Diagnosing Fabry disease

Fabry disease is a multi-system disorder, involving many different organ systems within the body. Therefore, patients generally see several specialists before getting a diagnosis. Diagnosis may require collaboration and communication between geneticists, genetic counselors, nephrologists, neurologists, pediatricians, dermatologists, cardiologists, ophthalmologists, gastroenterologists, endocrinologists and internists. Additionally, because of the progressive nature of Fabry disease, early diagnosis is important to enable appropriate interventions and attempt to prevent irreversible organ and function disability.

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Find a selection of resources on Fabry disease.