scholarly journals P10 Treating osteoporosis, facing reality – adopting a holistic approach

2021 ◽  
Vol 5 (Supplement_1) ◽  
Author(s):  
Rifat Mazumder ◽  
Zakia Sultana
Keyword(s):  
Vitamin D ◽  
Case Report ◽  
Mineral Density ◽  
Potential Health ◽  
Treatment Of Osteoporosis ◽  
Dexa Scan ◽  
Blood Tests ◽  
Clinical Scenarios ◽  
History Of ◽  
Bone Protection

Abstract Case report - Introduction Osteoporosis is a significant health problem; globally around 200 million women are affected. In Europe, osteoporosis is responsible for a higher disability encumber than cancer (with the exception of lung cancer). The treatment of osteoporosis is quite exacting. Although understanding of the diagnosis and treatment of osteoporosis has broadened considerably over the last few years, lack of bridging information still exists with guidance lacking on the appropriate management of complex comorbid clinical scenarios. Here we will present a scenario of a patient with osteoporosis and multiple risk factors and comorbidities, where choice of suitable anti osteoporotic treatment was quite challenging. Case report - Case description An 84-year-old lady with known osteoporosis with history of T-12 fracture (in 2009), sarcoidosis, coeliac disease (confirmed on duodenal biopsy), chronic hepatitis, history of acute kidney injury secondary to zoledronic acid infusion and urosepsis in 2017 was re-referred to the rheumatology clinic from respiratory team for optimisation of her bone protection. She was previously on risedronate for almost 5 years without any improvement of bone mineral density. She was last seen in rheumatology in 2018, because of ineffectiveness and intolerance to alendronate (gastritis) and intravenous zoledronate – a discussion about subcutaneous denosumab was had, but the patient refused that option because of needle phobia. So, the plan was to maintain her on optimisation of vitamin D and calcium level. She was discharged from the clinic. Her GP advised her against vitamin D or calcium supplements because of episodes of hypercalcaemia secondary to sarcoidosis. For the last 3 years she was not on any bone protection or even calcium or vitamin D supplements. Recently she noticed a worsening of exertional dyspnoea. She was reviewed by the respiratory team. Her lung function test showed slow progression of restrictive lung disease with FEV1/FVC ratio is 100.4%. In December 2020, she was started on prednisolone 30mg, which gradually stepped down; at the moment, she is on 15mg and will continue it as maintenance. The patient was an ex-smoker, and drinks alcohol at about 10 unit/week. Her mobility is slightly better compared to the last few years. She trys to keep active and is enjoy gardening in the sunny weather. It was difficult to convince her for blood tests; however, we succeeded after repeated counselling. Her blood tests showed microcytic anaemia, with normal inflammatory markers mild renal impairment with eGFR of 67, corrected calcium 2.19, alkaline phosphatase 78, vitamin D 49 (sub optimal) albumin 32. Case report - Discussion Considering her age, comorbidities, frailty, intolerance and doubt about the efficacy, selecting an appropriate bone protection for her was fairly hard. Starting denosumab had more risk than benefit and in future if it need to stop there is an increased chance of rebound fracture. Besides this, she re-expressed her reluctance to the subcutaneous option. Moreover, calcium and vitamin D level were low in her recent blood tests. She did not fulfil the criteria for considering teriperatide. We reviewed her DEXA scan in 2018, which showed an overall 19% reduction of BMD compared to 2009 (1.6% per year). She was on risedronate intermittently for about 4 years that time; however, she had not experienced any new fracture at that point. She had multiple hospital admissions during those years. Bone protection was withheld multiple times. Poor mobility, frailty status and other comorbidities during that period were also responsible for BMD decline. Her case was discussed with a consultant with special interest in metabolic bone disease. Treatment decisions should be individualised; risk versus benefit needs to be considered to ensure the best outcome for the patient. We have decided to put her back on risedronate for at least 3 years. She tolerated only this medication in the past. We have requested bone markers and a repeat DEXA scan. Case report - Key learning points Comorbidities adversely affect the management of osteoporosis. A comprehensive assessment of the comorbid list is necessary before considering changing a medication which suits the patient well and when there is limited option. Obstacles to offer high quality service are knowledge, expertise, and critical thinking from healthcare professionals, and knowledge and compliance to treatment from patients. Facing those challenges and treating patients judiciously will help to reduce the potential health and economic burden of osteoporosis.

