Diagnosis and Screening of Patients with Fabry Disease

Ther Clin Risk Manag. 2020; 16: 551–558. Published online 2020 Jun 22. doi: 10.2147/TCRM.S247814

PMID: 32606714

Irfan Vardarli, Christoph Rischpler, Ken Herrmann, Frank Weidemann

Summary: The aim of this review was to provide an update on diagnosis and screening of patients with Fabry disease (FD).

Abstract

Objective: The aim of this review was to provide an update on diagnosis and screening of patients with Fabry disease (FD).

Results: Screening of high-risk populations (e.g., patients with unexplained left ventricular hypertrophy (LVH), young patients with unexplained stroke, and patients with unexplained renal failure proteinuria or microalbuminuria) provides strong outcomes for FD diagnosis. Gender-specific diagnostic algorithms are used. Initially α-Gal A activity measurement is recommended in males, and optionally in females. Genetic testing is used to validate the diagnosis in males with non-diagnostic residual activity (5–10 percent). In fact, neither males nor females can be diagnosed with FD without genetic testing. Important diagnostic biomarkers include globotriaosysphingosine (lyso-Gb3) for detecting atypical FD variants and high-sensitive troponin T (hsTNT) for detecting cardiac involvement.

Conclusion: FD is a rare, progressive multi-systemic disease with a reduced life expectancy. Therefore, early diagnosis of FD is critical for lowering morbidity and mortality, using diagnostic and screening procedures adapted to consensus guidelines.