To investigate the efficacy of family screening and potential barriers to testing of family members of patients with Fabry diseases (FD).
Material and methods
All patients with a definite diagnosis of FD verified by genetic testing were enrolled in the study. In each family, we identified an index patient and his relatives who could inherit a mutant gene.
We studed 66 probands with FD, including 58 males and 8 females. In 31 (46.9%) patients, diagnosis was established during a nationwide screening in the Russian hemodialysis units. All patients (except one 6-year old child) were adults older than 18 years of age. In total, we identified 488 alive relatives in 1 to 4 generations who could inherit mutant GLA gene. Genetic testing showed FD in 141 (48.3%) of 292 family members (including 28 children). Average number of FD patients per one proband was 2.2±0.3. Low communication between family members was the main barrier to testing.
Family screening in index patients with FD allowed to indentify on average two other patients with FD per one proband and to initiate enzyme replacement therapy at younger age.
Fabry disease, family screening, pedigree.