scholarly journals MON-377 Fracture Site in High-Energy Trauma Is Associated with Osteoporosis Risk

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Charilaos Paulos Chourpiliadis ◽  
Dimitra Bantouna ◽  
Hara Hourpiliadi ◽  
Evangelos Karvounis ◽  
Juan Carlos Jaume ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vertebral Fractures ◽  
High Energy ◽  
Fracture Site ◽  
Tibial Fractures ◽  
Continuous Variables ◽  
Z Score ◽  
Mineral Density ◽  
Dexa Scan ◽  
History Of

Abstract Background: In our recent studies, we noted that patients with history of high energy fractures commonly have underlying endocrine abnormalities and low bone mineral density (BMD). In this expanded patient population, we aimed to investigate whether the fracture site can better predict the risk of abnormal BMD. Methods:We prospectively enrolled adult patients of both genders, with any history of high energy fracture. We measured serum PTH, vitamin-D and calcium and we performed BMD measurements with a DEXA scan. We split our subjects’ BMD, based on the lowest T- or Z-score in “Normal” (≥-0.9), “low bone mass” (LBM) (-1.0 to -2.4) and “Osteoporosis” (OST) (≤-2.5). We classified our patients according to fracture site, in vertebral, humeral, hip, tibial, malleolar-carpal, radial-ulnar and others, including rib fractures. Ratios were compared with χ 2 test, and continuous variables with one-way ANOVA. Results: We enrolled 444 consecutive subjects with 543 fractures. n=315 (71.0%) subjects had low BMD: OST 25.9% and LBM 45.1%. Among subjects <50 years of age, 43.1% had LBM and 9.2% OST, while in those >50, 46.3% had LBM and 36.6% OST (p<0.0001). The cohort’s mean lowest T/Z score was -1.6±1.2. Subjects with >1 fracture had more frequently low T/Z score (p=0.015). History of vertebral fractures provided the lowest mean T/Z score overall (-2.4±1.1), in females (-2.5±0.9) and subjects >50 (-2.5±1.1). The same holds true for hip fractures in males (-1.9±1.2) and subjects <50 (-2.1±1.4). Subjects with vertebral fractures had the lowest Hip (-1.7±1.2) and Spine (-2.3±1.2) T/Z scores, while those with tibial fractures had the lowest Radius T/Z score (-1.8±1.3). History of vertebral fractures was associated with the highest rate of OST (65.9%) in our overall population, males (50%), females (67.5%), subjects >50 (70.0%), while subjects with history of tibial fractures had the highest rate of normal BMD (46.2%), in males (80%) and females (50.4%), and those <50 (75.0%). Vitamin-D deficiency was present in 81.4% of all subjects. PTH was significantly higher in patients with OST compared to LBM or normal BMD (p=0.0006). Discussion: Patients with history of high energy fractures need to be screened with DEXA scan early, as they have high likelihood to suffer from osteoporosis.

scholarly journals AB0622 WHEN OSTEOPOROSIS, COELIAC DISEASE AND MULTIPLE MYELOMA CO-EXIST

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1345.1-1345
Author(s):  
S. Khalid ◽  
R. Smith
Keyword(s):  
Bone Mineral Density ◽  
Multiple Myeloma ◽  
Vitamin D ◽  
Coeliac Disease ◽  
Secondary Osteoporosis ◽  
Gluten Free ◽  
Z Score ◽  
Mineral Density ◽  
History Of ◽  
Secondary Causes

Background:Secondary causes of bone loss are sometimes overlooked in patients who are diagnosed as having osteoporosis. This is especially true if more than one risk factor for secondary osteoporosis is present, with clinicians focusing on the more common cause. Here we present a case of secondary osteoporosis caused by coeliac disease and multiple myeloma.Objectives:Secondary osteoporosis should be suspected in patients with very low bone mineral density and those with no obvious risk factors. Comprehensive examination and investigations must be done to look for all secondary causes because sometimes, as seen in our patient, you may find more than one.Methods:A 74 year old gentleman presented to the rheumatology clinic for assessment of osteoporosis. He had been recently diagnosed with coeliac disease. DXA scan showed a T score of -3.5 at the lumbar spine, -2.5 at the left hip and a low Z score of -2.9. He had not sustained any fractures in the past. There was no history of corticosteroid exposure and no parental history of hip fracture or osteoporosis. He drank up to 21 units of alcohol a week and was an ex-smoker. He was managing a gluten-free diet. His testosterone and vitamin D levels were normal. Serum electrophoresis, done as part of the osteoporosis workup, revealed a diagnosis of multiple myeloma. He then developed back pain and given his new diagnosis of myeloma, prompt investigations were carried out. A skeletal survey showed T7 fracture and a subsequent MRI scan showed impending cord compression, which were treated successfully with radiotherapy. He underwent chemotherapy and autologous stem cell transplantation for his myeloma.He recently had an OGD following one week post gluten rechallenge after an established gluten free diet. His biopsy shows no evidence of coeliac disease. Interestingly, the stem cell transplantation did not only treat our patient’s myeloma, but also his coeliac disease.Results:Z-score is a useful indicator of possible secondary osteoporosis. A score of −2.0 or less is below the expected range for age and should prompt careful scrutiny for an underlying cause.Coeliac disease is a gluten-sensitive enteropathy and a known cause for secondary osteoporosis. It likely causes bone loss by secondary hyperparathyroidism from vitamin D deficiency. Multiple myeloma is a disease of aging adults resulting in osteolytic and/or osteoporotic bone disease through increased bone resorption and decreased bone formation from pro-inflammatory cytokines. While coeliac disease patients are at increased risk of all malignancies, association with multiple myeloma is rare, but has been described.Conclusion:This case highlights the importance of evaluating for secondary causes for low bone mineral density and often, one may find more than one contributory factor. It also shows that a Z-score of −2.0 could help identify patients with a secondary cause for osteoporosis and those who would especially benefit from a thorough history and examination.References:[1]Sahin, Idris & Demir, Cengiz & Alay, Murat & Eminbeyli, Lokman. (2011). The Patient Presenting with Renal Failure Due to Multiple Myeloma Associated with Celiac Disease: Case Report. UHOD - Uluslararasi Hematoloji-Onkoloji Dergisi. 21. 10.4999/uhod.09087.[2]İpek, Belkiz & Aksungar, Fehime & Tiftikci, Arzu & Coskun, Abdurrahman & Serteser, Mustafa & Unsal, Ibrahim. (2016). A rare association: celiac disease and multiple myeloma in an asymptomatic young patient. Turkish Journal of Biochemistry. 41. 10.1515/tjb-2016-0053.[3]Swaminathan K, Flynn R, Garton M, Paterson C, Leese G. Search for secondary osteoporosis: are Z scores useful predictors? Postgrad Med J. 2009 Jan;85(999):38-9. doi: 10.1136/pgmj.2007.065748. PMID: 19240287.Disclosure of Interests:None declared.

scholarly journals Osteoporosis-Related Simultaneous Four Joints Fractures and Dislocation after a Seizure: A Case Report

2010 ◽  
Vol 2010 ◽  
pp. 1-4
Author(s):  
Abdullah S. AlOmran
Keyword(s):  
Vitamin D ◽  
Case Report ◽  
Clinical Examination ◽  
Epileptic Seizures ◽  
Antiresorptive Therapy ◽  
Multiple Fractures ◽  
Steroid Use ◽  
Skeletal Injury ◽  
History Of ◽  
Rule Out

A case of steroid-induced osteoporosis-related multiple fractures and dislocations are described after a seizure is reported. Patient had two years history of steroid use with no supplement or antiresorptive therapy. There was a delay in the diagnosis which affected an otherwise good outcome in such situations. It is recommended that patients on steroid should be given calcium, vitamin D, and an antiresorptive. Furthermore, a meticulous clinical examination is required in patients who are on steroids and suffer epileptic seizures to rule out skeletal injury.

