Gastrointestinal complaints in patients with osteogenesis imperfecta: The bright side of a rare genetic disorder
Osteogenesis imperfecta (OI) is a rare hereditary disorder of connective tissue. A Danish national registry study surprisingly identified digestive causes as one of the leading causes of OI mortality. However, there is a dearth of prospective data describing gastrointestinal symptoms in OI. Our aim...
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| Vydané v: | Bone (New York, N.Y.) Ročník 200; s. 117589 |
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| Hlavní autori: | , , , , , , , , , , , |
| Médium: | Journal Article |
| Jazyk: | English |
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United States
Elsevier Inc
01.11.2025
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| ISSN: | 8756-3282, 1873-2763, 1873-2763 |
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| Abstract | Osteogenesis imperfecta (OI) is a rare hereditary disorder of connective tissue. A Danish national registry study surprisingly identified digestive causes as one of the leading causes of OI mortality. However, there is a dearth of prospective data describing gastrointestinal symptoms in OI. Our aim was to assess common gastrointestinal symptoms in an OI patient population and compare it to the general U.S. population.
OI patients enrolled in a natural history protocol (NCT03575221) were prospectively evaluated for gastrointestinal symptoms and provided with PROMIS questionnaires for six gastrointestinal symptoms. The HMSS application was used to obtain T scores, score of 50 (and standard deviation of 10) representing the average of the general U.S. population.
41 OI patients were included. Median age 28 years (IQR 18–26), median BMI 28 kg/m2 (IQR 21–34), and 54 % female. OI type IV 61 %, OI type III 20 %, and remaining patients had OI type VI, VII, XIV. The mean T score for the six gastrointestinal symptoms ranged from 46 to 49, within 1 SD from the general U.S. population. Subgroup analyses showed no differences based on age, mobility, BMI, type of OI and genetic mutations (COL1A1 vs COL1A2), except increased abdominal pain with age. Patients with severe scoliosis (>50°) reported increased nausea and vomiting, and diarrhea compared to patients with mild to moderate scoliosis.
We report the largest cohort of OI patients evaluated prospectively and directly for gastrointestinal complaints. Study patients, which excluded type I OI, did not report gastrointestinal symptoms higher than the general population except for abdominal pain in older patients. OI patients should be carefully evaluated in the same way as any other patient presenting with gastrointestinal complaints.
•Single center, prospective study evaluating GI symptoms in OI patients.•OI patients report no more GI symptoms than the general U.S. population.•Subgroup analysis: More abdominal pain with age.•Subgroup analyses: More nausea/vomiting and diarrhea with severe scoliosis.•Subgroup analyses: No difference based on mobility, BMI, OI type, and genetic mutations. |
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| AbstractList | Osteogenesis imperfecta (OI) is a rare hereditary disorder of connective tissue. A Danish national registry study surprisingly identified digestive causes as one of the leading causes of OI mortality. However, there is a dearth of prospective data describing gastrointestinal symptoms in OI. Our aim was to assess common gastrointestinal symptoms in an OI patient population and compare it to the general U.S. population.
OI patients enrolled in a natural history protocol (NCT03575221) were prospectively evaluated for gastrointestinal symptoms and provided with PROMIS questionnaires for six gastrointestinal symptoms. The HMSS application was used to obtain T scores, score of 50 (and standard deviation of 10) representing the average of the general U.S. population.
41 OI patients were included. Median age 28 years (IQR 18–26), median BMI 28 kg/m2 (IQR 21–34), and 54 % female. OI type IV 61 %, OI type III 20 %, and remaining patients had OI type VI, VII, XIV. The mean T score for the six gastrointestinal symptoms ranged from 46 to 49, within 1 SD from the general U.S. population. Subgroup analyses showed no differences based on age, mobility, BMI, type of OI and genetic mutations (COL1A1 vs COL1A2), except increased abdominal pain with age. Patients with severe scoliosis (>50°) reported increased nausea and vomiting, and diarrhea compared to patients with mild to moderate scoliosis.
