OBJECTIVE: To evaluate the most frequent diagnostic errors in patients with Fabry disease and the types of specialists most often consulted before diagnosis. STUDY DESIGN: We evaluated 45 consecutive symptomatic patients with Fabry disease confirmed by enzymatic tests in males and genetic studies in females. We interviewed the patients, their mothers, or both regarding symptoms, age at onset, medical consultations, and recommended treatments. RESULTS: Neuropathic pain was the most frequent initial complaint, and rheumatic fever was the most common diagnosis. Seven patients were treated with penicillin for many years. Ten patients sought medical consultation because of abdominal pain and were diagnosed with food intoxication or nonspecific pain. Six patients sought consultation because of anhidrosis, considered of unclear cause, and angiokeratomas diagnosed as petechiae. Internists and pediatricians were the most frequently consulted specialists. The correct diagnosis was obtained after a mean of 19.7 years. CONCLUSIONS: Pediatricians as well as internists commonly misdiagnose Fabry disease. Neuropathic pain, hypohidrosis, and recurrent abdominal pain in childhood or adolescence should include Fabry disease in the differential diagnosis to facilitate earlier diagnosis and treatment of these patients.
OBJECTIVE: To evaluate the most frequent diagnostic errors in patients with Fabry disease and the types of specialists most often consulted before diagnosis. STUDY DESIGN: We evaluated 45 consecutive symptomatic patients with Fabry disease confirmed by enzymatic tests in males and genetic studies in females. We interviewed the patients, their mothers, or both regarding symptoms, age at onset, medical consultations, and recommended treatments. RESULTS:Neuropathic pain was the most frequent initial complaint, and rheumatic fever was the most common diagnosis. Seven patients were treated with penicillin for many years. Ten patients sought medical consultation because of abdominal pain and were diagnosed with food intoxication or nonspecific pain. Six patients sought consultation because of anhidrosis, considered of unclear cause, and angiokeratomas diagnosed as petechiae. Internists and pediatricians were the most frequently consulted specialists. The correct diagnosis was obtained after a mean of 19.7 years. CONCLUSIONS: Pediatricians as well as internists commonly misdiagnose Fabry disease. Neuropathic pain, hypohidrosis, and recurrent abdominal pain in childhood or adolescence should include Fabry disease in the differential diagnosis to facilitate earlier diagnosis and treatment of these patients.
Authors: Raffaele Manna; Roberto Cauda; Sandro Feriozzi; Giovanni Gambaro; Antonio Gasbarrini; Didier Lacombe; Avi Livneh; Alberto Martini; Huri Ozdogan; Antonio Pisani; Eleonora Riccio; Elena Verrecchia; Lorenzo Dagna Journal: Intern Emerg Med Date: 2017-07-19 Impact factor: 3.397
Authors: Kathrin Arning; Dennis Naleschinski; Rainer Maag; Marieke Biegstraaten; Peter Kropp; Jürgen Lorenzen; Carla E M Hollak; Ivo N van Schaik; Pontus Harten; Rainald A Zeuner; Andreas Binder; Ralf Baron Journal: J Neurol Date: 2012-08-10 Impact factor: 4.849
Authors: Giuseppe Cammarata; Pasquale Fatuzzo; Margherita Stefania Rodolico; Paolo Colomba; Luigi Sicurella; Francesco Iemolo; Carmela Zizzo; Riccardo Alessandro; Caterina Bartolotta; Giovanni Duro; Ines Monte Journal: Biomed Res Int Date: 2015-04-22 Impact factor: 3.411