Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective


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EZGÜ F. S. , ALPSOY E., Bicik Bahcebasi Z., Kasapcopur O., PALAMAR ONAY M., Onay H., ...More

ORPHANET JOURNAL OF RARE DISEASES, vol.17, no.1, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 17 Issue: 1
  • Publication Date: 2022
  • Doi Number: 10.1186/s13023-022-02215-x
  • Journal Name: ORPHANET JOURNAL OF RARE DISEASES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals
  • Keywords: Fabry disease, Expert panel, Awareness, Screening, Diagnosis, Pathogenic variants, Heterogeneity, Management, Multidisciplinary approach, ENZYME-REPLACEMENT THERAPY, HUMAN ALPHA-GALACTOSIDASE, NATURAL-HISTORY DATA, CLINICAL-MANIFESTATIONS, CARDIAC MANIFESTATIONS, UNCERTAIN DIAGNOSIS, CORNEA VERTICILLATA, NEUROPATHIC PAIN, RENAL-DISEASE, INVOLVEMENT
  • Gazi University Affiliated: Yes

Abstract

This consensus statement by a panel of Fabry experts aimed to identify areas of consensus on conceptual, clinical and therapeutic aspects of Fabry disease (FD) and to provide guidance to healthcare providers on best practice in the management of pediatric and adult patients with FD. This consensus statement indicated the clinical heterogeneity of FD as well as a large number of pathogenic variants in the GLA gene, emphasizing a need for an individualized approach to patient care. The experts reached consensus on the critical role of a high index of suspicion in symptomatic patients and screening of certain at-risk groups to reveal timely and accurate diagnosis of FD along with an increased awareness of the treating physician about the different kinds of pathogenic variants and their clinical implications. The experts emphasized the crucial role of timely recognition of FD with minimal delay from symptom onset to definite diagnosis in better management of FD patients, given the likelihood of changing the disease's natural history, improving the patients' quality of life and the prognosis after enzyme replacement therapy (ERT) administered through a coordinated, multidisciplinary care approach. In this regard, this consensus document is expected to increase awareness among physicians about unique characteristics of FD to assist clinicians in recognizing FD with a well-established clinical suspicion consistent with pathogenic variants and gender-based heterogeneous clinical manifestations of FD and in translating this information into their clinical practice for best practice in the management of patients with FD.