P0911TO STUDY CHANGES IN BONE MINERAL DENSITY POST RENAL TRANSPLANTATION

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
PRASHANT MALVIYA ◽  
Soma Sekhar Mudigonda
Keyword(s):  
Bone Mineral Density ◽  
Vitamin D ◽  
Renal Transplantation ◽  
Lumbar Spine ◽  
Renal Transplant ◽  
Bone Mineral ◽  
Hip Joint ◽  
P Value ◽  
Mineral Density ◽  
Dexa Scan

Abstract Background and Aims Chronic kidney disease patients get affected by mineral bone disease in view of changes in various biochemical parameters. After transplantation there are changes in these parameters with additional effect of immunosuppression on bone mineral density. My study was to observe changes in biochemical parameters like calcium, phosphorus, vitamin D, parathyroid hormone, alkaline phosphatase and compare bone mineral density with the help of DEXA scan post renal transplantation after 3 and 6 months. It was a prospective observational comparative study. Aim of my study is to evaluate changes in Bone Mineral Density post renal transplantation Method Study was conducted at Apollo Tertiary care Hospital, Hyderabad which caters to rural as well as urban population in southern parts of India. This study was carried out form June 2017 to Dec 2018. Total 40 patients were included in study and they were followed up for the period of 6 months and underwent sets of investigations to assess their bone mineral density. Biochemical variables consist of calcium, phosphorus, alkaline phosphatase, vitamin D level and iPTH. Biochemical variables were classified into hypo, normal or hyper based on their lab values. iPTH values were considered high if value was nine times the upper limit of normal or low if value was less than two times the upper limit of normal. DEXA scan results were classified into normal, osteopenia and osteoporosis based on their t value. Results Study showed that patients who got admitted for transplant belong to age group of 31 – 50 yrs (39.8 +/- 12.8 yrs) predominantly male patients 30 (75%). In 25% patients (10) we were unable to find out native kidney disease shown as CKD (u). Other common causes were DM, ADPKD, CGN or CIN. Most patients were undergoing dialysis for more than 1 year, 47.5% (19) had significant loss of BMD as compared to patients whose dialysis was <1 year (p value 0.498 and 0.05). Hypocalcemia was predominantly seen in pretransplant period 26 (65%) but as the patient followed up level improved with few developing hypercalcemia 4 (10%) after 6 months. Hyperphosphotemia was seen in 19 (47.5%) patients before transplant while hypophosphatemia in 4 (10%) patients 6 months post transplantation, others had normal phosphorus level. Patients were on calcium and vitamin D supplements developed sufficiency to high level of vitamin D 33 (82.5%) patients 6 months post renal transplant. In iPTH around 12 (30%) of patients were having iPTH >150 pg/dl after 6 months of transplant. Majority presented for transplant detected to have osteoporosis and osteopenia at lumbar spine 31 (77.5%) and hip joint 27 (67.5%) with fracture risk 4 to 8 times of normal population. There was 8% and 10% increase in number of patients having osteoporosis at lumbar spine and hip joint respectively post-transplant. There was loss of 5.5% (mean t score at 0 month -1.98 and at 6 month -2.09) BMD at lumbar spine and 1.7% (mean t score at 0 month -1.83 and at 6 month -1.9) BMD at hip joint. Net loss of BMD was 3.6% over the period of 6 months. This accounts to increased risk of fractures post renal transplant. Biochemical variable in the form of iPTH has shown to have significant association with DEXA scan at lumbar spine (p value 0.01) and hip joint (p value 0.00) before and after transplant (p value of 0.01 and 0.00) though there was fall in iPTH level. Conclusion Pretransplant bone disease remains predominant cause of post-transplant bone disease with significant association with iPTH. Hypophosphatemia, hypercalcemia and high Vitamin D level are common findings in post-transplant period upto 6 months. Early use of DEXA scan along with follow up of biochemical variables can help to prognosticate and decide treatment strategies to reduce fracture risk in renal transplant recipients.

Non HRT Options for the Treatment of Osteoporosis

1998 ◽  
Vol 4 (3) ◽  
pp. 96-101
Author(s):  
Michael Davies
Keyword(s):  
Vitamin D ◽  
Vertebral Fracture ◽  
Bone Fractures ◽  
The Elderly ◽  
Long Bone ◽  
Mineral Density ◽  
Treatment Of Osteoporosis ◽  
Supplemental Calcium ◽  
Treatable Condition

