My Account
About Us
Contact us
الواجهة العربية
Medical News Medical News
Aricles Articles
Events Events
Guidelines Guidelines
Videos Library Videos Library
Diseases Diseases
Follow us : facebook twitter Digg Linkedin Boxiz

Please select the categories you are intersted in:
News Articles Guidelines Events Videos Journals' abstracts

Latest Subscribers
Advanced Search »

Gaucher's disease


Disease: Gaucher's disease Gaucher's disease
Category: Endocrine and metabolic diseases

Disease Definition:

When certain harmful fatty substances are built to excessive levels in the lungs, bone marrow, liver, spleen and less commonly, the brain, Gaucher's disease occurs. This accumulation of fatty material in tissues could cause organ enlargement and bone pain because it interferes with the normal functioning of the body's organs.


A deficiency of the enzyme glucocerebrosidase is the cause of Gaucher's disease, which is also called glucocerebrosidase deficiency. This enzyme helps the body metabolize the fatty substance called glucocerebroside.


Gaucher's disease is most common in Eastern and Central European (Ashkenazi) Jewish people, and it could occur at any age.


Enzyme replacement and other therapies are some of the treatments for Gaucher's disease.


Work Group:

Symptoms, Causes


Usually, the signs and symptoms of Gaucher's disease vary widely from person to person, especially among the different types of the disease.


Listed below are some of the symptoms that are associated with the major types of Gaucher's disease:

Type 1:

This is the most common and mildest form of the disease. 90% of the cases that occur are type 1. This type of the disease could occur at any age; however, it is most prevalent in adults with the average age of 30 at the time of diagnosis. Usually, this type does not cause damage to the brain. Some of the possible signs and symptoms of type 1 Gaucher's disease could be:


  • Excessive fatigue
  • Hepatomegaly, an enlarged liver, or splenomegaly, an enlarged spleen, or both
  • Anemia, which is a decrease in healthy red blood cells.
  • Pingueculae, which are yellow spots in the eyes
  • Nosebleeds
  • Delayed puberty
  • Skeletal abnormalities, such as bone fractures, bone pain and osteopenia, which is the thinning of the bones.
  • A greater susceptibility to bruising which could be due to the low numbers of platelets, a condition called thrombocytopenia.
Type 2:

This is the most severe type of the disease, but it's quite rare. This type usually begins when the baby is three months old. The babies that have this type of the disease usually have extensive brain damage that progresses rapidly. In addition to the signs and symptoms listed above, there are some other possible problems that this type could cause, such as:


  • Rigidity
  • Seizures
  • Cognitive deterioration, including dementia or mental retardation.


Type 3:

This type of the disease usually begins in childhood or adolescence, and is quite rare. It progresses less rapidly than type 2, and is usually chronic. Despite the fact that the brain is involved in this type, however, it is usually milder than in type 2. Liver and spleen enlargement are some of the signs and symptoms that vary more in intensity than in type 2. These are some of the signs and symptoms that may occur in type 3 more than in type 1:


  • Loss of muscle coordination
  • Abnormal eye movements
  • Cognitive deterioration, such as dementia or mental deterioration.


A person should see a doctor for an evaluation in case they have any of the signs and symptoms that are associated with Gaucher's disease.


A deficit of the enzyme glucocerebrosidase is the cause of Gaucher's disease. Normally, this enzyme breaks down glucocerebrosides, which are fatty substances (lipids). However, these fatty substances could build up in someone's brain and other organs and within the bone marrow in case the enzyme is scarce.


Autosomal recessive is the inheritance pattern via which Gaucher's disease is passed along. In order for a child to have the condition, both parents have to be carriers of a Gaucher's genetic mutation. So far, more than 300 genetic mutations have been associated with this disease. There's still only a 25% chance that the child will develop the disease even when both parents are carriers. There's also a 25% chance that the child will not be a carrier and not have the disease, and a 50% chance that the child will be an unaffected carrier.



