A long road to diagnosis
In a study based upon the Fabry Registry, due to the nonspecific and heterogeneous nature of early symptoms in Fabry disease, diagnostic delays and misdiagnosis were common.
Fabry disease is often misdiagnosed and confused with rheumatoid or juvenile arthritis, rheumatic fever, erythromelalgia, Raynaud’s syndrome, neurosis, lupus, acute appendicitis, or multiple sclerosis. Pain, particularly in children, can be dismissed as malingering.
Connecting seemingly unrelated symptoms to Fabry disease can help avoid diagnostic delays and help patients receive disease management sooner.
Importance of Screening for Fabry Disease in High-Risk Populations.
Although Fabry is considered a rare disease, the prevalence of Fabry disease in patients with certain disorders, such as unexplained chronic kidney disease and hypertrophic cardiomyopathy, may be higher than in the general population.[3,4] Consequently, it is important to screen patients with these conditions for Fabry disease.