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|
| DiseaseID |
HGD44 |
| Genetic
Disorder |
Fabry disease
|
| Gene
Name |
GLA gene |
| Description |
Fabry disease is one of several
genetically inherited diseases called
lysosomal storage disorders.Fabry disease is an inherited disorder
that results from the buildup of a
particular type of fat in the body's
cells. Beginning in childhood, this
buildup causes signs and symptoms that
affect many parts of the body. Character
istic features of Fabry disease include
episodes of pain, particularly in the
hands and feet (acroparesthesias);
clusters of small, dark red spots on
the skin called angiokeratomas; a
decreased ability to sweat (hypohidrosis
); cloudiness of the front part of the
eye (corneal opacity); and hearing loss
. Fabry disease also involves potentially
life-threatening complications such as
progressive kidney damage, heart attack,
and stroke. Milder forms of the disorder
may appear later in life and affect only
the heart or kidneys.
|
| Symptoms |
Because Fabry disease is rare, its symptoms are not always associated with the disease. There are, however, a number of signs and symptoms that are commonly experienced by people with Fabry disease. These may include:
Pain
Impaired sweating
Exercise intolerance
Skin rashes (angiokerotomas)
Corneal whorling
Gastrointestinal problems
Heart problems
Kidney problems
Nervous system problems
Psychological and social issues
|
| Causes |
Fabry disease is a type of lipid storage disease caused by a defect in the gene that controls an enzyme called alpha-galactosidase A (also known as ceramide trihexosidase). This enzyme is involved in the breakdown of certain lipids (fats).
The deficiency in this enzyme causes certain lipid molecules, called glycosphingolipids, to accumulate in the body's tissues, particularly the heart, kidneys, eyes and nerve tissue.
The gene that's altered is on the X chromosome, making its transmission X-linked. So boys have a 50 per cent chance of inheriting the disorder, while girls have a 50 per cent chance of becoming a carrier. The gene responsible can be detected. |
| Diagnosis |
Classic features of Fabry disease are painful attacks of burning pain predominantly in the upper and lower extremities, which occur in 80% to 90% of patients. In combination with hypohidrosis, heat intolerance, and characteristic angiokeratomas, these patients are highly susceptible for classic Fabry disease. Pathognomonic symptoms are corneal opacities (cornea verticillata) and typical conjunctival involvement. The presumptive diagnosis based on the symptoms above is supported by a positive family history. The clinical diagnosis must be confirmed by assay of -GAL A activity in leukocytes or plasma, and/or detection of GL3 deposition in tissue biopsies, and should be followed by a molecular genetic analysis. Taking pedigrees of newly diagnosed patients is worthwhile and may reveal more affected individuals.
|
| Treatment |
Treatment is by enzyme replacement. Twice weekly infusions of recombinant galactosidase A have been found to be safe and effective in clearing deposits from the kidney blood vessels, myocardium (heart muscle), and skin. |
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