Some of the possible complications of all the types of Gaucher's disease may be:

A tendency to bleed:

This could result as bruising beneath the skin, a condition called ecchymosis, or it could result in repeated hemorrhaging in the nostrils or nasal cavities.

Bone pain:

This could be associated with fractures and could become severe and incapacitating.

An increased risk of certain cancers:

There's an increased likelihood in older people with this disease to develop certain types of cancer, such as multiple myeloma, which is the uncontrolled multiplication of plasma cells.



Serious neurological complications are more likely to occur in people with type 2 Gaucher's disease, such as:


  • Abnormal gait
  • Swallowing problems
  • Seizures


These problems could become debilitating and lead to death as they progress and become more severe.



The calcification of heart valves is more likely to occur in people with type 3 Gaucher's disease. This condition damages the valves and makes it increasingly difficult for them to open fully and function properly.


Some people that have type 1 Gaucher's disease have very mild symptoms and don't need any treatment at all. Type 2 Gaucher's disease has no specific treatment.


A person may be recommended some of these therapies to treat type 1 or 3 Gaucher's disease:


For people with Gaucher's disease, the oral medication miglustat  has been approved. In some people with type 1 disease, this medication interferes with the production of glucocerebrosides. Some of its common side effects include diarrhea and weight loss. Sperm production could be affected by this medication. While using miglustat and for three months after stopping it, contraception is advised.

Enzyme replacement therapy:

In this method, the deficient enzyme is replaced with synthetic enzymes. This treatment is administered in an outpatient procedure intravenously, usually at two-week intervals and in high doses.
This treatment is frequently effective in people with type 1 Gaucher's disease and in some cases of type 3, however, the results could vary. Usually, the enlargement of the liver and spleen is reduced by this therapy which also helps in resolving blood abnormalities. When children receive this therapy, their skeletal abnormalities are moderated and they experience a growth spurt and weight gain.
Whether this therapy is effective for the neurological problems of Gaucher's disease or not is still not clear. Sometimes, enzyme treatment could cause an allergic or hypersensitivity reaction.

Bone marrow transplantation:

In some severe cases of Gaucher's disease, this procedure is used, in which the blood forming cells that have been damaged by this disease are removed and replaced, reversing many of the signs and symptoms of Gaucher's disease. This method is performed less often than an enzyme therapy because it has high risks.



Most women with Gaucher's disease could have a successful pregnancy despite the fact that pregnancy could worsen the symptoms of this disease. However, whether enzyme replacement should be continued during pregnancy or not is still not clear.



People who have developed Gaucher's disease in adulthood and people with mild cases of the disease have close to normal life expectancies. Usually, children don't live beyond the age of 2 years in case their illness has started during infancy. Children who have type 3 Gaucher's disease and live into their teens usually survive for many more years.

Expert's opinion

Expert's Name:
Specialty: -

Expert's opinion:

For Specialists

Clinical Trials:

Not available


Latest Drugs:




Forgot your password

sign up

Consultants Corner

Yaser Habrawi , F.R.C.S.Ed

Yaser Habrawi , F.R.C.S.Ed Consultant Ophthalmologist

Dr. Hani Najjar

Dr. Hani Najjar Pediatrics, Neurology

Dr. Samer Al-Jneidy

Dr. Samer Al-Jneidy Pediatrician

Dr. Faisal Dibsi

Dr. Faisal Dibsi Specialist of Otolaryngology - Head and Neck Surgery

Samir Moussa M.D.

Samir Moussa M.D. ENT Specialist

Dr. Talal Sabouni


Dr . Dirar Abboud

Dr . Dirar Abboud Hepatologist – Gastroenterologist

Dr. Tahsin Martini

Dr. Tahsin Martini Degree status: M.D. in Ophthalmology

Which of the following you are mostly interested in?

Cancer Research
Mental Health
Heart Disease & Diabetes
Sexual Health
Obesity and Healthy Diets
Mother & Child Health

Disclaimer : This site does not endorse or recommend any medical treatment, pharmaceuticals or brand names. More Details