Table 2.

Proposed algorithm for Fabry Disease diagnosis.

In Patients with Suspected FD*
Gender	Step 1	Step 2	Confirmatory Test (if needed)†
Males	Measurement of α-Gal A activity in plasma or leukocytes	GLA gene mutation analysis	Measurement of lyso-Gb3 in plasma or urine; biopsy (heart, kidney, skin)
Females	GLA gene mutation analysis	-

FD: Fabry Disease; α-Gal A: alpha-galactosidase A; lyso-Gb3: globotriaosysphingosine.

* Suspicion of FD could be indicated by one of the following:

• presence of FD-characteristic signs, such as angiokeratoma or cornea verticillata.

• known or suspicious family history.

• otherwise unexplained hypertrophic cardiomyopathy or left ventricular hypertrophy.

• otherwise unexplained proteinuria or renal failure.

• otherwise unexplained stroke in young patients.

• otherwise unexplained small-fiber neuropathy.

† Confirmatory testing may be needed in suspected male and female FD patients when a genetic variant of unknown significance is detected by GLA gene mutation analysis.