Gaucher's Disease or Glucosylceramidase Deficiency

Gaucher's disease is also known as Glucosylceramidase deficiency and Glucocerebrosidase deficiency.

Gaucher's Disease or Glucosylceramidase Deficiency

Gaucher's disease is a rare genetic disorder. Gaucher's disease is a condition in which glucocerebroside is formed in the bones, lungs, liver, and spleen; however brain may also get affected in some rare cases. The formation of glucocerebroside restricts the organs to function properly.

Gaucher's disease is a condition in which some harmful fatty material builds up to excessive levels in lungs, bone marrow, liver, spleen and, less frequently brain. The accumulation of these fatty substances in tissues affects the functioning of the body resulting in enlargement of organ and pain in the bones.

Gaucher's disease is a condition which occurs due to deficiency of the enzyme glucocerebrosidase that forces the body to form some harmful fatty substance called glucocerebroside. Therefore this disease sometimes is also known as glucocerebrosidase deficiency.

Gaucher's disease may be treated with enzyme replacement and other therapies.

Symptoms of Gaucher's disease worsen during pregnancy. However despite this, most of the affected women will have a successful pregnancy. It is not clear though whether enzyme replacement therapy is advisable during pregnancy.

Types of Gaucher's Disease or Glucosylceramidase Deficiency

Gaucher's Disease or Glucosylceramidase Deficiency Is Broadly Classified Into Three Types:

  • Type 1 Gaucher's Disease or Glucosylceramidase Deficiency: Type 1 Gaucher's disease is very mild in nature. Although type 1 Gaucher's disease may affect at any age, but adults more commonly get affected with Gaucher's disease. Type 1 Gaucher's disease usually results in bone pain, broken bones and enlargement of spleen and liver. Kidney and lung problems may also occur in few of the cases. Brain is not involved in Gaucher's disease.
  • Type 2 Gaucher's Disease or Glucosylceramidase Deficiency: Type 2 Gaucher's disease is rare in nature. Type 2 Gaucher's disease usually begins in the first year of the life with gradual development in three months. Type 2 Gaucher's disease usually affects infants. Type 2 Gaucher's disease damages the brain severely resulting in the death of a child by the age of 2 years.
  • Type 3 Gaucher's Disease or Glucosylceramidase Deficiency: Type 3 Gaucher's disease is also a very rare type of Gaucher's disease. Type 3 Gaucher's disease begins either in childhood or in adolescence. Type 3 Gaucher's disease usually results in enlargement of spleen and liver. Mild involvement of brain is also seen in type 3 Gaucher's disease. Type 3 is more chronic of all the types.

Epidemiology of Gaucher's Disease or Glucosylceramidase Deficiency

In general population, the count of people being affected with Gaucher's disease is estimated to be 1 in 50,000 to 1 in 100,000 individuals. Gaucher's disease may affect at any age. Gaucher's disease is frequently seen in Jewish people of Central and Eastern European descent.

In United States, Gaucher's disease is more commonly seen in Jewish people of Eastern European origin. The frequency rate of carrier of Gaucher's disease in these people is about 1 per 15 population and disease frequency is about 1 per 855 population. Gaucher's disease is very rarely seen in the non-Jewish population. The estimated frequency rate of Gaucher's disease in non-Jewish population is about 1 per 40,000 population.

90 percent of cases are recorder as type 1 Gaucher's disease. Type 1 Gaucher's disease is usually diagnosed at the age of 30.

Causes and Risk Factors of Gaucher's Disease or Glucosylceramidase Deficiency

Gaucher's disease is usually caused due to the deficiency of enzyme glucocerebrosidase. Enzyme glucocerebrosidase helps in breaking down the fatty material known as glucocerebrosides. Scarcity of these enzymes results in the formation of fatty materials in bone marrow, brain and other organs.

Gaucher's disease is an inherited disease, which passes on to the child if both the parents are carrier of Gaucher's gene. This pattern of inheritance is known as autosomal recessive. Although a child develops Gaucher's disease only when both the parents are carriers of a Gaucher's gene, there are very less children found to suffer with Gaucher's disease. In case of both the parents being carriers of the Gaucher's gene, there are only 25 percent chances in a child to develop Gaucher's disease.

Signs and Symptoms of Gaucher's Disease or Glucosylceramidase Deficiency

Symptoms of Gaucher's disease vary based on different types.

Symptoms of Type 1 Gaucher's Disease or Glucosylceramidase Deficiency May Include:

  • Skeletal abnormalities.
  • Osteopenia.
  • Bone pain.
  • Bone fractures.
  • Enlarged spleen and liver.
  • Anemia.
  • Excessive fatigue.
  • Thrombocytopenia.
  • Yellow spots in eyes.
  • Delayed puberty.
  • Nosebleeds.

Symptoms of Type 2 Gaucher's Disease or Glucosylceramidase Deficiency May Include:

  • Brain problems like dementia and mental retardation.
  • Rigidity.
  • Seizures.

Symptoms of Type 3 Gaucher's Disease or Glucosylceramidase Deficiency May Include:

  • Loss of muscle coordination.
  • Brain problems like dementia and mental retardation.
  • Abnormal eye movements.

Treatment for Gaucher's Disease or Glucosylceramidase Deficiency

There is no proper cure available for the treatment of type 2 Gaucher's disease. Patients suffering with type 1 Gaucher's disease may not need to be treated due to just mild symptoms.

Given Below Are The Treatments And Procedures That Are Usually Used To Treat Type 1 And Type 3 Gaucher's Disease or Glucosylceramidase Deficiency:

  • Enzyme Replacement Therapy: Enzyme replacement therapy is performed by replacing the deficient enzyme with artificial enzymes. The enzyme replacement therapy is done intravenously with high doses at every two week intervals. Enzyme replacement therapy is usually performed to treat type 1 and type 3 Gaucher's disease. Enzyme replacement therapy not only helps in reducing enlargement of the spleen, but also improves bone density and resolves abnormalities of blood. However enzyme replacement therapy is not yet found to be effective in treating neurological problems of Gaucher's disease. In some cases, patients may also experience hypersensitivity and allergic reaction to enzyme treatment.
  • Bone Marrow Transplantation: Bone marrow transplantation is a surgical procedure which is usually performed in very severe cases of Gaucher's disease. Bone marrow transplantation involves removing and replacing the damaged blood-forming cells in order to reverse signs and symptoms of Gaucher's disease. Bone marrow transplantation is a procedure that is performed rarely as this is very risky in nature.
  • Medication: Medications may include oral medications such as miglustat for treating Gaucher's disease. This medication usually interferes with the production of glucocerebrosides in type 1 Gaucher's disease. Side effects may include weight loss and diarrhea. However sperm production may also get affected and therefore miglustat is usually used in combination with contraception that should be continued even three months after stopping the medicine.

Investigations for Gaucher's Disease or Glucosylceramidase Deficiency

A complete subjective and physical examination is performed to diagnose Gaucher's disease. Signs like hearing loss, heart problems, eye movement problems, bone changes, lung disease and swelling in spleen or liver may be seen.

Tests For Diagnosing Gaucher's Disease May Include:

  • Blood test.
  • Bone marrow aspiration.
  • Spleen biopsy.
  • MRI.
  • CT.
  • X-ray of the skeleton.
  • Genetic testing.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: August 19, 2015

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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