Common manifestations of Gaucher disease include an abnormally enlarged liver and/or spleen (hepatosplenomegaly), low levels of circulating red blood cells (anemia), low levels of platelets (thrombocytopenia), and skeletal abnormalities.
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.
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.
From the International Collaborative Gaucher Group (ICGG) Gaucher Registry, the mean life expectancy at birth of patients with Gaucher disease Type 1 has been reported as 68.2 years (63.9 years for splenectomised patients and 72.0 years for non-splenectomised patients), compared with 77.1 years in a reference ...
Common manifestations of Gaucher disease include an abnormally enlarged liver and/or spleen (hepatosplenomegaly), low levels of circulating red blood cells (anemia), low levels of platelets (thrombocytopenia), and skeletal abnormalities.
Pain is one of the most disabling symptoms of Gaucher disease. It is referred by the majority of Gaucher patients and often persists despite long-term enzyme replacement treatment.
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.
Diet as part of overall care for Gaucher disease
People with GD may be at higher risk for certain medical issues, and a nutritious diet can keep them on a healthy path. Weight gain: People often gain weight after starting ERT, which can lead to an increase in fatty liver and a risk of developing fatty liver disease.
There is also a 50:50 chance of having a child who only inherits the "Gaucher gene" from one parent, and becomes a carrier. If both parents have Gaucher disease, all of their children will inherit two "Gaucher genes" and will have the disease as well (see below).
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.
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.
In 57% of patients, Gaucher disease had 'no effect' on their social life and relationships with friends. However, for the 22% of patients who reported 'moderate' to 'extreme' effects, an inability to make plans, travel, dance or do physical activities was a problem.
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.
Forty five percent of the evaluated type I Gaucher patients exhibited autoimmune phenomena. Additionally, 24% presented with lymphoproliferative disorders.
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.
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.
Gaucher disease is equally prevalent in males and females, with a worldwide prevalence of 0.70 to 1.75 per 100,000 individuals.
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.
Patients with Gaucher disease type 3 have a shorter life expectancy, but treatment helps some patients with relatively mild neurological involvement live into their 50s.
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.
There is also a 50:50 chance of having a child who only inherits the "Gaucher gene" from one parent, and becomes a carrier. If both parents have Gaucher disease, all of their children will inherit two "Gaucher genes" and will have the disease as well (see below).
Gaucher disease can affect people of any ethnicity, but it is more common in people of Ashkenazi Jewish background. Q: How rare is Gaucher disease? A: About 1 in 57,000 people have Gaucher disease or approximately 125,000 people worldwide.
The most severe type of Gaucher disease is a very rare form of type 2 called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy.