Fixation of Subtrochanteric Fractures in Two Patients with Osteopetrosis Using a Distal Femoral Locking Compression Plate of the Contralateral Side

Amit, Srivastav; Shehkar, Agarwal; Vivek, Mittal; Srivastav, Sudesh; Nadkarni, Biren

doi:10.1007/s00068-009-8237-7

Cited by 31 publications

(22 citation statements)

References 26 publications

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“…(8,9) Two-year data from the use of an orally bioavailable osteoclast-specific cathepsin K inhibitor, odanacatib (50 mg), in postmenopausal women have demonstrated significant increases in BMD versus placebo for lumbar spine, total hip, femoral neck, and trochanter, and no tolerability concerns, particularly involving skin, have been reported. (10) Atypical subtrochanteric femoral fractures, as seen in our patient, have been described previously in pycnodysostosis, (11)(12)(13) osteopetrosis, (14,15) and hypophosphatasia, (16,17) but recent case series demonstrate a potential association between similar fractures and bisphosphonate use. (18)(19)(20) A review of over 14,000 women from bisphosphonate trials, however, found the occurrence of these fractures to be rare.…”

Section: Discussionsupporting

confidence: 65%

An atypical subtrochanteric femoral fracture from pycnodysostosis: A lesson from nature

Yates

Bartlett

Ebeling

2010

Journal of Bone and Mineral Research

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This case describes a man with an unusual cause of an atypical subtrochanteric fracture, pycnodysostosis. This condition results from mutations involving the cathepsin K gene. New antiresorptive treatments for osteoporosis inhibit the cathepsin K enzyme in osteoclasts. Therefore, there should be vigilant monitoring for the development of long-term complications noted to occur in diseases of reduced osteoclast function, including pycnodysostosis, in patients receiving these novel antiresorptive agents. ß

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Section: Discussionsupporting

confidence: 65%

An atypical subtrochanteric femoral fracture from pycnodysostosis: A lesson from nature

Yates

Bartlett

Ebeling

2010

Journal of Bone and Mineral Research

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“…Osteopetrosis : Our literature search identified 4 cases of AFFs occurring in bisphosphonate‐naïve individuals with osteopetrosis, although the underlying mutated gene was not reported in these articles . All authors described the surgical difficulties in the repair of the subtrochanteric femoral fractures in sclerotic bone.…”

Section: Resultsmentioning

confidence: 99%

Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review

Nguyen¹,

Laarschot

Verkerk

et al. 2018

JBMR Plus

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Atypical femoral fractures (AFFs) are uncommon and have been associated particularly with long‐term antiresorptive therapy, including bisphosphonates. Although the pathogenesis of AFFs is unknown, their identification in bisphosphonate‐naïve individuals and in monogenetic bone disorders has led to the hypothesis that genetic factors predispose to AFF. Our aim was to review and summarize the evidence for genetic factors in individuals with AFF. We conducted structured literature searches and hand‐searching of conference abstracts/reference lists for key words relating to AFF and identified 2566 citations. Two individuals independently reviewed citations for (i) cases of AFF in monogenetic bone diseases and (ii) genetic studies in individuals with AFF. AFFs were reported in 23 individuals with the following 7 monogenetic bone disorders (gene): osteogenesis imperfecta (COL1A1/COL1A2), pycnodysostosis (CTSK), hypophosphatasia (ALPL), X‐linked osteoporosis (PLS3), osteopetrosis, X‐linked hypophosphatemia (PHEX), and osteoporosis pseudoglioma syndrome (LRP5). In 8 cases (35%), the monogenetic bone disorder was uncovered after the AFF occurred. Cases of bisphosphonate‐naïve AFF were reported in pycnodysostosis, hypophosphatasia, osteopetrosis, X‐linked hypophosphatemia, and osteoporosis pseudoglioma syndrome. A pilot study in 13 AFF patients and 268 controls identified a greater number of rare variants in AFF cases using exon array analysis. A whole‐exome sequencing study in 3 sisters with AFFs showed, among 37 shared genetic variants, a p.Asp188Tyr mutation in the GGPS1 gene in the mevalonate pathway, critical to osteoclast function, which is also inhibited by bisphosphonates. Two studies completed targeted ALPL gene sequencing, an ALPL heterozygous mutation was found in 1 case of a cohort of 11 AFFs, whereas the second study comprising 10 AFF cases did not find mutations in ALPL. Targeted sequencing of ALPL, COL1A1, COL1A2, and SOX9 genes in 5 cases of AFF identified a variant in COL1A2 in 1 case. These findings suggest a genetic susceptibility for AFFs. A large multicenter collaborative study of well‐phenotyped AFF cases and controls is needed to understand the role of genetics in this uncommon condition. © 2017 The Authors JBMR Plus published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research.

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“…(3)(4)(5) Furthermore, ASFFs have been reported in additional heritable diseases of low bone turnoverosteopetrosis (6,7) and pycnodysostosis. (8) HPP is the inborn-error-of-metabolism characterized biochemically by low serum alkaline phosphatase (ALP) activity (hypophosphatasemia) and caused by loss-of-function mutation(s) within the gene that encodes the ''tissue-nonspecific'' isoenzyme of ALP (TNSALP).…”

Section: Introductionmentioning

confidence: 99%

“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia

Sutton

Mumm

Coburn

et al. 2012

Journal of Bone and Mineral Research

163

130

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We report a 55-year-old woman who suffered atypical subtrochanteric femoral fractures (ASFFs) after 4 years of exposure to alendronate and then zolendronate given for ''osteoporosis.'' Before alendronate treatment, she had low bone mineral density. After several months of therapy, metatarsal stress fractures began. Bisphosphonate (BP) administration was stopped following the ASFFs, and the adult form of hypophosphatasia (HPP) was diagnosed from low serum alkaline phosphatase (ALP) activity, high endogenous levels of two natural substrates for the ''tissue-nonspecific'' isoenzyme of ALP (TNSALP), and a heterozygous mutation within the gene that encodes this enzyme. Experience with other HPP families showed that her mutation (Arg71His) with a second defective TNSALP allele can cause severe HPP in infancy, and when heterozygous can cause mild HPP featuring premature loss of deciduous teeth in children. Because the skeletal disease of HPP results from extracellular accumulation of the TNSALP substrate inorganic pyrophosphate (PPi) and its inhibitory effect on mineralization, perhaps HPP patients or carriers will have adverse effects from BPs. BPs are analogues of PPi and can suppress bone turnover but also deactivate TNSALP. Our report is the first of BP exposure preceding ASFFs in adult HPP. To explore a potential role for TNSALP deactivation in ASFFs, mutation analysis of TNSALP should be studied in a cohort of these patients. Meanwhile, clinicians must suspect HPP when clinical or laboratory clues include premature loss of primary dentition, pseudofractures or recurrent poorly healing metatarsal stress fractures, a family history suggestive of HPP, or low serum ALP activity. If HPP is documented, BP treatment might be avoided. To establish the diagnosis of HPP, assays for two natural substrates for TNSALP and TNSALP mutation analysis are available in commercial laboratories. With positive findings, radiological or bone biopsy evidence of acquired osteomalacia would indicate the adult form of this inborn-error-of-metabolism. ß

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Fixation of Subtrochanteric Fractures in Two Patients with Osteopetrosis Using a Distal Femoral Locking Compression Plate of the Contralateral Side

Cited by 31 publications

References 26 publications

An atypical subtrochanteric femoral fracture from pycnodysostosis: A lesson from nature

An atypical subtrochanteric femoral fracture from pycnodysostosis: A lesson from nature

Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review

“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia

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