SYMPTOMS OF THE FABRY DISEASE

Symptoms include :

-Pain


-Parathesia in the extremities (Paresthesia is an abnormal condition in which you feel a sensation of burning, numbness, tingling, itching or prickling. Paresthesia can also be described as a pins-and-needles or skin-crawling sensation. Paresthesia most often occurs in the extremities, such as the hands, feet, fingers, and toes, but it can occur in other parts of the body)



-Gastrointestinal disturbances (Gastrointestinal (GI) disturbances commonly include symptoms of stomach pain, heartburn, diarrhea, constipation, nausea and vomiting)

-Cardiomyopathy(It is a weakening of the heart muscle or another problem with the heart muscle. It often occurs when the heart cannot pump as well as it should, or with other heart function problems)



-Progressive renal impairment (Disorder characterized by the kidney's inability to filter wastes from the blood. It may be acute (occuring suddenly and usually reversable) or chronic (developing slowly over time as a result of permanent damage)



-Corneal(pertaining to the cornea)

Lenticular opacities(A cataract in which the opacity is confined to the lens.)



-Characterestic skin lesions called -Angiokeratomata

*These symptoms are all due to the deposition of G3b in the walls of small vessels, kidney tubule and glomeular cells, nerves and dorsal root ganglia. 

*The characteristic skin lesions of Fabry disease are the earliest signs that may lead to diagnosis in childhood. 

*Death usually occurs in early adulthood from renal and cardiac complications of the vascular disease.