{"id":149,"date":"2026-01-08T19:30:15","date_gmt":"2026-01-08T19:30:15","guid":{"rendered":"https:\/\/theoiguy.com\/?page_id=149"},"modified":"2026-01-08T19:34:56","modified_gmt":"2026-01-08T19:34:56","slug":"osteogenesis-imperfecta-diffuse-idiopathic-skeletal-hyperostosis-and-hypophosphatasia-one-year-in-review-2025","status":"publish","type":"page","link":"https:\/\/theoiguy.com\/?page_id=149","title":{"rendered":"Osteogenesis imperfecta, diffuse idiopathic skeletal hyperostosis, and hypophosphatasia one year in review 2025"},"content":{"rendered":"\n

Original Posting<\/strong>:<\/p>\n\n\n\n

https:\/\/pubmed.ncbi.nlm.nih.gov\/40631423<\/a><\/p>\n\n\n\n

This summary draws from the second source provided, titled “One Year in Review 2025,”<\/strong> which provides a modern update on the classification, clinical challenges, and treatment of Osteogenesis Imperfecta (OI)<\/strong>.<\/p>\n\n\n\n

A Modern Look at OI: Classification and New Discoveries<\/strong><\/p>\n\n\n\n

The sources explain that OI is primarily a genetic disorder affecting type I collagen<\/strong>, which makes up 90% of our bone matrix. While we have known about the “Sillence types” (1\u20135) for decades, doctors are moving toward a “dyadic nosology.”<\/strong> This means they now use a two-part system that combines a patient’s clinical symptoms<\/strong> (like bone fragility or blue sclera) with their genetic mutation<\/strong> (types I\u2013XXIII). This change is necessary because people in the same family with the same mutation can have very different levels of severity.<\/p>\n\n\n\n

Broadening the Focus: It\u2019s More Than Just Bones<\/strong><\/p>\n\n\n\n

New research from 2024\u20132025 highlights that OI affects the entire body, not just the skeleton:<\/p>\n\n\n\n

\u2022 Hearing Loss:<\/strong> A large study found that hearing loss is much more common in OI patients (17%) than in the general population (4%) and typically starts about 16 years earlier<\/strong>, often around age 42.<\/p>\n\n\n\n

\u2022 Heart Health:<\/strong> While there are no formal guidelines yet, researchers suggest all OI patients get a baseline echocardiogram<\/strong> to check for heart valve issues, especially if they have joint hypermobility.<\/p>\n\n\n\n

\u2022 Dental Issues:<\/strong> Between 20% and 48% of patients have Dentinogenesis Imperfecta<\/strong> (fragile, discolored teeth), and many deal with “Class III” malocclusions (underbites).<\/p>\n\n\n\n

\u2022 Eye Health:<\/strong> To help doctors more accurately identify “blue sclera,” a new computer-based procedure called “BLUES”<\/strong> has been developed to objectively measure the color of the eye.<\/p>\n\n\n\n

The Evolving Treatment Landscape<\/strong><\/p>\n\n\n\n

For years, bisphosphonates<\/strong> like neridronate and zoledronate have been the “cornerstone” of treatment to improve bone density. However, the sources point to an exciting new era of targeted therapies<\/strong>:<\/p>\n\n\n\n

\u2022 Denosumab:<\/strong> This is a strong alternative to bisphosphonates, though doctors must watch for rebound high calcium levels<\/strong> in children.<\/p>\n\n\n\n

\u2022 Setrusumab:<\/strong> A new antibody that has shown great promise in adults by significantly increasing bone density in the spine and hips.<\/p>\n\n\n\n

\u2022 Future Frontiers:<\/strong> Trials are currently exploring stem cell transplants<\/strong> (MSC) for infants and new antibodies that target specific growth factors (TGF-\u03b2) to improve bone quality.<\/p>\n\n\n\n

——————————————————————————–<\/p>\n\n\n\n

What this may mean for OI Patients<\/strong><\/p>\n\n\n\n

For those living with OI, this recent research signals a shift toward “whole-body” care<\/strong>. It suggests that managing the condition is no longer just about preventing fractures; it now requires regular hearing tests, dental checkups, and heart screenings<\/strong> started much earlier in life than for the average person. The move toward a more detailed classification system means your doctor can provide a more personalized roadmap<\/strong> for your health. Most importantly, the arrival of new drugs like setrusumab<\/strong> and the study of stem cell therapies<\/strong> offer hope for treatments that don’t just “patch” the bone but actually improve its underlying structure and strength.<\/p>\n\n\n\n

<\/p>\n","protected":false},"excerpt":{"rendered":"

Original Posting: https:\/\/pubmed.ncbi.nlm.nih.gov\/40631423 This summary draws from the second source provided, titled “One Year in Review 2025,” which provides a modern update on the classification, clinical challenges, and treatment of Osteogenesis Imperfecta (OI). A Modern Look at OI: Classification and New Discoveries The sources explain that OI is primarily a […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":116,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"class_list":["post-149","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/theoiguy.com\/index.php?rest_route=\/wp\/v2\/pages\/149","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/theoiguy.com\/index.php?rest_route=\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/theoiguy.com\/index.php?rest_route=\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/theoiguy.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/theoiguy.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=149"}],"version-history":[{"count":2,"href":"https:\/\/theoiguy.com\/index.php?rest_route=\/wp\/v2\/pages\/149\/revisions"}],"predecessor-version":[{"id":153,"href":"https:\/\/theoiguy.com\/index.php?rest_route=\/wp\/v2\/pages\/149\/revisions\/153"}],"up":[{"embeddable":true,"href":"https:\/\/theoiguy.com\/index.php?rest_route=\/wp\/v2\/pages\/116"}],"wp:attachment":[{"href":"https:\/\/theoiguy.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=149"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}