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THU470 Blood - Bone Connection? A Case Of A Young Woman With Bilateral Hip Osteonecrosis And Prothrombin Mutation

Disclosure: A. Sliwinska: None. C. Vanek: None. Introduction: Osteonecrosis of the femoral head (ONFH) is a localized bone disease responsible for 10% of total hip replacements in the United States. Although the condition is a separate entity from osteoporosis, it may co-occur representing underlyin...

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Autores principales: Sliwinska, Aleksandra, Vanek, Chaim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10554123/
http://dx.doi.org/10.1210/jendso/bvad114.431
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author Sliwinska, Aleksandra
Vanek, Chaim
author_facet Sliwinska, Aleksandra
Vanek, Chaim
author_sort Sliwinska, Aleksandra
collection PubMed
description Disclosure: A. Sliwinska: None. C. Vanek: None. Introduction: Osteonecrosis of the femoral head (ONFH) is a localized bone disease responsible for 10% of total hip replacements in the United States. Although the condition is a separate entity from osteoporosis, it may co-occur representing underlying systemic bone disease. Many risk factors (steroids, trauma, infections, thrombophilia, blood cell dyscrasias) can predispose to ONFH, therefore, diligent evaluation is required to reveal the underlying cause. There are no FDA approved therapies. Here, we present a case of young woman with bilateral osteonecrosis of femoral head who was found to have prothrombin gene mutation, severe osteoporosis, and was successfully treated with PTH analog therapy with abaloparatide. Case Description: 33-year-old Asian female with no past medical history presented to the Endocrinology clinic for a metabolic bone disease assessment. Two years prior, she developed progressive bilateral hip pain which prompted radiographic evaluation, discovering bilateral ONFH. She was managed non-surgically with a 6-month trial of oral alendronate. Worsening pain prompted left hip decompression surgery with stem cell transfer. Patient had no history of fragility fractures nor family history of bone disease. A bone density revealed Z scores of -3.9 and -3.5 in lumbar spine and total hip, respectively. She was taking 2000 IU vitamin D3 and 600 mg of elemental calcium daily. Her blood tests revealed normal basic metabolic panel, normal complete blood count and liver function tests. Calcium was 9.0 mg/dl (ref:8.6-10.2), albumin 4.6 mg/dl (3.5-4.7 mg/dl), phosphorus 4.0 mg/dl (2.4-4.7 mg/dl), PTH of 28 pg/ml (18-88 pg/ml), Vitamin D 25-hydroxy 41.3 ng/ml (30-80 ng/ml), and TSH was 1.66 mIU/L (0.39-4.17 mIU/L). Patient had an infectious, metabolic and rheumatological work-up that was negative. A thrombosis workup showed a heterozygous prothrombin gene (G20210A) mutation. Factor V Leiden mutation was negative. Repeat Hip MRI showed progression of her ONFH with marked bone marrow edema in femoral head bilaterally. Patient was then started on abaloparatide. After 6 months, hip MRI showed marked improvement with no bone marrow edema. Discussion: Osteonecrosis of the femoral head is a complex disease that can affect young individuals. Bilateral ONFH suggests systemic disease and a thorough work-up is necessary. Although the exact mechanism is unclear, it has been hypothesized that thrombin plays a role in bone homeostasis therefore hematologic disorders may predispose patients to both ONFH and osteoporosis. Medical treatment of ONFH, including bisphosphonates, statins, or anticoagulants, have been suggested. Recently the PTH analog, teriparatide, has shown promising results and found to be beneficial in treating osteonecrosis. Our case highlights importance of thorough work-up for patients with bilateral ONFH and successful use of anabolic agent in this population. Presentation: Thursday, June 15, 2023
