaucher.
Anyone can have the disorder, but people with Ashkenazi Jewish (Eastern European) ancestry are more likely to have Gaucher disease type 1. Of all people of Ashkenazi (or Ashkenazic) Jewish descent, nearly 1 in 450 has the disorder, and 1 in 10 carries the gene change that causes Gaucher disease.
The infantile form of Gaucher disease (Type 2) may lead to early death. Most affected children die before age 5. Adults with the type 1 form of Gaucher disease can expect normal life expectancy with enzyme replacement therapy.
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.
This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Gaucher disease is an autosomal recessive disorder. That means a person must receive the Gaucher gene from both parents in order to have the disease.
Malnutrition, overweight and obesity. Abnormal body weight and related metabolic disturbances are common issues for GD1 patients.
Forty five percent of the evaluated type I Gaucher patients exhibited autoimmune phenomena.
Many people with Gaucher disease experience chronic bone pain. The pain, caused by reduced blood flow to the bone, is usually dull and often localized to the joints, legs, and back. Approximately 15% to 20% of people with Gaucher disease report having episodes of bone crisis—bone pain that is extreme and acute.
A diagnosis of Gaucher disease is suspected in individuals who have bone problems, enlarged liver and spleen (hepatosplenomegaly), changes in red blood cell levels, easy bleeding and bruising from low platlets or signs of nervous system problems.
Fact One: Gaucher disease affects one in 20,000 births. However, that number becomes one in 450 among the Ashkenazi Jewish population, where it is most commonly found. Fact Two: Gaucher causes an enzyme deficiency (glucocerebrosidase) that prevents the breakdown of fatty tissue.
Gaucher disease is a progressive lysosomal storage disorder due to deficiency of the specific enzyme glucocerebrosidase with varying clinical features, but often involving the monocytes-macrophages systems.
Health Conditions Related to Gaucher Disease
Left untreated, Gaucher disease can cause severe arthritis and joint destruction. Parkinson disease: Carriers and patients with Gaucher disease have a slightly increased risk of developing Parkinson disease later in life.
Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3.
Type 2 (Acute) Neuronopathic Gaucher Disease. Type 2 GD is a progressive neurodegenerative disorder, usually resulting in death by age 1–3 years [1]. All patients with type 2 GD experience a rapid neurological decline, but manifestations vary widely.
Both kids and adults with Gaucher should eat a healthy diet with foods rich in vitamin D and calcium to help keep bones strong, and get regular exercise. Vitamin D, calcium, or other supplements may help ease Gaucher symptoms too. Your doctor may recommend them if they think you're not getting enough in your diet.
It is a disorder passed from parents to children (inherited). It causes fatty substances called lipids to build up in certain organs such as the spleen and liver. Organs can become very large and not work well. It can also affect the lungs, brain, eyes, and bones.
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.
Lab tests. Blood samples can be checked for levels of the enzyme associated with Gaucher disease. Genetic analysis can reveal whether you have the 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.
More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher disease begins in infancy and typically results in death by 2 years of age.
Even though you may not feel like moving around when you're tired, your body needs exercise to stay healthy. The ideal activity program for Gaucher combines strength training, balance exercises, and aerobics (movement that gets your heart pumping).
The pathologic hallmark of Gaucher disease is Gaucher cells in the macrophage-monocyte system typically found in the bone marrow. These cells have a characteristic wrinkled-paper appearance, resulting from intracytoplasmic substrate deposition, and stain positive with periodic acid–Schiff.
Type 3 Gaucher disease, the juvenile form, can begin at any time during childhood. Children with type 3 disease have an enlarged liver and spleen, bone abnormalities, eye problems, and slowly progressive neurologic problems (such as dementia and lack of coordination [ataxia]).
Enzyme Replacement Therapy (ERT)
The FDA has approved treatments for Gaucher Disease including: Cerezyme® (imiglucerase) VPRIV® (velaglucerase alfa) Elelyso® (taliglucerase alfa)