The first International Guidelines for the Diagnosis and Management of HHT are now available on line at the Journal of Medical Genetics.
This comprehensive document details international recommendations for the diagnosis of HHT and for related AVMs, by organ. It also details recommendations for management of themulti-system manifestations of the disorder. The HHT Guidelines were developed with experts from 13 countries, using AGREE methodology for pre-meeting evidence search, retrieval and abstraction, and GRADE methodology for the recommendation development process.
The guidelines development process also involved HHT patients. HHT is a not-so-rare (1/5000) autosomal dominant disease which unfortunately remains under-diagnosed and under-treated. The development and publication of these evidence-based consensus guidelines are the first step towards improving the standard of care for HHT patients.