Fabry's disease is also known as hereditary dystopic lipidosis, GLA deficiency and alpha-galactosidase A deficiency.
Fabry's disease is a rare genetic disorder which comes from the family of hereditary diseases known as lysosomal storage disorders. Fabry's disease leads to an alteration in the normal processing of certain important chemicals in the body.
Lysosomal storage disorder is a condition in which lysosomes have trouble break down certain complex fatty molecules due to which lysosomes get filled up with undigested molecules resulting in impairment of the cell's functional ability.
Fabry's Disease or Hereditary Dystopic Lipidosis is a condition in which cells store up fatty substance known as globotriaosylceramide (GL-3) in the cardiovascular system, kidneys, autonomic nervous system, and eyes. Eventually due to excessive building up of GL-3 in some type of cells, damage of tissues all over the body begins. Fabry's disease is an X-linked lipid storage disease which means males primarily get affected with this disorder. However, cases of women getting affected with Fabry's disease are also seen where the patient may suffer with mild to severe symptoms.
Epidemiology of Fabry's Disease or Hereditary Dystopic Lipidosis
Fabry's Disease or Hereditary Dystopic Lipidosis is a very rare disorder. Only 1 in 117,000 individuals may get affected. Fabry's disease usually affects one in 40,000 to 60,000 male population. Females are less commonly affected with Fabry's disease. Fabry's disease could also be seen in many racial groups.
Causes and Risk Factors of Fabry's Disease or Hereditary Dystopic Lipidosis
Fabry's Disease or Hereditary Dystopic Lipidosis is caused by the deficiency of enzyme needed to metabolize lipids or can also be caused due to faulty enzyme that is needed to metabolize lipids, fat-like material such as waxes, fatty acids, and oils. The alpha-galactosidase-A or ceramide trihexosidase enzyme controlled by gene mutation usually results in breaking down of lipids that build up harmful levels in the autonomic nervous system, cardiovascular system, eyes, and kidneys. Storage of lipids may result in impairment of arterial circulation and increase the risk of stroke and heart attack. Heart enlargement and progressive involvement of kidneys may also result in due course.
Signs and Symptoms of Fabry's Disease or Hereditary Dystopic Lipidosis
Few women carrying the genetic mutation may also suffer with symptoms of Fabry's disease.
Generally symptoms of Fabry's Disease or Hereditary Dystopic Lipidosis may begin either in the childhood or in adolescence. Symptoms may include:
- Burning sensation in the hands that may become worse with hot weather and exercise.
- Small reddish-purple raised blemishes may be seen on the skin.
- Manifestation of eye conditions, especially cloudiness of the cornea, is also experienced by some boys suffering with Fabry's disease.
Other Symptoms for Fabry's Disease or Hereditary Dystopic Lipidosis May Include:
- Decreased sweating.
- Gastrointestinal difficulties, specifically after food intake.
Treatment for Fabry's Disease or Hereditary Dystopic Lipidosis
Enzyme replacement may be helpful in slowing down the progression of Fabry's disease. Anticonvulsants like carbamazepine and phenytoin are usually prescribed to control the pain in the hands and feet due to this disease. Metoclopramide is a commonly used drug for treating gastrointestinal hyperactivity. Kidney transplantation and dialysis may also be required in some cases where kidneys are involved.
Investigations for Fabry's Disease or Hereditary Dystopic Lipidosis
Review of family history and a thorough subjective and physical examination needs to be performed looking for specific symptoms implicating Fabry's disease.
Laboratory Testing Helpful In Diagnosing Fabry's Disease or Hereditary Dystopic Lipidosis May Include:
- Urine microscopy to look for lipid-laden epithelial cells.
- Serum electrolytes to look for imbalance that may implicate renal failure.
- Plasma enzyme analysis or leukocyte analysis to check for deficiency in the levels of alpha-galactosidase A.
Other Helpful Investigations for Fabry's Disease or Hereditary Dystopic Lipidosis Include: