title: Misdiagnosis in Fabry disease.
abstract: OBJECTIVE
  To evaluate the most frequent diagnostic errors in patients with Fabry disease and the types of specialists most often consulted before diagnosis.
  
  
  METHODS
  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.affiliation: Neurology Department, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.
authors.forename: Cintia L
authors.initials: CL
authors.lastname: Marchesoni
authors.forename: Norma
authors.initials: N
authors.lastname: Roa
authors.forename: Ana María
authors.initials: AM
authors.lastname: Pardal
authors.forename: Pablo
authors.initials: P
authors.lastname: Neumann
authors.forename: Guillermo
authors.initials: G
authors.lastname: Cáceres
authors.forename: Pablo
authors.initials: P
authors.lastname: Martínez
authors.forename: Isaac
authors.initials: I
authors.lastname: Kisinovsky
authors.forename: Silvia
authors.initials: S
authors.lastname: Bianchi
authors.forename: Ana Lía
authors.initials: AL
authors.lastname: Tarabuso
authors.forename: Ricardo C
authors.initials: RC
authors.lastname: Reisin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D000795:Fabry Disease / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D055815:Young Adult