We report the largest cohort of OI patients evaluated prospectively and directly for gastrointestinal complaints. Study patients, which excluded type I OI, did not report gastrointestinal symptoms higher than the general population except for abdominal pain in older patients. OI patients should be carefully evaluated in the same way as any other patient presenting with gastrointestinal complaints.
•Single center, prospective study evaluating GI symptoms in OI patients.•OI patients report no more GI symptoms than the general U.S. population.•Subgroup analysis: More abdominal pain with age.•Subgroup analyses: More nausea/vomiting and diarrhea with severe scoliosis.•Subgroup analyses: No difference based on mobility, BMI, OI type, and genetic mutations. Osteogenesis imperfecta (OI) is a rare hereditary disorder of connective tissue. A Danish national registry study surprisingly identified digestive causes as one of the leading causes of OI mortality. However, there is a dearth of prospective data describing gastrointestinal symptoms in OI. Our aim was to assess common gastrointestinal symptoms in an OI patient population and compare it to the general U.S.BACKGROUNDOsteogenesis imperfecta (OI) is a rare hereditary disorder of connective tissue. A Danish national registry study surprisingly identified digestive causes as one of the leading causes of OI mortality. However, there is a dearth of prospective data describing gastrointestinal symptoms in OI. Our aim was to assess common gastrointestinal symptoms in an OI patient population and compare it to the general U.S.OI patients enrolled in a natural history protocol (NCT03575221) were prospectively evaluated for gastrointestinal symptoms and provided with PROMIS questionnaires for six gastrointestinal symptoms. The HMSS application was used to obtain T scores, score of 50 (and standard deviation of 10) representing the average of the general U.S.METHODSOI patients enrolled in a natural history protocol (NCT03575221) were prospectively evaluated for gastrointestinal symptoms and provided with PROMIS questionnaires for six gastrointestinal symptoms. The HMSS application was used to obtain T scores, score of 50 (and standard deviation of 10) representing the average of the general U.S.41 OI patients were included. Median age 28 years (IQR 18-26), median BMI 28 kg/m2 (IQR 21-34), and 54 % female. OI type IV 61 %, OI type III 20 %, and remaining patients had OI type VI, VII, XIV. The mean T score for the six gastrointestinal symptoms ranged from 46 to 49, within 1 SD from the general U.S.RESULTS41 OI patients were included. Median age 28 years (IQR 18-26), median BMI 28 kg/m2 (IQR 21-34), and 54 % female. OI type IV 61 %, OI type III 20 %, and remaining patients had OI type VI, VII, XIV. The mean T score for the six gastrointestinal symptoms ranged from 46 to 49, within 1 SD from the general U.S.Subgroup analyses showed no differences based on age, mobility, BMI, type of OI and genetic mutations (COL1A1 vs COL1A2), except increased abdominal pain with age. Patients with severe scoliosis (>50°) reported increased nausea and vomiting, and diarrhea compared to patients with mild to moderate scoliosis.POPULATIONSubgroup analyses showed no differences based on age, mobility, BMI, type of OI and genetic mutations (COL1A1 vs COL1A2), except increased abdominal pain with age. Patients with severe scoliosis (>50°) reported increased nausea and vomiting, and diarrhea compared to patients with mild to moderate scoliosis.We report the largest cohort of OI patients evaluated prospectively and directly for gastrointestinal complaints. Study patients, which excluded type I OI, did not report gastrointestinal symptoms higher than the general population except for abdominal pain in older patients. OI patients should be carefully evaluated in the same way as any other patient presenting with gastrointestinal complaints.DISCUSSIONWe report the largest cohort of OI patients evaluated prospectively and directly for gastrointestinal complaints. Study patients, which excluded type I OI, did not report gastrointestinal symptoms higher than the general population except for abdominal pain in older patients. OI patients should be carefully evaluated in the same way as any other patient presenting with gastrointestinal complaints. Osteogenesis imperfecta (OI) is a rare hereditary disorder of connective tissue. A Danish national registry study surprisingly identified digestive causes as one of the leading causes of OI mortality. However, there is a dearth of prospective data describing gastrointestinal symptoms in OI. Our