Osteoporosis is now a treatable condition with an abundance of evidence for the efficacy of certain therapeutic strategies in preventing recurrent fractures. Most of these treatments act by improving bone mineral density through inhibition or reduction of bone resorption. For those women who are unable to take HRT; bisphosphonates, calcium, vitamin D, calcitriol or calcitonin may confer certain benefits. The bisphosphonate alendronate reduces both vertebral and long bone fractures, an effect seen soon after starting treatment. The changes in BMD and fracture reduction are less with the use of etidronate but it is certainly beneficial in reducing recurrent vertebral fracture. In the elderly calcium and vitamin D in combination can reduce non-vertebral and hip fracture and supplemental calcium of 1 g/day has been predicted to reduce bone loss and thus hip fractures by 22%. Evidence that calcitriol or calcitonin reduce fracture incidence is not good but calcitonin has been shown to have analgesic properties in those with acute vertebral fracture. The role of calcitriol is less certain and should be reserved for women with vertebral fractures in whom HRT or bisphosphonates cannot be used.

BONE REMODELING MARKERS AS PREDICTORS OF BONE METABOLIC CHANGES IN MALES WITH DIABETIC OSTEOPATHY

2020 ◽  
Vol 58 (3) ◽  
pp. 290-293
Author(s):  
S. S. Safarova ◽  
S. S. Safarova
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Bone Remodeling ◽  
Control Group ◽  
Mineral Density ◽  
Amino Terminal ◽  
Bone Remodeling Markers ◽  
History Of ◽  
Male Patients

Diabetic osteopathy is one of the little studied complications of diabetes mellitus (DM), which leads to common lowtrauma fractures and, as a consequence, disability and death. The level of insulin is connected with bone functional and morphological changes followed by decreased bone mineral density (BMD) in the early stages of diabetic osteopathy. Objective: to study bone morphofunctional properties in males with type 1 and 2 DM (T1DM and T2DM). Subjects and methods. Examinations were made in 41 male patients with T1DM and 52 male patients with T2DM without a history of fractures. Their age varied from 40 to 70 years (mean age, 55.8±0.7 years and 58.4±0.9 years, respectively). A control group consisted of 34 patients (mean age, 55.9±0.9 years) without a history of DM. Patients with other endocrine disorders, end-stage complications, or chronic liver and kidney diseases were excluded from the investigation. BMD was determined by dual-energy X-ray absorptiometry (DXA). Serum bone remodeling markers (procollagen type 1 amino-terminal propeptide and C-terminal telopeptide), as well as 25(OH)D, parathyrin, insulin, glycated hemoglobin (HbA1c), and electrolytes (Ca2+, P+) were evaluated. Results and discussion. An association of BMD with renal function, HbA1c, and body mass index was observed in patients with T2DM. In the T1MD group, BMD was closely related to insulin deficiency and was significantly lower than that in the control group. In patients with vitamin D deficiency, BMD was significantly lower than in those with normal vitamin D levels (p<0.05). The patients with T1DM displayed both a decrease in BMD (p<0.05) and a pronounced change in the levels of bone markers (p<0.05). Those with T2DM had impaired bone remodeling processes, which was determined by the level of these markers (p<0.05) and observed in the presence of normal BMD due to the complex pathophysiology of the underlying disease. Conclusion. Vitamin D deficiency, insufficient and decreased insulin sensitivity, hyperglycemia, and overweight are important causes of osteopathy in patients with DM. The markers of bone remodeling may become promising indicators for diagnosing osteopathy, but additional studies are needed to elaborate recommendations for their use in routine practice in order to predict and prevent this complication of DM.

Risk of bone loss in men with multiple sclerosis

2004 ◽  
Vol 10 (2) ◽  
pp. 170-175 ◽  
Author(s):  
Bianca Weinstock-Guttman ◽  
Eileen Gallagher ◽  
Monika Baier ◽  
Lydia Green ◽  
Joan Feichter ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Vitamin D ◽  
Lumbar Spine ◽  
Bone Loss ◽  
Femoral Neck ◽  
Bone Mass ◽  
Multivariate Linear Regression Analysis ◽  
Mineral Density ◽  
Factors Associated ◽  
Dexa Scan

