{"id":4230,"date":"2022-05-03T11:47:20","date_gmt":"2022-05-03T10:47:20","guid":{"rendered":"https:\/\/apps.nhslothian.scot\/refhelp\/guidelines\/osteogenesisimperfecta\/"},"modified":"2026-10-02T16:10:20","modified_gmt":"2026-10-02T15:10:20","slug":"osteogenesisimperfecta","status":"publish","type":"page","link":"https:\/\/apps.nhslothian.scot\/refhelp\/guidelines\/rheumatology-2\/osteogenesisimperfecta\/","title":{"rendered":"Osteogenesis Imperfecta"},"content":{"rendered":"\n<h4 class=\"wp-block-heading\">History<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">The typical presentation is with:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Multiple Low trauma fractures typically with onset during childhood adolescence<\/li>\n\n\n\n<li>Continued fractures during adult life<\/li>\n\n\n\n<li>Back pain or height loss<\/li>\n\n\n\n<li>Deafness<\/li>\n\n\n\n<li>Dental problems<\/li>\n\n\n\n<li>Soft tissue injuries and ligament laxity<\/li>\n\n\n\n<li>Many patients have a positive family history but this is not always present or necessary to make the diagnosis<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">Examination<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Blue sclerae (in about 80% of cases).<\/li>\n\n\n\n<li>Joint hypermobility.<\/li>\n\n\n\n<li>Bone deformity (in severe cases)<\/li>\n\n\n\n<li>Short stature<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">Investigations<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Routine biochemistry and vitamin D<\/li>\n\n\n\n<li>X-ray thoracic and lumbar spine if height loss or back pain<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">Management<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Lifestyle advice. Take a good diet with sufficient dietary calcium and vitamin D<\/li>\n\n\n\n<li>Consider vitamin D supplements during the winter months<\/li>\n\n\n\n<li>Strength and balance exercises<\/li>\n\n\n\n<li>Consult NHS Falls advice webpage: <a href=\"https:\/\/www.nhs.uk\/conditions\/falls\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.nhs.uk\/conditions\/falls\/<\/a><\/li>\n\n\n\n<li>Bone targeted drugs such as bisphosphonate\u2019s are not effective at reducing fracture risk<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>M.A &amp; S.R &#8211; 28-9-26<\/strong><\/p>\n\n\n\n<div class=\"wp-block-getwid-tabs\" data-active-tab=\"0\"><ul class=\"wp-block-getwid-tabs__nav-links\"><\/ul>\n<div class=\"wp-block-getwid-tabs__nav-link\"><span class=\"wp-block-getwid-tabs__title-wrapper\"><a href=\"#\"><span class=\"wp-block-getwid-tabs__title\">Referral Guidelines<\/span><\/a><\/span><\/div><div class=\"wp-block-getwid-tabs__tab-content-wrapper\"><div class=\"wp-block-getwid-tabs__tab-content\">\n<h4 class=\"wp-block-heading\">Who can refer<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">GPs, ANP<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">When to refer<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">Patients with suspected or known osteogenesis imperfecta should be referred to the osteoporosis service.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">How to refer<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">Via SCI gateway : WGH &gt; Rheumatology &gt; LI Rheumatology Referral<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Please state in the referral \u201cFAO Osteoporosis Service\u201d<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-getwid-tabs__nav-link\"><span class=\"wp-block-getwid-tabs__title-wrapper\"><a href=\"#\"><span class=\"wp-block-getwid-tabs__title\">Primary Care Management<\/span><\/a><\/span><\/div><div class=\"wp-block-getwid-tabs__tab-content-wrapper\"><div class=\"wp-block-getwid-tabs__tab-content\">\n<h4 class=\"wp-block-heading\">Initial management<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">Treat on a symptomatic basis with analgesics or NSAID to control pain pending clinic review if necessary.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Bisphosphonates and bone anabolic drugs have not been shown to reduce fracture risk in adults with osteogenesis imperfecta and should not be prescribed routinely.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Calcium and vitamin D supplements may be prescribed if dietary calcium is low and\/or vitamin D levels are low.<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-getwid-tabs__nav-link\"><span class=\"wp-block-getwid-tabs__title-wrapper\"><a href=\"#\"><span class=\"wp-block-getwid-tabs__title\">Resources and Links<\/span><\/a><\/span><\/div><div class=\"wp-block-getwid-tabs__tab-content-wrapper\"><div class=\"wp-block-getwid-tabs__tab-content\">\n<p class=\"wp-block-paragraph\">Brittle Bone Society &#8211; <a href=\"https:\/\/www.brittlebone.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">https:\/\/www.brittlebone.org\/<\/a><\/p>\n<\/div><\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>History The typical presentation is with: Examination Investigations Management M.A &amp; S.R &ndash; 28-9-26<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":4395,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_searchwp_excluded":"","footnotes":""},"categories":[621],"class_list":["post-4230","page","type-page","status-publish","hentry","category-osteogenesis-imperfecta"],"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"rttpg_featured_image_url":null,"rttpg_author":{"display_name":"NHS Lothian","author_link":"https:\/\/apps.nhslothian.scot\/refhelp\/author\/nhs-lothian\/"},"rttpg_comment":0,"rttpg_category":" <a href=\"https:\/\/apps.nhslothian.scot\/refhelp\/category\/rheumatology\/osteogenesis-imperfecta\/\" rel=\"tag\">Osteogenesis Imperfecta<\/a>","rttpg_excerpt":"History The typical presentation is with: Examination Investigations Management M.A &amp; S.R &ndash; 28-9-26","_links":{"self":[{"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/pages\/4230","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/comments?post=4230"}],"version-history":[{"count":3,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/pages\/4230\/revisions"}],"predecessor-version":[{"id":30277,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/pages\/4230\/revisions\/30277"}],"up":[{"embeddable":true,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/pages\/4395"}],"wp:attachment":[{"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/media?parent=4230"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/apps.nhslothian.scot\/refhelp\/wp-json\/wp\/v2\/categories?post=4230"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}