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. This can cause many different symptoms.
What is the life expectancy of someone with Gaucher disease?
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 …
What are the signs and symptoms of Gaucher's disease?
- Enlarged spleen.
- Enlarged liver.
- Eye movement disorders.
- Yellow spots in the eyes.
- Not having enough healthy red blood cells (anemia)
- Extreme tiredness (fatigue)
- Bruising.
- Lung problems.
What are the causes of Gaucher's 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.
What are the effects of 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.
At what age is Gaucher disease diagnosed?
Although the
disease can be diagnosed at any age
, half of patients are under the age of 20 at diagnosis. The clinical presentation is heterogeneous with occasional asymptomatic forms.
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 part of the body does Gaucher disease affect?
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
.
Can you live a normal life with Gaucher disease?
Gaucher disease (pronounced go-SHAY) has a wide variety of symptoms. You may be relatively symptom-free, or you may experience more severe symptoms. If you or a family member has Gaucher disease, know that
many people live full lives
thanks to advances in Gaucher disease treatment.
What happens if Gaucher disease is left untreated?
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. However, most will never develop Parkinson.
How is Gaucher disease prevented?
You cannot prevent Gaucher disease
. If you have Gaucher disease or have a family history of the disorder, talk to a genetic counselor to help determine your at-risk family members.
What is the treatment of Gaucher disease?
There are current FDA-approved drug therapy options that include
enzyme replacement therapy (ERT) and substrate reduction therapy (SRT)
. Enzyme replacement therapy (ERT) has proven effective for individuals with Gaucher disease type 1.
Which type of Gaucher disease is the most treatable?
Gaucher disease type 1
, the most common form of Gaucher disease in western countries, is treatable. The non-neurological symptoms associated with type 3, the most common form of the disease worldwide, are also treatable.
How is Gaucher diagnosed?
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.
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.
What is Felty syndrome?
Felty syndrome is usually described as
associated with or a complication of rheumatoid arthritis
. This disorder is generally defined by the presence of three conditions: rheumatoid arthritis (RA), an enlarged spleen (spenomelgaly) and a low white blood cell count (neutropenia).