aim was to assess common gastrointestinal symptoms in an OI patient population and compare it to the general U.S. OI patients enrolled in a natural history protocol (NCT03575221) were prospectively evaluated for gastrointestinal symptoms and provided with PROMIS questionnaires for six gastrointestinal symptoms. The HMSS application was used to obtain T scores, score of 50 (and standard deviation of 10) representing the average of the general U.S. 41 OI patients were included. Median age 28 years (IQR 18-26), median BMI 28 kg/m (IQR 21-34), and 54 % female. OI type IV 61 %, OI type III 20 %, and remaining patients had OI type VI, VII, XIV. The mean T score for the six gastrointestinal symptoms ranged from 46 to 49, within 1 SD from the general U.S. Subgroup analyses showed no differences based on age, mobility, BMI, type of OI and genetic mutations (COL1A1 vs COL1A2), except increased abdominal pain with age. Patients with severe scoliosis (>50°) reported increased nausea and vomiting, and diarrhea compared to patients with mild to moderate scoliosis. We report the largest cohort of OI patients evaluated prospectively and directly for gastrointestinal complaints. Study patients, which excluded type I OI, did not report gastrointestinal symptoms higher than the general population except for abdominal pain in older patients. OI patients should be carefully evaluated in the same way as any other patient presenting with gastrointestinal complaints. |
| ArticleNumber | 117589 |
| Author | Yang, Alexander H. Wright, Elizabeth C. Lai, Chunwei Walter Asif, Bilal Derkyi, Alberta Marini, Joan C. Heller, Theo Koh, Christopher Viana Rodriguez, Gracia M. Vittal, Anusha Talvacchio, Sara Sharma, Disha |
| Author_xml | – sequence: 1 givenname: Disha surname: Sharma fullname: Sharma, Disha email: dishasharma1994@gmail.com organization: Digestive Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States – sequence: 2 givenname: Gracia M. surname: Viana Rodriguez fullname: Viana Rodriguez, Gracia M. email: gracia.vianarodriguez@nih.gov organization: Digestive Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States – sequence: 3 givenname: Chunwei Walter surname: Lai fullname: Lai, Chunwei Walter email: chunwei.lai@meritushealth.com organization: Digestive Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States – sequence: 4 givenname: Bilal surname: Asif fullname: Asif, Bilal email: bilal.Asif@nyulangone.org organization: Digestive Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States – sequence: 5 givenname: Sara surname: Talvacchio fullname: Talvacchio, Sara email: sara.talvacchio@nih.gov organization: Office of the Clinical Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States – sequence: 6 givenname: Alexander H. surname: Yang fullname: Yang, Alexander H. email: aly009@health.ucsd.edu organization: Digestive Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States – sequence: 7 givenname: Anusha surname: Vittal fullname: Vittal, Anusha email: anusha.vittal@medstar.net organization: Digestive Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States – sequence: 8 givenname: Alberta surname: Derkyi fullname: Derkyi, Alberta email: alberta.derkyi@nih.gov organization: Office of the Clinical Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States – sequence: 9 givenname: Christopher surname: Koh fullname: Koh, Christopher email: christopher.koh@nih.gov organization: Digestive Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States – sequence: 10 givenname: Elizabeth C. surname: Wright fullname: Wright, Elizabeth C. email: wrightel@niddk.nih.gov organization: Office of the Director, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States – sequence: 11 givenname: Joan C. surname: Marini fullname: Marini, Joan C. email: marinij@cc1.nichd.nih.gov organization: Section on Heritable Disorders of Bone and Extracellular Matrix, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20855, United States – sequence: 12 givenname: Theo surname: Heller fullname: Heller, Theo email: theoh@intra.niddk.nih.gov organization: Digestive Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/40645259$$D View this record in MEDLINE/PubMed |
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| Keywords | AR GI AD Motility NSAIDs Osteogenesis imperfecta Abdominal pain OI Skeletal dysplasia Gastrointestinal Constipation BMI |
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| Title | Gastrointestinal complaints in patients with osteogenesis imperfecta: The bright side of a rare genetic disorder |
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