FABRY DISEASE

Fabry disease (FD) is a genetic disorder related to mutations in the GAL gene on chromosome X, locus Xq22.1 with a pattern of X-linked recessive inheritance. This fact indicates the gravity differentiated by gender, making the male patients affected with the classic form of FD more seriously, with a reduced survival, hardly beyond the sixth decade of life. (1-2).  Diagnosis The diagnosis can be done by measuring the enzyme alpha-galactosidase or alpha-GAL (blood tests that measure the activity of the enzyme alpha-GAL) and mutation or genetic analysis (blood collection for DNA analysis). In men, this enzyme will almost always be low and in most cases the enzyme assay in leukocytes is enough in order to confirm the diagnosis. In women, the enzyme test can be normal, so it is necessary to perform the molecular test for the detection of mutations in the gene Gal to confirm the diagnosis. After an evaluation of the natural history of the FD established and suspected  presence of signs and symptoms, diagnostic confirmation by additional tests may be done as follows:

In male suspected patients:
Analysis of the enzyme alpha-Galactosidase A in the plasma
Analysis of the leukocyte enzyme alpha-Galactosidase A; more sensitive than the analysis of plasma.
Analysis of mutation in the alpha Gal gene, in men, is rarely needed. This test is restricted to  atypical cases where the enzymatic assessment is doubtful.

In female suspected patients:
Analysis of mutation in the alpha Gal; in women,  the enzyme assay (analysis of Alpha-Galactosidase A) may be normal, so the molecular test is considered mandatory to confirm the diagnosis, except in cases where the woman is  heterozygous, and the father is a known carrier of FD.

References

Craniofacial
Infiltrated face
Thorax
Chest discomfort
Genitourinary
Proteinuria 
Renal insufficiency
Cardiovascular
Acute myocardial infarction
Cardiovascular abnormalities
Conduction defects
Left ventricular hypertrophy - LVH
Palpitations
Skin
Angiokeratoma
Decrease or absence of sweating
Telangiectasis
Neurologic Abnormality
Burning sensation in hands
Cerebrovascular disease
Numbness or tingling in hands and feet
Ocular
Cornea verticillata
Upward or downward slanting palpebral fissures
Vascular Abnormality
Lymphedema
Feet
Burning sensation in feet
Hearing
Deafness
Gastrointestinal
Diarrhea
Intestinal cramps
Nausea
Metabolic Abnormality
Elevation of creatinine
General
Intolerance to exercise
Intolerance to heat and cold
Intolerance to temperature changes
Pain crises that spread through the body
Recurrent fever without apparent cause