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Gaucher disease


ICD-10: E75.2A

ORPHA: 355

General information

Estimated occurrence
Very rare. Increased occurrence in certain geographical areas. In Sweden it is most common in Västerbotten and Norrbotten.

Gaucher disease is an inherited autosomal recessive disorder and is the most common lysosomal storage disease. A genetic defect in chromosome 1 (1q21) causes insufficient glucosylceramidase enzyme. This shortage of the enzyme causes a particular type of white blood cells (macrophages) to become saturated with glucosylceramide ("Gaucher cells") that can accumulate in various organs in the body.

General symptoms

Organs most likely to be affected are the bone marrow, spleen, liver, bones and, in some cases, the nervous system. The kidneys, lung and heart may also be affected, but less frequently. The disease can cause swelling of organs and reduced functioning, anaemia, low platelet counts and low numbers of white blood cells. The degree of severity and age of onset varies. Gaucher disease is divided clinically into three main groups, but the boundaries between the groups are fluid: 
Type 1: Most common form. Affects mainly adolescents and adults, and impacts on the spleen, liver and bones.
Type 2: Very rare. Affects infants. Neurological symptoms occur at 5-6 months of age. This form accelerates rapidly and survival is rare beyond infancy.
Type 3: "Norrbotten form". Adolescent form. Impacts on the blood and bones as in type 1, with varying degrees of progression. Neurological symptoms.

Orofacial/odontological symptoms

Increased risk of bleeding may occur with dental treatment. The jawbone may have an enlarged marrow section with a thinned, compact and "ragged" internal bone surface. Medication (bisphosphonates) for osteoporosis is currently being trialled in an attempt to prevent complications in the bones that may also have an impact on odontological treatment. In the case of neurological effects, there may be problems with chewing and swallowing.

Advice on follow-up and treatment

  • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential.
  • People treated with bisphosphonates should have regular dental check-ups and appropriate preventive care.
  • Consult the patient´s physician prior to dental treatment since there is a risk of bleeding in the case of tooth extractions, removal of plaque etc.
  • Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre.


Updated: 2019-11-12 14:45