Analysis index

6 ml EDTA-blood

Dispatch on the same day

14,0 nmol/h/mg – 72,6 nmol/h/mg

Suspicion of Fabry’s disease

Fabry’s disease is a sphingolipid storage disorder, caused by alpha galactosidase deficiency.  Incidence is 1:40.000, pattern of inheritance is technically X-chromosomal recessive, however due to accidental X-inactivation in individual cells, women may also be affected, however usually with a milder course of illness. Painful neuropathy (palms, soles, “appendicitis”, “renal colic”) in young men, furthermore angiokeratoma (trunk, perineal region) and hypohidrosis.  Life expectancy in untreated patients is limited (on average 55 years in men and 70 years in women). Limiting factors are mainly nephrological and cardiovascular complications (progressive kidney failure, cardiomyopathy arrhythmia, cerebral seizure). In men, the evaluation of alpha galactosidase in leukocytes is decisive in diagnostics (enzyme activity usually < 1 % of the norm). In up to one third of women however, normal enzyme activity is seen, hence why sequencing of the GLA gene is definitely required.

Medizinisches Labor Bremen