If a patient with Fabry Disease (FD) is detected early then specific enzyme therapy can be given that will prevent end-organ damage and prolong life. Recognition of the characteristic neuropathy can be helpful in making an early diagnosis of the disease.


The neuropathy in FD primarily affects small nerve fibers while the function of large fibers is preserved.


Features of the neuropathy in Fabry Disease:

(1) It shows X-linked inheritance so usually affects males.

(2) The onset of the neuropathy is usually during childhood or adolescence.

(3) The patient complains of burning pain in the feet and sometimes the hands.

(4) There is severe impairment of thermal perception.

(5) Vibratory and mechanical discrimination is normal or only mildly affected.

(6) There is no other alternative explanation that can explain the findings better.


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