Undiagnosed Bone Disease Hypophosphatasia Causes Chronic Pain in Majority of Patients

For those living with hypophosphatasia, suffering has long preceded understanding — a genetic disorder quietly dismantling bones, teeth, and quality of life while the medical system looks elsewhere. Affecting roughly three in every 100,000 people, this mutation of the ALPL gene disrupts the very enzyme that hardens bone, yet its victims wait an average of nearly six years before receiving a name for their pain. A new study from Central and Eastern Europe, examining 49 patients, places this invisible burden in plain sight — not as a curiosity of rare disease, but as a failure of recognition tha