Bone mineral density, vertebral compression fractures and pubertal delay in patients with autosomal recessive epidermolysis bullosa

2015 ◽  
Author(s):  
Moira Cheung ◽  
Niloofar Bozorgi ◽  
Jemima Mellerio ◽  
Mary Fewtrell ◽  
Jeremy Allgrove ◽  
...  
2015 ◽  
Vol 6;18 (6;11) ◽  
pp. 565-572
Author(s):  
Shuanglin Wan

Background: The causes of subsequent vertebral fractures after kyphoplasty are debated. It is reported that most new vertebral fractures after kyphoplasty develop in adjacent vertebrae. Objectives: We explored whether kyphoplasty increases the incidence of adjacent vertebral fractures and identified risk factors for new vertebral compression fractures (VCFs) after kyphoplasty. Study Design: Retrospective study. Setting: Inpatient population of a single center. Methods: We studied 356 patients treated with kyphoplasty from January 2008 to March 2012. Among those patients, there were 35 new VCFs after kyphoplasty. Subsequently, these patients were divided into 2 groups: an “adjacent fracture” group and a “nonadjacent fracture” group. In addition, all patients treated with kyphoplasty were further assigned to either a “new fracture” group or a “no fracture” group. Results: The occurrence of new VCFs in the “nonadjacent fracture” group was significantly higher than that in the “adjacent fracture” group. The average bone mineral density (BMD) of the spine was -3.95 in the “new fracture” group and -2.86 in the “no fracture” group. The risk of new vertebral fracture increased as the bone mineral density decreased (P < 0.05). The morbidity of women was significantly higher in the “new fracture” group (94.29%) than in the “no fracture” group (77.88%) (P = 0.025). Limitations: Retrospective study at a single center. Conclusion: New VCFs after kyphoplasty occurred most often in nonadjacent vertebrae. VCFs after kyphoplasty were common in patients with low bone mineral density and in women, suggesting that osteoporosis is an underlying mechanism. Institutional Review: This study was approved by the institutional review board. Key words: Percutaneous kyphoplasty, vertebral compression fractures, bone mineral density, polymethylmethacrylate, adjacent vertebral fracture


2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A204-A205
Author(s):  
Wade S Jodeh ◽  
Noura Nachawi ◽  
Leila Zeinab Khan

Abstract Background: Decreased bone mineral density (BMD) during pregnancy and lactation are rarely described in literature. We present this case of multiple compression fractures during and after pregnancy, highlighting the diagnostic and therapeutic dilemma of an overlooked diagnosis. Clinical Case: A 23-year-old female without significant past medical history, suffers from an acute onset lower back pain in the third trimester of her first pregnancy. On initial evaluation, this back pain was thought to be musculoskeletal and was dismissed by her medical team. No imaging was ordered throughout the duration of pregnancy, despite the pain remaining unrelenting. On her second day post-partum, she heard a “pop” in her back and fell while holding her newborn. Imaging revealed multiple vertebral compression fractures, in different stages of acuity. Due to debilitating pain, the patient quit breastfeeding and ultimately would never hold her baby again. Her simple activities of daily living were stymied, both as a mother and secretary. It wasn’t long before she couldn’t even fax forms in her office and had to leave work with debility. Traumatized by these life events and continuing to be afflicted by this chronic pain, the patient decided against having any future children. Her compression fractures were managed with different types of analgesics in addition to vitamin D and calcium supplements. At age 53 and 57, BMD scans showed a T-score &gt;1 at both the lumbar spine and total hip. Forearm BMD was not evaluated at these times. At age 58, a CT spine demonstrated new compression fractures at T5-T12 & L1-L5. She subsequently underwent kyphoplasty of T5, T7 and T8. Fortunately, a bone core biopsy of these 3 vertebrae showed no malignant pathology. A follow up CT scan 6 months later showed stable compression fractures, along with multilevel degenerative changes and neural foraminal stenosis. At age 60, the patient would receive L4-L5 trans-foraminal epidural corticosteroid injection and referral to the bone clinic at a tertiary health center. Initial lab work on referral was significant for normal calcium, albumin, parathyroid hormone, vitamin D, kidney function, liver function, serum and urine protein electrophoresis and cross link N-telopeptide. Osteocalcin was low at 3.9 ng/mL (NL 8.8–37.6 ng/mL). Repeat BMD scan showed T-scores of 0.6, 1.1 and -2.6 at her lumbar spine, total hip and distal forearm respectively. Her osteoporosis is currently managed with teriparatide without active issues. Conclusion: This case highlights the rare development of low BMD in pregnant and breastfeeding women, without prior risk factors, jeopardizing future quality of life. The evidence behind the incidence and pathophysiology underlying these changes remains deficient. There remains a dearth of guidelines for definition and treatment of osteoporosis and low BMD in young peripartum women.


