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Nature Reviews. Disease Primers May 2016Primary hyperparathyroidism (PHPT) is a common disorder in which parathyroid hormone (PTH) is excessively secreted from one or more of the four parathyroid glands. A... (Review)
Review
Primary hyperparathyroidism (PHPT) is a common disorder in which parathyroid hormone (PTH) is excessively secreted from one or more of the four parathyroid glands. A single benign parathyroid adenoma is the cause in most people. However, multiglandular disease is not rare and is typically seen in familial PHPT syndromes. The genetics of PHPT is usually monoclonal when a single gland is involved and polyclonal when multiglandular disease is present. The genes that have been implicated in PHPT include proto-oncogenes and tumour-suppressor genes. Hypercalcaemia is the biochemical hallmark of PHPT. Usually, the concentration of PTH is frankly increased but can remain within the normal range, which is abnormal in the setting of hypercalcaemia. Normocalcaemic PHPT, a variant in which the serum calcium level is persistently normal but PTH levels are increased in the absence of an obvious inciting stimulus, is now recognized. The clinical presentation of PHPT varies from asymptomatic disease (seen in countries where biochemical screening is routine) to classic symptomatic disease in which renal and/or skeletal complications are observed. Management guidelines have recently been revised to help the clinician to decide on the merits of a parathyroidectomy or a non-surgical course. This Primer covers these areas with particular attention to the epidemiology, clinical presentations, genetics, evaluation and guidelines for the management of PHPT.
Topics: Anxiety; Asymptomatic Diseases; Black People; Fatigue; Humans; Hypercalcemia; Hyperparathyroidism, Primary; Irritable Mood; Magnetic Resonance Imaging; Muscle Weakness; Parathyroid Hormone; Parathyroid Neoplasms; Parathyroidectomy; Sleep Wake Disorders; Somatoform Disorders
PubMed: 27194212
DOI: 10.1038/nrdp.2016.33 -
Journal of Bone and Mineral Research :... Dec 2022This narrative report summarizes diagnostic criteria for hypoparathyroidism and describes the clinical presentation and underlying genetic causes of the nonsurgical...
This narrative report summarizes diagnostic criteria for hypoparathyroidism and describes the clinical presentation and underlying genetic causes of the nonsurgical forms. We conducted a comprehensive literature search from January 2000 to January 2021 and included landmark articles before 2000, presenting a comprehensive update of these topics and suggesting a research agenda to improve diagnosis and, eventually, the prognosis of the disease. Hypoparathyroidism, which is characterized by insufficient secretion of parathyroid hormone (PTH) leading to hypocalcemia, is diagnosed on biochemical grounds. Low albumin-adjusted calcium or ionized calcium with concurrent inappropriately low serum PTH concentration are the hallmarks of the disease. In this review, we discuss the characteristics and pitfalls in measuring calcium and PTH. We also undertook a systematic review addressing the utility of measuring calcium and PTH within 24 hours after total thyroidectomy to predict long-term hypoparathyroidism. A summary of the findings is presented here; results of the detailed systematic review are published separately in this issue of JBMR. Several genetic disorders can present with hypoparathyroidism, either as an isolated disease or as part of a syndrome. A positive family history and, in the case of complex diseases, characteristic comorbidities raise the clinical suspicion of a genetic disorder. In addition to these disorders' phenotypic characteristics, which include autoimmune diseases, we discuss approaches for the genetic diagnosis. © 2022 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
Topics: Humans; Calcium; Hypocalcemia; Hypoparathyroidism; Parathyroid Hormone
PubMed: 36375809
DOI: 10.1002/jbmr.4667 -
Radiologia 2022Radiofrequency ablation is a well-known, safe, and effective method for treating benign thyroid nodules and recurring thyroid cancer as well as parathyroid adenomas that... (Review)
Review
Radiofrequency ablation is a well-known, safe, and effective method for treating benign thyroid nodules and recurring thyroid cancer as well as parathyroid adenomas that has yielded promising results in recent years. Since the Korean Society of Thyroid Radiology introduced the devices and the basic techniques for radiofrequency ablation in 2012, radiofrequency ablation has been approved all over the world and both the devices and techniques have improved. This review aims to instruct interventional radiologists who are doing or intend to start doing radiofrequency ablation of thyroid and parathyroid lesions, as well as thyroid and parathyroid specialists who provide pre- and post-operative care, in the training, execution, and quality control for radiofrequency ablation of thyroid nodules and parathyroid adenomas to optimize the efficacy and safety of the treatment.
Topics: Humans; Parathyroid Diseases; Parathyroid Neoplasms; Radiofrequency Ablation; Thyroid Nodule
PubMed: 36030086
DOI: 10.1016/j.rxeng.2022.01.002 -
Current Osteoporosis Reports Jun 2017This review summarizes studies into the permissive role of T cells in the bone catabolic effects of hyperparathyroidism and parathyroid hormone (PTH). (Review)
Review
PURPOSE OF REVIEW
This review summarizes studies into the permissive role of T cells in the bone catabolic effects of hyperparathyroidism and parathyroid hormone (PTH).
RECENT FINDINGS
Work in animals combined with recent translational studies in humans now highlight the potent amplificatory action of T cells on PTH-induced bone resorption. Mechanistic animal studies reveal a complex pathway by which PTH exploits natural self-renewal functions of CD4 T cells, to drive TNFα production that promotes formation of IL-17A secreting Th17 T cells. TNFα and IL-17 further amplify osteoblastic receptor activator of NF-κB ligand (RANKL) production and down-modulate osteoprotegerin (OPG), establishing conditions propitious for osteoclastic bone resorption. These findings are consistent with, and add to, the traditional view of PTH-induced bone loss involving only osteoblast-lineage cells. T cells potently amplify traditional pathways and provide permissive costimulatory signals to bone marrow stromal cells, facilitating the development of an increased RANKL/OPG ratio favourable to bone resorption and bone loss.
