Fabry Disease - Medtick
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Fabry Disease

What is it?

An  autosomal recessive disorder genetic condition where the enzyme called alpha-galactosidase A, is deficient or one does not have the ability to make it or  its not working as it should.

  • These enzymes in our body cells (the part of the body cell is called lysosome) to clean up and dispose of a fatty substance called globotriaosylceramide in the body  that the body is otherwise unable to break down.
  • If our body cells has too much of  this fatty substance theses cells begin to build up take over normal body cells functions causing symptoms.
  • Other terms to describe this conditions are:
    • Alpha-galactosidase A deficiency
    • Anderson-Fabry disease
    • Angiokeratoma corporis diffusum
    • Diffuse angiokeratoma
    • Ceramide trihexosidase deficiency
    • GLA deficiency
  • If enzyme still functions part-time, or with activity that is about 30% of normal these forms are known as “atypical Fabry disease,” or “later-onset Fabry disease”
  • Males are more often severely affected than females (because this condition is passed through the x- chromosome), however females can also be affected because normal x- chromosome   can be inactivated in random body cells.

Cause

  • Unknown
  • Pass down through X-linked chromosomes – the mutated, or defective, gene is located on the X chromosome.
  • The X and Y chromosomes are probably best known for their role in determining a baby’s gender as male or female. Females have two X chromosomes while males have one X chromosome and one Y chromosome. However, the X and Y chromosomes have many other genes on them in addition to those that determine the sex of a child. In the case of Fabry disease, the X chromosome carries the defective gene which encodes the enzyme, alpha-Gal A.

  • Men with Fabry disease pass their X chromosome to all of their daughters such that all daughters of affected men will carry the gene for Fabry disease. Affected men do not pass the Fabry disease gene to any of their sons, because sons, by definition, receive their father’s Y chromosome and cannot inherit Fabry disease from their father.

  • When a woman with the Fabry gene has a child, there is a 50:50 chance she will pass her normal X chromosome to the child. There is also a 50% chance that each child born to a woman with the Fabry gene will inherit the affected X chromosome and have the Fabry gene. Fabry disease is believed to affect about one in 40,000-60,000 males, while in females, the prevalence is unknown.

verywellHealth 

Symptoms

Childhood/Pre-teen to Teen Years:

  • Pain, numbness, or burning of the hands or feet?
  • Telangiectasias, or “spider veins,” on ears or eyes?
  • Small, dark spots on the skin (angiokeratoma), often between the hips and the knees?
  • Gastrointestinal problems that mimic irritable bowel syndrome, with abdominal pain, cramping, and frequent bowel movements?
  • Clouding of the cornea of the eye, or corneal dystrophy, that is detectable by an ophthalmologist and generally does not impair vision?
  • Puffy upper eyelids?
  • Heat intolerance (dislike to heat)?
  • Decreased ability to sweat?
  • Diarrhea?
  • Foamy urine?
  • Raynaud phenomenon?

Young Adulthood:

  • Bigger telangiectasias?
  • More angiokeratomas, or small dark spots on the skin?
  • Decreased ability to sweat and difficulty regulating body temperature?
  • Lymphoedema, or swelling in the feet and legs?

Adulthood, Mid-life, and Beyond:

Other symptoms:

  • Balance and dizziness problems (vertigo)?
  • Tinnitus?
  • Short of breath and/or breathing problems?
  • Dry cough longer than three weeks (leading to scarring of the lungs tissue)?
  • Osteoporosis?
  • Irritated, depressed, anxiety and/or panic attacks?
  • General discomfort (muscle weakness), uneasiness or ill feeling (malaise) and/or fatigue (tiredness)?

Complications /Information to beware of/General tips:

Medical Emergency Condition

And/or do not wait, phone for an ambulance if have or develop:

This condition can lead to:

In females this condition may show similar symptoms to:

This condition can may show similar symptoms to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

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