Rare Genetic Disorder Leaves Bones Unable to Harden – And Many Patients Don't Even Know They Have It

A study of 49 hypophosphatasia patients in Central and Eastern Europe found the rare ALPL-related bone disease is often diagnosed too late.

Common problems included chronic musculoskeletal pain, fractures, tooth loss, and bone deformities, but alkaline phosphatase testing is often overlooked.

Published in Frontiers in Endocrinology, the research suggests many patients may not realize they have the disorder.

Earlier recognition could reduce diagnostic delays, improve pain control, and help prevent serious complications; only one patient was receiving enzyme replacement therapy.