What is Fabry Disease?
Fabry Disease syndrome occurs mainly in males and is the result of mutations in the genes that produce the enzyme alpha-galactosidase A.
The disease is considered a multi-system, progressive disorder and a lysosomal storage disease.
What gene change causes Fabry Disease?
The syndrome is the result of a defective GLA gene, responsible for producing the enzyme alpha-galactosidase A.
This enzyme is responsible for breaking down the fat GB3/GL-3. Without this enzyme, the fat builds up in the body and triggers Fabry syndrome and its symptoms.
As an X-linked genetic disorder, the syndrome is more common in males than females.
What are the main symptoms of Fabry Disease?
The main symptoms of the syndrome include episodic pain, dark red spots on the skin, and an inability to sweat effectively.
Individuals with the syndrome experience kidney and heart issues also. Clouding of the corneas is also not uncommon.
Other health conditions associated with the syndrome include gastrointestinal issues and joint pain, as well as an inability to gain weight and a higher risk for stroke.
Possible clinical traits/features:
Vertigo, Transient ischemic attack, X-linked recessive inheritance, Reduced bone mineral density, Thick lower lip vermilion, Telangiectasia of the skin, Tenesmus, Juvenile onset, Vomiting, Respiratory failure, Sensorineural hearing impairment, Optic atrophy, Seizure, Renal insufficiency, Proteinuria, Paresthesia, Dysautonomia, Fasciculations, Delayed puberty, Coronary artery atherosclerosis, Corneal dystrophy, Anemia, Coarse facial features, Conjunctival telangiectasia, Congestive heart failure, Emphysema, Diarrhea, Diabetes insipidus, Developmental regression, Nephrotic syndrome, Malabsorption, Opacification of the corneal stroma, Short stature, Hematuria, Muscle spasm, Hypohidrosis, Cognitive impairment, Glomerulopathy, Hypertension, Hyperkeratosis, Hypertrophic cardiomyopathy, Angiokeratoma, Angina pectoris, Anorexia, Chronic pulmonary obstruction, Cerebral ischemia, Arthritis, Arthralgia, Abnormality of femur morphology, Abnormal renal tubule morphology, Abnormal mitral valve morphology, Behavioral abnormarlities.
How is it diagnosed?
To find out if someone has a diagnosis of Fabry Disease, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
