Gaucher disease

Overview

What is Gaucher's disease?

Gaucher disease was first described by Dr. Phillippe Gaucher in 1882. Gaucher disease is a lysosomal storage disease involving a deficiency (lacking) of the enzyme glucocerebrosidase (GBA). Due to a faulty GBA gene, this enzyme deficiency leads to buildup (storage) of certain lipids (fats) called glucocerebrosides (GL1) in the spleen, liver, bone marrow, and other parts of the body. Symptoms of the disease may include enlargement of the spleen and liver (a big belly or abdomen), anemia, thrombocytopenia (low platelet counts), bone pain, and bone fragility.

Gaucher disease is one of the most common lysosomal storage disorders affecting ~1:40,000 to 60,000. Like other lysosomal storage disorders, there is a a wide spectrum of signs and symptoms including 3 different types of the disease described as type 1, the most common type of the disorder that does not affect the central nervous system; type 2 an acute, severe type of Gaucher disease and type 3 disease that is a characterized as a chronic form that does affect the central nervous system.

References
  • Gaucher disease. [Internet]. Medline Plus [updated October 22, 2019]. Available from: https://www.nlm.nih.gov/medlineplus/gaucherdisease.html
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More Overview Content

What is another name for glucocerebrosidase deficiency?

Do lots of people have Gaucher disease?

Who gets Gaucher disease most?

What are the different forms of Gaucher disease?

What happens when someone has type I Gaucher disease?

What symptoms are common in type II Gaucher disease?

What happens in type 3 Gaucher?

What is another name for glucocerebrosidase deficiency?

Some of the other names used for Gaucher disease include:

  • Gaucher splenomegaly
  • glucocerebrosidase deficiency
  • glucocerebrosidosis
  • glucosylceramidase deficiency
References
  • Genetics Home Reference [internet[] https://ghr.nlm.nih.gov/condition/gaucher-disease [updated September 2014]
Do lots of people have Gaucher disease?

Gaucher disease has an incidence of about 1/40,000 to 1/100,000, which includes all three types of Gaucher disease. It affects males and females equally. Type 1 Gaucher disease is estimated to affect ~1: 40,000 to 1:60,000 individuals. Patients of Ashkenazi ancestry have an increased incidence of type 1 Gaucher disease. It might surprise you to learn that type 1 Gaucher disease, not Tay-Sachs, is the most common Jewish genetic disease and ~1:15-18 are carriers for the disease.

References
  • Gaucher disease. [Internet]. Gene Reviews [updated May 14. 2015]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1269/
Who gets Gaucher disease most?

Although Gaucher disease can be seen in people from all backgrounds and ethnicities, it is more common in the Ashkenazi Jewish population. It is estimated that type 1 Gaucher disease affects about 1 in 855 individuals of Ashkenazi Jewish background. Approximately 1:18 persons of Ashkenazi ancestry are a carrier for Gaucher disease. Gaucher disease is also more commonly seen in the Spanish, Portuguese, Swedish, Greek, and Albanian population.

References
  • Gaucher disease. [Internet]. Gene Reviews [updated May 14. 2015]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1269/
What are the different forms of Gaucher disease?

Gaucher disease is classified into three types. Type 1 is the most common form of Gaucher disease, representing about 95% of Gaucher disease patients. It is the non-neuronopathic form of the condition. Type 2 Gaucher disease is the acute, neuronopathic form and is the most severe type. Type 3 Gaucher disease is the chronic, neuronopathic form of Gaucher disease. Neuronopathic is a term physicians use that describes 'affecting the brain'. When a patient is diagnosed with Gaucher disease, your doctor can tell by your genotype (the genes you inherit from your parents), if you have type 1 Gaucher disease by the presence of a certain variant (N370S). While there's very few absolutes in medicine, in the United States, this particular N370S variant pretty much determines that you have type 1 Gaucher disease.

References
  • Gaucher disease. [Internet]. Genetics Home Reference. [updated September 2014].Available http://ghr.nlm.nih.gov/condition/gaucher-disease
What happens when someone has type I Gaucher disease?

Age of onset and symptoms are variable in type 1 Gaucher disease; some affected individuals can present with signs of Gaucher in childhood, and others may be well into their later years or never become symptomatic at all. As a general rule, the younger the presentation, the more severe the disease. Symptoms of the disease may include enlargement of the spleen and liver (a big belly or abdomen), anemia (pale skin and easily tired), thrombocytopenia (low platelet counts causing easy bruising and bleeding) like nosebleeds, bone pain (resulting in bones that break and damage easily), and bone fragility (osteoporosis).

References
  • Gaucher disease type 1. [Internet]. Online Mendelian Inheritance in Man [updated March 28, 2013].Available from: http://omim.org/entry/230800.
What symptoms are common in type II Gaucher disease?

Type 2 Gaucher disease is the most severe of the three types of Gaucher disease. It involves severe neurological symptoms in newborn babies. Affected individuals have significantly shortened life span. Death usually occurs by age 2. Treatment is usually not effective with type 2 Gaucher disease.

References
  • Gaucher disease type 2. [Internet]. Online Mendelian Inheritance in Man [updated Feb 20, 2014].Available from: http://omim.org/entry/230900.
What happens in type 3 Gaucher?

In type 3 Gaucher disease, symptoms usually develop in childhood. They have all the symptoms of type 1 Gaucher disease; however, they also have neurological symptoms like seizures, ataxia (moving funny), and abnormal eye movements. Children with type 3 disease often blink excessively and have difficulty moving their eyes from side to side without thrusting their head to keep up with an object. Affected individuals can live into the 3rd or 4th decades of their lives.

References
  • Gaucher disease type 3. [Internet]. Online Mendelian Inheritance in Man [updated March 23, 2012].Available from: http://omim.org/entry/231000.

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