GAUCHER HORMONE DEFICIENCY DIAGNOSIS, TREATMENT AND CAUSES

A Rare Disease that Comes in Three Forms, Each With a Different Prognosis

Gaucher disease is a rare, inherited disease in which fatty deposits accumulate in critical organs and body systems, damaging them. It is caused by genetic mutations received from both parents.1

Disease Education Information

What Is Gaucher Disease?

Gaucher disease is a form of lysosomal storage disease,2 a condition where people do not produce enough of an enzyme called glucocerebrosidase, which breaks down glucocerebroside, a fatty substance found in cells.1 Without sufficient enzyme, the fatty substance builds up in some cells and enlarges them. These enlarged cells are called Gaucher cells.3

Over time, Gaucher cells collect in the liver, spleen, lungs, and bone marrow, damaging them until the organs can no longer work the way they should.1,4 The bone-related damage can be especially painful and may eventually limit a person’s mobility.5 In rare cases, Gaucher cells can also collect in the brain and result in a more severe form of the disease.4

There are three different types of Gaucher disease.

  • Type 1 Gaucher disease is the most common form in the Western world and accounts for more than 95% of cases of Gaucher disease. The signs and symptoms of Type 1 can begin at any age, and usually include anemia, bruising, bleeding, abdominal pain (caused by an increase in spleen and liver size), bone pain, and growth problems.6 People with Type 1 Gaucher disease can often expect to have a normal life span.7 It occurs worldwide in all populations, but is most prevalent in the Ashkenazi Jewish population6
  • Type 2 Gaucher disease is characterized by abnormalities of the central nervous system and is usually fatal during the first one to three years of life. It affects people worldwide, but is very rare4
  • Type 3 Gaucher disease is very rare in the West, but more common in Asia8 and the Norrbotten region of Sweden.6 In this type of Gaucher disease, the neurologic symptoms progress slowly. Symptoms usually develop in childhood and continue through adulthood8

Standard treatment can help with some of the non-neurologic symptoms of the disease, especially for people who receive a diagnosis and begin treatment early.4

Who Gets Gaucher Disease and How?

About one in 50,000-100,000 people worldwide have Type 1 Gaucher disease. It can affect people of any ethnicity but is more common in people of Ashkenazi Jewish heritage, affecting an estimated one in 850 individuals.9

Gaucher disease results when a child receives an abnormal gene from both parents. If a person inherits only one of these abnormal genes, he or she is considered a carrier who does not have the disease but can pass the gene on to the next generation.1

What are the Symptoms of Gaucher Disease?

Signs and symptoms of Gaucher vary from one person to another. Some people have very mild symptoms and live with them for years before being diagnosed with the disease. Others have more severe symptoms, which include:4

  • Low hemoglobin (anemia)
  • Low platelet count
  • Enlarged liver
  • Enlarged spleen
  • Bone pain
  • Bone disease
  • Fatigue
  • Easy bruising

Less common signs and symptoms include:4

  • Heart and lung problems
  • Cognitive impairment
  • Seizure
  • Dementia

How is Gaucher Disease Diagnosed?

The condition is currently diagnosed by a blood test that measures glucocerebrosidase enzyme activity. For people with a known family history of Gaucher disease, a diagnosis can be confirmed with genetic testing.4

Carrier testing can also be done for individuals who have a family history of the disease. If the child’s mother and father are both carriers, there is a 25% chance that each child will be affected by Gaucher disease and a 50% chance that the child will be a carrier.4

Genetic counseling is recommended for prospective parents with a family history of Gaucher disease, and prenatal testing can also determine whether a fetus in the womb has Gaucher disease.4

Can Gaucher Disease be Treated?

Although there is currently no cure for Gaucher disease, treatment can help people manage some of the symptoms of the disease. Enzyme replacement therapy can be used in patients with Types 1 and 3 Gaucher disease.4

There are no effective treatments yet for the neurologic manifestations of Types 2 and 3 Gaucher disease, and for severe brain involvement.4

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References:
 

1. NIH National Human Genome Research Institute. About Gaucher Disease. https://www.genome.gov/Genetic-Disorders/Gaucher-Disease. Accessed February 10, 2020.

2. National Gaucher Foundation. Lysomal Storage Disease & Disorder. https://www.gaucherdisease.org/about-gaucher-disease/what-is/lysosomal-…. Accessed February 10, 2020.

3. National Gaucher Foundation. What is Gaucher Disease? https://www.gaucherdisease.org/about-gaucher-disease/what-is/. Accessed February 10, 2020.

4. National Organization of Rare Disorders. Gaucher Disease. https://rarediseases.org/rare-diseases/gaucher-disease/. Accessed February 10, 2020.

5. Linari S, Castaman G. Clinical Manifestations and Management of Gaucher Disease. Clin Cases Miner Bone Metab. 2015;12(2):157-164.

6. Martins AM, et al. Recommendations on Diagnosis, Treatment, and Monitoring for Gaucher Disease. J Pediatr. 2009;155(4):S10-S18.

7. Weinreb N, et al. Life Expectancy in Gaucher Disease Type 1. Am J Hematol. 2008;83(12):896-900.

8. Schwartz IVD, et al. Characteristics of 26 Patients with Type 3 Gaucher Disease: A Descriptive Analysis from the Gaucher Outcome Survey. Mol Genet Metab Rep. 2018;14:73-79.

9. Mistry P, et al. Consensus Conference: A Reappraisal of Gaucher Disease – Diagnosis and Disease Management Algorithms. Am J Hematol. 2011;86(1):110-115.