Balkan Journal of Medical Genetics

DIFFICULTIES IN DIAGNOSING FABRY DISEASE IN PATIENTS WITH UNEXPLAINED LEFT VENTRICULAR HYPERTROPHY (LVH): IS THE NOVEL GLA GENE MUTATION A PATHOGENIC MUTATION OR POLYMORPHISM?
Aladağ N, Ali Barman H, Şipal A, Akbulut T, Özdemir M, Ceylaner S
*Corresponding Author: Nesim Aladağ, MD, nesimaladag@hotmail.com, Van Yüzüncü yıl University, Faculty of Medicine, Department of Cardiology, Van, Turkey. Phone: +90 544 961 31 69 / Fax: +90 432 486 54 07
page: 43

CONCLUSION

In conclusion, early diagnosis is of vital importance in FD, which can be treated with enzyme replacement. Patients over 30 years of age with idiopathic LVH should be screened for FD because a patient with unexplained LVH is part of a high-risk group that has a high incidence of FD. In screening studies, clinical evaluation of organ involvement as well as enzyme and lyso-Gb3 levels are required to show whether the newly detected mutations are true pathogenetic mutations or polymorphisms. Identifying new polymorphisms is important to know the true mutations in FD. Limitations A key limitation of this study is the comparatively small number of study participants. Another limitation of this study is the fact that cardiac MRI and biopsy were not performed on the patients with gene mutations. As such, the diagnoses of FD in these patients are not definitively established.

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