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Misdiagnosis in Fabry disease
Cintia L Marchesoni1, Norma Roa, Ana María Pardal
1Neurology Department, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.
The Journal of Pediatrics
|April 14, 2010
Summary
Fabry disease is frequently misdiagnosed by internists and pediatricians, often after a 20-year delay. Early recognition of neuropathic pain, hypohidrosis, and abdominal pain is crucial for timely Fabry disease diagnosis.
Area of Science:
- Medical Diagnostics
- Rare Diseases
- Genetics
Background:
- Fabry disease is a rare genetic disorder.
- Diagnostic delays are common, leading to prolonged suffering.
- Misdiagnosis contributes to delayed treatment and poor outcomes.
Purpose of the Study:
- To identify common diagnostic errors in Fabry disease.
- To determine which specialists are most frequently consulted before diagnosis.
- To understand the typical patient journey leading to a Fabry disease diagnosis.
Main Methods:
- Study included 45 symptomatic patients with confirmed Fabry disease.
- Enzymatic tests in males and genetic studies in females were used for confirmation.
- Patient and family interviews gathered data on symptoms, consultations, and treatments.
Main Results:
- Neuropathic pain was the most frequent initial symptom.
- Rheumatic fever was a common misdiagnosis.
- Patients experienced an average diagnostic delay of 19.7 years.
Conclusions:
- Internists and pediatricians frequently misdiagnose Fabry disease.
- Fabry disease should be considered in the differential diagnosis for neuropathic pain, hypohidrosis, and recurrent abdominal pain.
- Earlier diagnosis can facilitate timely treatment and improve patient outcomes.
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