Context: O steoporosis and the increased fracture risk associated with osteoporosis become apparent in men appro ximately 10 years later than women. However, in recent studies, appro ximately 20% of healthy men in the age range 55-64 years were found to be osteopenic. Emerging data suggest a significantly increased prevalence of osteoporosis in men and women with multiple sclerosis (MS) compared to age-matched controls, but no specific clinical testing recommendations are available for men. Objective: To determine the proportion of male MS patients with osteoporosis and to identify the factors associated with the reduction in bone mass. Design: C onsecutive male MS patients seen at our MS clinic were screened with dual-X-ray absorptiometry (DEXA) scan for determining the bone mineral density (BMD). A ll patients had neurological Expanded Disability Status Scale (EDSS) evaluation. The results were compared to healthy age-matched male reference population using the Z score and to a cohort of women MS patients and women controls. C alcium, total testosterone, sex-hormone binding globulin (SHBG), 25-hydro xy-vitamin-D, and parathyroid hormone (PTH) were evaluated in male patients with decreased BMD. Relevant data on body mass index (BMI), medicatio n, alcohol consumption, smoking, and sexual dysfunction were recorded. Setting: Academic MS C entre. Patients and other participants: Forty consecutive male MS patients, age mean 51.2±8.7 years, and mean EDSS of 5.8±1.9 were evaluated with DEXA scan. O f these, 17.5% patients were relapsing - remitting (RR) MS, 57.5% were secondary progressive (SP) MS and 25% were primary progressive (PP) MS. Main outcome measure: Proportion of male MS patients with reduced BMD at the lumbar spine and femoral neck. Results: Thirty-two (80%) of our patients had a reduced bone mass of either lumbar spine or the femoral neck; of these 17 patients (42.5%) had osteopenia and 15 patients (37.5%) had osteoporosis. Twenty-o ne per cent (eight out of 38 patients) had vertebral, rib or extremities fractures. Multivariate linear regression analysis indicated that the EDSS (P B-0.0001) and BMI (P =0.0004) were the important factors associated with low BMD at the femoral neck and the EDSS was the important factor (P =0.0017) associated with low BMD at the lumbar spine. The same factors emerged as significantly associated with the corresponding Z scores, which are corrected for age and sex. No clear association between intravenous steroid therapy and BMD was evident in the multivariate analysis. Low levels of 25-hydroxy-vitamin-D were seen in 37.5% of patients. Conclusions: The proportion of male MS patients with reduced bone mass is high and disproportionate to their age and ambulation, consistent with an association between the MS disease process and patho logical bone loss. Increased awareness and bone density screening of male and female MS patients over 40 years of age is warranted.

scholarly journals SAT-361 Familial Hypocalciuric Hypercalcemia Type 3: AP2S1 Mutation

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Sarah Elizabeth Kerut ◽  
Licy L Yanes Cardozo
Keyword(s):  
Vitamin D ◽  
Primary Hyperparathyroidism ◽  
Parathyroid Gland ◽  
Genetic Mutation ◽  
Urinary Calcium ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Dexa Scan ◽  
High Calcium ◽  
History Of ◽  
Type 3

Abstract Background: Familial hypocalciuric hypercalcemia (FHH) type 3 can appear similar to primary hyperparathyroidism and make the diagnosis of etiology of hypercalcemia challenging. Clinical Case: A 45-year-old man with hypertension and glaucoma was evaluated in clinic for hypercalcemia. His calcium was 12.3 mg/dL (8.4–10.2), PTH 41.9 pg/mL (15–65), Vitamin D 14.8 ng/mL (6.6–49) and phosphorus 1.7 mg/dL (2.7–4.5). He denied history of thiazide diuretic use, fragility fracture, nephrolithiasis and family history of calcium disorders. Further workup revealed normal kidney function, undetectable PTH related peptide and dual-energy x-ray absorptiometry (DEXA) scan with a T-score of -3.3 at spine L1-L4, -2.7 at femoral neck and -2.1 at distal one-third forearm. A 24-hour urine collection revealed a urinary calcium of 42.4 mg/24-hour (100–300) and calcium: creatinine clearance ratio of 0.003. Diagnosis of primary hyperparathyroidism was made despite low urinary calcium as this was thought to be due to vitamin D deficiency. Sestamibi scintigraphy and four-dimensional computed tomography did not localize a parathyroid adenoma, however, the patient was sent to surgery for four gland parathyroid exploration for primary hyperparathyroidism in setting of high calcium and young age with evidence of end-organ failure of osteoporosis. During surgery, three large abnormal parathyroid glands were identified and one normal parathyroid gland. Patient had a three-gland parathyroidectomy with intraoperative drop in PTH by 26.5%. Pathology returned as benign parathyroid tissues. After surgery, patient had persistently elevated calcium level of 12.6 mg/dL and an inappropriately non-suppressed PTH. He was then started on bisphosphonate and cinacalcet for osteoporosis and hypercalcemia, respectively and sent for genetic testing of FHH. His CASR gene was negative but his AP2S1 gene was positive which confirmed the diagnosis of FHH type 3. His calcium responded well to cinacalcet and repeat DEXA scan showed stability of bone mineral density in spine and hip after two years of treatment with bisphosphonate therapy. Conclusion: Familial hypocalciuric hypercalcemia type 3 is caused by an inactivating mutation in the AP2S1 gene. This gene encodes the adaptor-related protein complex 2, sigma 1 subunit which is located downstream from calcium-sensing receptor. This genetic mutation can appear similar to primary hyperparathyroidism in that it produces high levels of calcium and PTH and low phosphorus. Hypercalcemia, however, persists despite removal of parathyroid gland. This genetic mutation can be treated with cinacalcet in patients with high levels of calcium (&gt;1 upper limit of normal) or symptoms of hypercalcemia.