1998 ◽  
Vol 1 (3) ◽  
pp. 275-278 ◽  
Author(s):  
Robert A. Adler ◽  
Rolf R. Nordlie ◽  
Timothy S. Burke

2002 ◽  
Vol 87 (8) ◽  
pp. 3819-3824 ◽  
Author(s):  
Gwenaelle Carn ◽  
Daniel L. Koller ◽  
Munro Peacock ◽  
Siu L. Hui ◽  
Wayne E. Evans ◽  
...  

A major determinant of the risk of osteoporosis is peak bone mineral density (BMD), which has been shown to have substantial heritability. The genes for 3 BMD-related phenotypes (autosomal dominant high bone mass, autosomal recessive osteoporosis-pseudoglioma, and autosomal recessives osteopetrosis) are all in the chromosome 11q12-13 region. We reported linkage of peak BMD in a large sample of healthy premenopausal sister pairs to this same chromosomal region, suggesting that the genes underlying these 3 disorders may also play a role in determining peak BMD within the normal population. To test this hypothesis, we examined the gene responsible for 1 form of autosomal recessive osteopetrosis, TCIRG1, which encodes an osteoclast-specific subunit (OC116) of the vacuolar proton pump. We identified 3 variants in the sequence of TCIRG1, but only one, single nuclear polymorphism 906713, had sufficient heterozygosity for use in genetic analyses. Our findings were consistent with linkage to femoral neck BMD, but not to spine BMD, in a sample of 995 healthy premenopausal sister pairs. However, further analysis, using both population and family-based disequilibrium approaches, did not demonstrate any evidence of association between TCIRG1 and the spine or femoral neck BMD. Therefore, our linkage data suggest that the chromosomal region that contains OC116 harbors a gene that affects peak BMD, but our association results indicate that polymorphisms in the OC116 gene do not affect peak BMD.


2020 ◽  
pp. 120-127
Author(s):  
O. V. Dobrovolskaya ◽  
A. O. Efremova ◽  
N. V. Demin ◽  
N. V. Toroptsova

Introduction: Decrease in bone mineral density (BMD) and risk of fractures in rheumatic diseases (RD) is caused by the pathogenetic mechanisms underlying RD and the effects of drugs used to treat them on bone.Aim of the study: to assess the condition of BMD, frequency and risk of fractures in postmenopausal women with different RD.Material and methods: The study enrolled 260 women in postmenopause (median age 61 years) (54; 68 year) with systemic scleroderma (SS), rheumatoid arthritis (RA) and osteoarthritis (OA). Patients were sanitized and examined using dual energy X-ray absorptiometry; a 10-year risk of fractures was calculated using the FRAX® algorithm.Results: A reduced BMD was observed in 210 (81%) women with RD, while osteoporosis (OP) was found in 43% of women with SS, 31% of women with RA and 17% of women with OA. In all RD, osteoporosis was more common in the lumbar spine than in the proximal femur. The frequency of low-energy fractures in the anamnesis was 35, 29 and 20 percent for those with SS, RA and OA, respectively. The most frequent fractures among women with SS and RA were vertebral fractures, and in patients with OA - forearm fractures. The 10-year risk of new fractures according to FRAX® and the need for antiosteoporotic treatment in women with OA was less than in patients with SS and RA (p < 0.0001). Of all patients examined, 44% needed pathogenetic antiosteoporotic therapy, and in actual practice 25% of women received it. Patients with RA were most often treated with zoledronic acid, alendronate and parenteral form of ibandronate.Conclusions: The frequency of OPs and the 10-year risk of fractures in autoimmune RD was significantly higher than in OA. The structure of low-energy fractures in RD is different: in autoimmune processes and glucocorticoids (GC) intake, spinal compression fractures were significantly more common. Pathogenetic treatment for OP in women in post-menopause with RD is not performed frequently enough, which may cause repeated low-energy fractures.


2014 ◽  
Vol 21 (4) ◽  
pp. 146
Author(s):  
Seong Wan Kim ◽  
Young joon Ahn ◽  
Bo Kyu Yang ◽  
Seung Rim Yi ◽  
Se Hyuk Im ◽  
...  

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