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spelling pubmed-105541232023-10-06 THU470 Blood - Bone Connection? A Case Of A Young Woman With Bilateral Hip Osteonecrosis And Prothrombin Mutation Sliwinska, Aleksandra Vanek, Chaim J Endocr Soc Bone And Mineral Metabolism Disclosure: A. Sliwinska: None. C. Vanek: None. Introduction: Osteonecrosis of the femoral head (ONFH) is a localized bone disease responsible for 10% of total hip replacements in the United States. Although the condition is a separate entity from osteoporosis, it may co-occur representing underlying systemic bone disease. Many risk factors (steroids, trauma, infections, thrombophilia, blood cell dyscrasias) can predispose to ONFH, therefore, diligent evaluation is required to reveal the underlying cause. There are no FDA approved therapies. Here, we present a case of young woman with bilateral osteonecrosis of femoral head who was found to have prothrombin gene mutation, severe osteoporosis, and was successfully treated with PTH analog therapy with abaloparatide. Case Description: 33-year-old Asian female with no past medical history presented to the Endocrinology clinic for a metabolic bone disease assessment. Two years prior, she developed progressive bilateral hip pain which prompted radiographic evaluation, discovering bilateral ONFH. She was managed non-surgically with a 6-month trial of oral alendronate. Worsening pain prompted left hip decompression surgery with stem cell transfer. Patient had no history of fragility fractures nor family history of bone disease. A bone density revealed Z scores of -3.9 and -3.5 in lumbar spine and total hip, respectively. She was taking 2000 IU vitamin D3 and 600 mg of elemental calcium daily. Her blood tests revealed normal basic metabolic panel, normal complete blood count and liver function tests. Calcium was 9.0 mg/dl (ref:8.6-10.2), albumin 4.6 mg/dl (3.5-4.7 mg/dl), phosphorus 4.0 mg/dl (2.4-4.7 mg/dl), PTH of 28 pg/ml (18-88 pg/ml), Vitamin D 25-hydroxy 41.3 ng/ml (30-80 ng/ml), and TSH was 1.66 mIU/L (0.39-4.17 mIU/L). Patient had an infectious, metabolic and rheumatological work-up that was negative. A thrombosis workup showed a heterozygous prothrombin gene (G20210A) mutation. Factor V Leiden mutation was negative. Repeat Hip MRI showed progression of her ONFH with marked bone marrow edema in femoral head bilaterally. Patient was then started on abaloparatide. After 6 months, hip MRI showed marked improvement with no bone marrow edema. Discussion: Osteonecrosis of the femoral head is a complex disease that can affect young individuals. Bilateral ONFH suggests systemic disease and a thorough work-up is necessary. Although the exact mechanism is unclear, it has been hypothesized that thrombin plays a role in bone homeostasis therefore hematologic disorders may predispose patients to both ONFH and osteoporosis. Medical treatment of ONFH, including bisphosphonates, statins, or anticoagulants, have been suggested. Recently the PTH analog, teriparatide, has shown promising results and found to be beneficial in treating osteonecrosis. Our case highlights importance of thorough work-up for patients with bilateral ONFH and successful use of anabolic agent in this population. Presentation: Thursday, June 15, 2023 Oxford University Press 2023-10-05 /pmc/articles/PMC10554123/ http://dx.doi.org/10.1210/jendso/bvad114.431 Text en © The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Bone And Mineral Metabolism
Sliwinska, Aleksandra
Vanek, Chaim
THU470 Blood - Bone Connection? A Case Of A Young Woman With Bilateral Hip Osteonecrosis And Prothrombin Mutation
title THU470 Blood - Bone Connection? A Case Of A Young Woman With Bilateral Hip Osteonecrosis And Prothrombin Mutation
title_full THU470 Blood - Bone Connection? A Case Of A Young Woman With Bilateral Hip Osteonecrosis And Prothrombin Mutation
title_fullStr THU470 Blood - Bone Connection? A Case Of A Young Woman With Bilateral Hip Osteonecrosis And Prothrombin Mutation
title_full_unstemmed THU470 Blood - Bone Connection? A Case Of A Young Woman With Bilateral Hip Osteonecrosis And Prothrombin Mutation
title_short THU470 Blood - Bone Connection? A Case Of A Young Woman With Bilateral Hip Osteonecrosis And Prothrombin Mutation
title_sort thu470 blood - bone connection? a case of a young woman with bilateral hip osteonecrosis and prothrombin mutation
topic Bone And Mineral Metabolism
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10554123/
http://dx.doi.org/10.1210/jendso/bvad114.431
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