scholarly journals MON-373 Low Bone Mineral Density Does Not Equal Osteoporosis: The Finding of XLHR with a Novel Phex Mutation

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Kelvin Tran ◽  
Michael Mortensen ◽  
Ghada Elshimy ◽  
Karyne Lima Vinales ◽  
Ricardo Rafael Correa
Keyword(s):  
Vitamin D ◽  
Genetic Testing ◽  
Hypophosphatemic Rickets ◽  
Mineral Density ◽  
Inherited Disorders ◽  
Femur Fractures ◽  
Vitamin D Levels ◽  
Phex Gene ◽  
History Of ◽  
Fgf 23

Abstract Introduction: X-linked Hypophosphatemic rickets (XLHR) is a rare form of rickets that mainly affects children but, in some cases, it can be missed and not diagnosed until later in life. We present a post-menopausal female that was misdiagnosed with osteoporosis for many years until complete work up was done, and she was found to have osteomalacia due to hypophosphatemia. Clinical case: A 59-year-old female was evaluated following admission to the hospital for a worsening femur fracture on imaging and had received ORIF. She was diagnosed with osteoporosis at the age of 45 and endorses a history of multiple femur fractures from low impact trauma. Despite previous bisphosphonate therapy, she continued to have recurrent fractures.[RC1] She reported no family history of early osteoporosis, but her mother was diagnosed with rickets as a child. Secondary workup for osteoporosis revealed normal 25OH vitamin D, SPEP, TSH, PTH and serum calcium, endomysial antibodies, and 24-hour urine calcium levels. However, the patient had persistently elevated alkaline phosphatase levels (150-200) and low phosphate levels (1.8-2.4). This raised the possibility of Paget’s disease, so a bone scan and lumbar X-ray were obtained which were normal. Given low phosphate levels, fibroblast growth factor (FGF)-23 was obtained and was elevated. This left the differential between tumor-induced osteomalacia (TIO) vs hypophosphatemic rickets. Ga-DOTATE scan and PET scan were negative, so the patient subsequently underwent genetic testing. She was found to have a phosphate regulating endopeptidase homologue (PHEX) gene mutation and was finally diagnosed with XLHR Her PHEX mutation was caused by a novel variant, c.1366 T&gt;C or W456R, which has only been documented once in the literature. The patient was treated with 2 gm per day of phosphate supplementation in divided doses and calcitriol 0.25 mcg once daily which normalized her phosphate and 1,25 vitamin D levels. 1 month later after treatment, she reported significant improvements in bone pain, and her DEXA scans were stable for the following 4 years. Discussion: XLHR is a heterogeneous group of inherited disorders characterized by hypophosphatemia and impaired bone mineralization leading to rickets. It results from mutations affecting the PHEX gene of which more than 300 pathogenic variants have been described. The mutation causes excess FGF-23 which leads to osteomalacia and chronic hypophosphatemia. This condition can be difficult to distinguish from TIO as both present with low phosphate and elevated FGF-23 but can be differentiated with genetic testing. Recognition of the correct diagnosis is prudent to providing correct treatment. The current treatment for XLH is calcitriol and phosphorus replacement. Recently, burosumab was FDA approved in 2018 for treatment in adults.

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