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Researchers Find CFI Deficiency Alarmingly High in Old Order Amish
Complement factor I deficiency affects about 1 in 730 Old Order Amish, over 4,500 times more common than globally, enabling targeted treatments to improve patient outcomes, researchers say.
- Researchers at the Children’s Hospital of Philadelphia and the Clinic for Special Children found that complement factor I disorder is much more prevalent in Old Order Amish individuals than in the general population.
- When an Old Order Amish patient presented with neuroinflammatory symptoms at CHOP, researchers launched a population study to assess prevalence, finding the disorder is much more common in the Amish community.
- Researchers found that the prevalence of a rare neuroinflammatory genetic disorder is significantly higher in the Old Order Amish, with up to 1 in 730 affected compared to fewer than one in a million globally.
- Clinicians could now better recognize CFI deficiency and develop a standard-of-care for Amish patients, recommending testing and targeted treatments like eculizumab.
- With enriched knowledge of disease prevalence, strategies now emphasize personalized treatment plans, helping patients recover and resume active community roles, according to Whitney Reid, MD.
28 Articles
28 Articles
Researchers find CFI deficiency alarmingly high in old order Amish
Researchers from Children's Hospital of Philadelphia (CHOP) and the Clinic for Special Children found that complement factor I (CFI) deficiency, an ultra-rare genetic disorder that can cause debilitating neuroinflammation, is more than 4500 times more likely to be found in individuals of Old Order Amish ancestry than the rest of the global population.
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Children's Hospital of Philadelphia, Clinic for Special Children Discover Ultra Rare Form of Neuroinflammatory Disease is Much More Common in Old Order Amish than General Population
By working closely with the Amish community, clinicians are able to gather the critical information to effectively treat patients with a genetic neuroinflammatory condition
Children’s Hospital of Philadelphia, Clinic for Special Children Discover Ultra Rare Form of Neuroinflammatory Disease is Much More Common in Old Order Amish than General Population
Researchers found that complement factor I (CFI) deficiency, an ultra-rare genetic disorder that can cause debilitating neuroinflammation, is more than 4500 times more likely to be found in individuals of Old Order Amish ancestry than the rest of the global population.
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