Gaucher’s Disease – Types & Symptoms

Gaucher’s disease is a very rare and heredofamilial genetic disease in which there is a harmful fatty substance accumulation in the organs typically the bones, lungs, marrow, liver, spleen and less commonly, the brain. Such accumulation usually interferes with the normal functioning of the said organs and leads to enlargement of these organs and pain in the bones.

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This disease in caused by the deficiency of the enzyme known as glucocerebrosidase. This enzyme helps in the digestion and metabolism of the fatty substance glucocerebroside. This disease is sometimes known as the glucocerebroside deficiency.

It affects all people regardless of age yet occurs more predominantly in those of Jewish descent from Central and Eastern Europe for Type 1 and Type 3. For Type 2, it is more common to those with Swedish descent.

Types and Corresponding Symptoms

Type 1:

This is the most common of all types accounting to 90% of all cases and the one, which considered the mildest. It usually affects all the abovementioned organs except the brain and most prevalent in with adults averaging in the age of 30. However, this also occurs in all age brackets. Symptoms of this type include:

Bone pain, bone fracture, thinning of the bones and other skeletal abnormalities
Hepatomegaly (enlargement of the liver) or Splenomegaly (enlargement of the spleen) or both
Anemia
Easy bruising owing to low platelet count
Easy fatigability
Yellow spots in the eyes
Puberty delays
Epistaxis or easy nosebleeds

Type 2:

This is the most severe type although very rare. It affects infants as young as one year old. The progression is rapid that happens in as fast as 3 months. These cases often lead to severe mental deterioration due to extensive brain damage. The symptoms are similar as that of the first type with additional manifestations such as:

Cognitive deterioration like mental retardation
Rigidity
Seizures

Type 3:

This category is also very rare yet its symptoms are not as severe as those of the second type are. It typically starts during childhood and adolescence and progresses rather slowly. Typical symptoms as in type 1 are present, however, manifestations that are seen almost exclusively on type 3 patients are: