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

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.

Clinical features and enzyme replacement therapy in 10 children with Fabry disease

“…With the progression of chronic kidney disease (CKD), albuminuria and massive albuminuria will occur in patients at 20 years of age. Additionally, the severity of renal pathology will increase, and chronic renal impairment will gradually occur and finally develop into ESRD from 30 to 50 years old (18). In this study, 2 cases had renal involvement.…”

Fabry disease – what a gastroenterologist should know

“…Although Fabry disease is rare, gastrointestinal symptoms are common in affected patients. An average patient sees at least 10 specialists [ 37 ] before receiving a diagnosis; therefore, it is important to remember this entity, especially in complex patients. The treatment consists of disease-specific therapy, which should be provided by centres with expertise, but also optimal supportive care, which is especially important in controlling gastrointestinal symptoms.…”

The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye

“…Fabry disease is a rare lysosomal storage disorder caused by mutations in the GLA gene resulting in deficiency of the enzymatic activity of α-galactosidase A and the lysosomal accumulation of globotriaosylceramide and other related glycosphingolipids which ultimately leads to multiorgan damage. 9 - 11 It is the most common metabolic disorder in adults with HCM and its prevalence is around 0.5%-1% in patients older than 35-40 years. 12 Phenotypes of FD vary from the classic pediatric-onset phenotype with multiorgan involvement to later-onset phenotypes with manifestations that may be confined to the heart.…”