scholarly journals Primary Hyperparathyroidism in Sickle Cell Disease: An Unknown Complication of the Disease in Adulthood

2020 ◽  
Vol 9 (2) ◽  
pp. 308
Author(s):  
Elsa Denoix ◽  
Charlène Bomahou ◽  
Lorraine Clavier ◽  
Jean-Antoine Ribeil ◽  
François Lionnet ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Sickle Cell ◽  
Serum Calcium ◽  
Elevated Serum ◽  
Young Patients ◽  
Cell Disease ◽  
Mineral Density ◽  
Cervical Surgery

Primary hyperparathyroidism (pHPT) is the third most common endocrine disorder and usually affects patients between 60 and 70 years of age. To our knowledge, this condition has never been studied in young patients with sickle cell disease (SCD). Our objective was to describe the clinical and biological characteristics of pHPT in adult patients with SCD and its management. We conducted a retrospective study that included SCD patients who were diagnosed with pHPT in four SCD referral centers. pHPT was defined by the presence of elevated serum calcium levels with inappropriate normal or increased parathyroid hormone (PTH) serum levels or histopathological evidence of parathyroid adenoma or hyperplasia. Patients with severe renal impairment (GFR <30 mL/min) were excluded. Twenty-eight patients (18 women, 64%; 22 homozygous genotype, 79%) were included. The median age at pHPT diagnosis was 41 years (interquartile range –IQR- 31.5–49.5). The median serum calcium and PTH concentration were, respectively, 2.62 mmol/L (IQR 2.60–2.78) and 105 pg/mL (IQR 69–137). Bone mineral density (BMD) revealed very low BMD (≤−2.5 SD) in 44% of patients explored (vs. 12.5% among 32 SCD patients matched for SCD genotype, sex, age, and BMI, p = 0.03). Fourteen patients (50%) received surgical treatment, which was successful in all cases, but four of these patients (29%) presented with pHPT recurrence after a median time of 6.5 years. Three of these patients underwent a second cervical surgery that confirmed the presence of a new parathyroid adenoma. These results suggest that SCD is a condition associated with pHPT in young subjects. SCD patients with pHPT have a high risk of very low BMD. A diagnosis of pHPT should be suspected in the presence of mild hypercalcemia or low BMD in SCD patients.

scholarly journals Heterogeneity of respiratory disease in children and young adults with sickle cell disease

Thorax ◽  
2017 ◽  
Vol 73 (6) ◽  
pp. 575-577 ◽  
Author(s):  
Alan Lunt ◽  
Lucy Mortimer ◽  
David Rees ◽  
Sue Height ◽  
Swee Lay Thein ◽  
...  
Keyword(s):  
Young Adults ◽  
Sickle Cell Disease ◽  
Lung Disease ◽  
Respiratory Disease ◽  
Sickle Cell ◽  
Elevated Serum ◽  
Serum Lactate Dehydrogenase ◽  
Cell Disease ◽  
Restrictive Lung Disease ◽  
Children And Young Adults

To detect and characterise different phenotypes of respiratory disease in children and young adults with sickle cell disease (SCD), 11 lung function and haematological biomarkers were analysed using k-means cluster analysis in a cohort of 114 subjects with SCD aged between 5 and 27 years. Three clusters were detected: cluster 1 had elevated pulmonary capillary blood volume, mixed obstructive/restrictive lung disease, hypoxia and moderately severe anaemia; cluster 2 were older patients with restrictive lung disease; and cluster 3 were younger patients with obstructive lung disease, elevated serum lactate dehydrogenase and bronchodilator reversibility. These results may inform more personalised management strategies to improve outcomes.

scholarly journals Height-corrected low bone density associates with severe outcomes in sickle cell disease: SCCRIP cohort study results

2019 ◽  
Vol 3 (9) ◽  
pp. 1476-1488 ◽  
Author(s):  
Oyebimpe O. Adesina ◽  
James G. Gurney ◽  
Guolian Kang ◽  
Martha Villavicencio ◽  
Jason R. Hodges ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
African American ◽  
Cohort Study ◽  
Sickle Cell Disease ◽  
Children And Adolescents ◽  
Sickle Cell ◽  
Chronological Age ◽  
Cell Disease ◽  
Mineral Density ◽  
Z Scores

AbstractLow bone mineral density (BMD) disproportionately affects people with sickle cell disease (SCD). Growth faltering is common in SCD, but most BMD studies in pediatric SCD cohorts fail to adjust for short stature. We examined low BMD prevalence in 6- to 18-year-olds enrolled in the Sickle Cell Clinical Research and Intervention Program (SCCRIP), an ongoing multicenter life span SCD cohort study initiated in 2014. We calculated areal BMD for chronological age and height-adjusted areal BMD (Ht-aBMD) z scores for the SCCRIP cohort, using reference data from healthy African American children and adolescents enrolled in the Bone Mineral Density in Childhood Study. We defined low BMD as Ht-aBMD z scores less than or equal to –2 and evaluated its associations with demographic and clinical characteristics by using logistic regression analyses. Of the 306 children and adolescents in our study cohort (mean age, 12.5 years; 50% female; 64% HbSS/Sβ0-thalassemia genotype; 99% African American), 31% had low areal BMD for chronological age z scores and 18% had low Ht-aBMD z scores. In multivariate analyses, low Ht-aBMD z scores associated with adolescence (odds ratio [OR], 7.7; 95% confidence interval [CI], 1.94-30.20), hip osteonecrosis (OR, 4.0; 95% CI, 1.02-15.63), chronic pain (OR, 10.4; 95% CI, 1.51-71.24), and hemoglobin (OR, 0.74; 95% CI, 0.57-0.96). Despite adjusting for height, nearly 20% of this pediatric SCD cohort still had very low BMD. As the SCCRIP cohort matures, we plan to prospectively evaluate the longitudinal relationship between Ht-aBMD z scores and markers of SCD severity and morbidity.

Bone Mineral Density in Sickle Cell Disease Patients

2014 ◽  
Vol 65 (1-3) ◽  
pp. 151-160
Author(s):  
Galila M. Mokhtar ◽  
Azza A. Tantawy ◽  
Ahmed E. Hamed ◽  
Amira A. Adly ◽  
Eman A. Ismail ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Bone Mineral ◽  
Cell Disease ◽  
Mineral Density

scholarly journals SAT-369 Parathyroid Microadenomas as a Cause of Normocalcemic Primary Hyperparathyroidism (PHPT) and a Surgical Challenge

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Tiffany Nguyen ◽  
Marc D Coltrera ◽  
Jing H Chao
Keyword(s):  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Serum Calcium ◽  
Compression Fracture ◽  
Extended Period ◽  
Significant Loss ◽  
Mineral Density ◽  
Dxa Scan ◽  
Normal Bone Mineral Density ◽  
Pth Level

Abstract Background: Patients with normocalcemic primary hyperparathyroidism (PHPT) share similar risks of osteoporosis and nephrolithiasis with patients having hypercalcemic PHPT. The prevalence and natural history of normocalcemic PHPT is not well defined. Parathyroid microadenomas weighing &lt; 100 mg may present as special clinical challenges in both the diagnosis and surgical resection. Clinical Case: A 55-year-old woman presented for an evaluation of osteoporosis following a non-traumatic L1 compression fracture at the age of 50 years. Noting an initial serum calcium of 10 mg/dL, we diagnosed her with normocalcemic PHPT based on a concurrent parathyroid hormone (PTH) level of 112 pg/mL (12-88 pg/mL) and a lack of other causes for an elevated PTH, including a normal eGFR, serum 25-hydroxyvitamin D, 24-hour urine calcium, and autoantibodies for celiac disease. Initial dual-energy x-ray absorptiometry (DXA) scan from 2015 showed normal bone mineral density (BMD) and T-scores in the L-spine, total hip, and femoral neck. Neck imagings, including ultrasound, sestamibi scan, and 4D CT, failed to localize a parathyroid adenoma. In the absence of a target and indications for parathyroidectomy other than osteoporosis, she was treated with bisphosphonates. While her serum calcium remained normal (9.6-10.2 mg/dL) despite an elevated PTH level (92-116 pg/mL) over a two-year period, subsequent DXA scans showed a significant loss in BMD on the bisphosphonates, prompting a peripheral DXA scan, which revealed severe osteoporosis at the distal third of the forearm (BMD 0.450 g/cm2, T-score -3.7), consistent with PTH-associated bone resorption. Following a 4-gland exploration with removal of 2 parathyroid microadenomas (63 and 100 mg), intra- and post-operative PTH levels normalized. She now awaits a repeat DXA scan at 1 year after a successful parathyroidectomy. Conclusion: Although many patients with normocalcemic PHPT may progress to develop hypercalcemia, some remain normocalcemic over an extended period. We report a patient who maintained normocalcemia for over 2 years. To correctly establish the diagnosis of normocalcemic PHPT, a comprehensive evaluation must be performed to exclude secondary causes of an elevated PTH (renal insufficiency, hypovitaminosis D, hypercalciuria, and malabsorption). Since significant osteoporosis may be preferentially seen in the cortical bone, BMD at the distal 1/3 of forearm should be evaluated in addition to the L-spine, hips and femoral necks. When a parathyroid adenoma cannot be localized in patients with normocalcemic PHPT, a careful 4-gland exploration for parathyroid microadenoma(s), paying special attention to the size, texture, and shape of the glands, and guided by intraoperative PTH levels, ensures the successful removal of the culprit gland(s).

Retinal Artery Occlusion in Young Patients: A 6-Year Review

2019 ◽  
Vol 3 (2) ◽  
pp. 63-68 ◽  
Author(s):  
Tian Xia ◽  
Marco A. Zarbin ◽  
Neelakshi Bhagat
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Uterine Cancer ◽  
Young Patients ◽  
Retrospective Chart Review ◽  
Uncontrolled Hypertension ◽  
Cell Disease ◽  
Imaging Evaluation ◽  
Number Of Patients ◽  
Retinal Artery

Purpose: This article describes the characteristics, management, and etiology of retinal artery occlusions (RAOs) in young patients. Methods: A retrospective chart review of patients <50 years of age with ophthalmic and RAOs was conducted. Data were collected on demographics, clinical presentation, laboratory and imaging evaluation, management, and outcome. Results: Seventeen eyes of 15 patients younger than 50 (mean age, 34±8 years; 71% male, 29% female) with RAOs were identified. AOs included: 8 (47%) central RAOs (CRAOs), 5 (29%) branch RAOs (BRAOs), 3 (18%) ophthalmic AOs (OAOs), and 1 (6%) combined CRAO and vein occlusion (CRAO/CRVO). Logarithm of the minimum angle of resolution visual acuity (VA) at presentation was 2.6±4 (Snellen range 20/15 to no light perception). Systemic diseases in patients with BRAO included Susac disease (n = 1), sickle cell disease (n = 2), patent foramen ovale (PFO) (n = 1), and HIV (n = 1). CRAO was diagnosed in 4 patients after invasive surgery (3 after neurosurgery and 1 after cardiac surgery). Other patients had hypertension (n = 3), hypercoagulability due to uterine cancer (n = 1), and PFO (n = 1). OAOs were noted in 1 patient with Saturday night retinopathy and in 1 with ruptured internal carotid aneurysm at the level of the ophthalmic artery. Two eyes with CRAO were treated with tissue plasminogen activator (1 intraophthalmic artery through catheterization and 1 intravenously) without any change in final VA. In these patients, VA remained poor (VA hand motions – counting fingers) at 6 months or greater follow-up visits. Conclusion: RAO in young patients is uncommon. In this series, one-fourth of occlusions were seen during the perioperative period. A significant number of patients had concurrent uncontrolled hypertension. Other associated systemic findings included PFO, hypercoagulability, sickle cell disease, Susac disease, and HIV.

scholarly journals Serum Calcium, Parathyroid Hormone, and Vitamin D Status in Children and Young Adults with Sickle Cell Disease

1993 ◽  
Vol 30 (1) ◽  
pp. 45-51 ◽  
Author(s):  
S Mohammed ◽  
S Addae ◽  
S Suleiman ◽  
F Adzaku ◽  
S Annobil ◽  
...  
Keyword(s):  
Vitamin D ◽  
Parathyroid Hormone ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Serum Calcium ◽  
Inverse Correlation ◽  
Cell Disease ◽  
Normal Range ◽  
Hydroxyvitamin D ◽  
Significant Difference

The concentrations of serum calcium, parathyroid hormone (PTH), 25 Hydroxyvitamin D (25OHD), and 1,25 Dihydroxyvitamin D (1,25(OH)2D) were determined in 99 Saudi patients with sickle cell disease and in 104 matching healthy controls. Serum calcium and 25OHD were significantly lower in the patients, with 14% and 12% of them had serum calcium and 25OHD concentrations, respectively, below the normal range. PTH was significantly higher in the patients, with 31% having values above the normal range. There was no significant difference between patients and controls in regard to 1,25(OH)2D. There was a significant inverse correlation of 25OHD with PTH and a direct correlation of PTH with 1,25(OH)2D. Dietary intake of calcium and vitamin D was adequate in both patients and controls. The results indicate that sickle cell patients have hypocalcaemic tendency associated with supranormal PTH, and imply impaired intestinal absorption of calcium and vitamin D leading to a disturbed calcium metabolism which might contribute to the skeletal changes seen in sickle cell disease.

scholarly journals G409(P) An evaluation of the transition to adult care for young patients with sickle cell disease

2015 ◽  
Vol 100 (Suppl 3) ◽  
pp. A168.2-A169
Author(s):  
H Sivaguru ◽  
S Mohun Kemp ◽  
R Crowley ◽  
G Hann ◽  
DA Yardumian ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Young Patients ◽  
Transition To Adult Care ◽  
Cell Disease ◽  
Adult Care

Failure Rates of Young Patients with Sickle Cell Disease on a Hearing Screening Test

1997 ◽  
Vol 84 (2) ◽  
pp. 434-434 ◽  
Author(s):  
Betholyn Gentry ◽  
Priscilla Davis ◽  
Jess Dancer
Keyword(s):  
Hearing Loss ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Age Groups ◽  
Young Patients ◽  
Prevalence Rates ◽  
Cell Disease ◽  
Rehabilitation Process ◽  
Young Subjects ◽  
Audiologic Rehabilitation

100 young subjects with sickle cell disease were screened for hearing loss at the Sickle Cell Clinic at Arkansas Children's Hospital. 12% of the sample failed, which is higher than prevalence rates for the age groups suggest. Routine screening of hearing is suggested as the first step in the audiologic rehabilitation process.

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