Topics: Bone Resorption; CD4-Positive T-Lymphocytes; Humans; Hyperparathyroidism; Interleukin-17; Osteoclasts; Osteoprotegerin; Parathyroid Diseases; Parathyroid Hormone; RANK Ligand; T-Lymphocytes; Th17 Cells; Tumor Necrosis Factor-alpha
PubMed: 28421466
DOI: 10.1007/s11914-017-0359-y -
Journal of Internal Medicine Dec 2016Primary hyperparathyroidism (PHPT), due to parathyroid tumours, may occur as part of a complex syndrome or as an isolated (nonsyndromic) disorder, and both forms can... (Review)
Review
Primary hyperparathyroidism (PHPT), due to parathyroid tumours, may occur as part of a complex syndrome or as an isolated (nonsyndromic) disorder, and both forms can occur as familial (i.e. hereditary) or nonfamilial (i.e. sporadic) disease. Syndromic PHPT includes multiple endocrine neoplasia (MEN) types 1 to 4 (MEN1 to MEN4) and the hyperparathyroidism-jaw tumour (HPT-JT) syndrome. Syndromic and hereditary PHPT are often associated with multiple parathyroid tumours, in contrast to sporadic PHPT, in which single parathyroid adenomas are more common. In addition, parathyroid carcinomas may occur in ~15% of patients with the HPT-JT syndrome. MEN1 is caused by abnormalities of the MEN1 gene which encodes a tumour suppressor; MEN2 and MEN3 are due to mutations of the rearranged during transfection (RET) proto-oncogene, which encodes a tyrosine kinase receptor; MEN4 is due to mutations of a cyclin-dependent kinase inhibitor (CDNK1B); and HPT-JT is due to mutations of cell division cycle 73 (CDC73), which encodes parafibromin. Nonsyndromic PHPT, which may be hereditary and referred to as familial isolated hyperparathyroidism, may also be due to MEN1, CDC73 or calcium-sensing receptor (CASR) mutations. In addition, ~10% of patients presenting below the age of 45 years with nonsyndromic, sporadic PHPT may have MEN1, CDC73 or CASR mutations, and overall more than 10% of patients with PHPT will have a mutation in one of 11 genes. Genetic testing is available and of value in the clinical setting, as it helps in making the correct diagnosis and planning the management of these complex disorders associated with parathyroid tumours.
Topics: Genetic Therapy; Humans; Hypercalcemia; Hyperparathyroidism, Primary; Parathyroid Neoplasms; Proto-Oncogene Mas
PubMed: 27306766
DOI: 10.1111/joim.12523 -
Cancer Dec 2014In the Western world, primary hyperparathyroidism is now a relatively common disorder that is diagnosed in 0.7% of the general population and in 2% of postmenopausal... (Review)
Review
In the Western world, primary hyperparathyroidism is now a relatively common disorder that is diagnosed in 0.7% of the general population and in 2% of postmenopausal women. Although patients today typically present with less severe manifestations of disease, the evaluation and management of patients with parathyroid disease remains challenging. Primary hyperparathyroidism is a complex disease process that requires careful diagnosis and thoughtful medical and surgical management. The surgical management of patients with persistent or recurrent disease, inherited primary hyperparathyroidism syndromes, and parathyroid carcinoma is particularly challenging. High-quality imaging and reliable intraoperative adjuncts are critical to success.
Topics: Adenoma; Humans; Hyperparathyroidism, Primary; Parathyroid Glands; Parathyroid Neoplasms; Parathyroidectomy; Radiopharmaceuticals; Technetium Tc 99m Sestamibi; Tomography, Emission-Computed, Single-Photon; Ultrasonography
PubMed: 25042934
DOI: 10.1002/cncr.28891 -
Endocrine Reviews Sep 2023Recent data suggest an increase in the overall incidence of parathyroid disorders, with primary hyperparathyroidism (PHPT) being the most prevalent parathyroid disorder....
Recent data suggest an increase in the overall incidence of parathyroid disorders, with primary hyperparathyroidism (PHPT) being the most prevalent parathyroid disorder. PHPT is associated with morbidities (fractures, kidney stones, chronic kidney disease) and increased risk of death. The symptoms of PHPT can be nonspecific, potentially delaying the diagnosis. Approximately 15% of patients with PHPT have an underlying heritable form of PHPT that may be associated with extraparathyroidal manifestations, requiring active surveillance for these manifestations as seen in multiple endocrine neoplasia type 1 and 2A. Genetic testing for heritable forms should be offered to patients with multiglandular disease, recurrent PHPT, young onset PHPT (age ≤40 years), and those with a family history of parathyroid tumors. However, the underlying genetic cause for the majority of patients with heritable forms of PHPT remains unknown. Distinction between sporadic and heritable forms of PHPT is useful in surgical planning for parathyroidectomy and has implications for the family. The genes currently known to be associated with heritable forms of PHPT account for approximately half of sporadic parathyroid tumors. But the genetic cause in approximately half of the sporadic parathyroid tumors remains unknown. Furthermore, there is no systemic therapy for parathyroid carcinoma, a rare but potentially fatal cause of PHPT. Improved understanding of the molecular characteristics of parathyroid tumors will allow us to identify biomarkers for diagnosis and novel targets for therapy.
Topics: Humans; Adult; Hyperparathyroidism, Primary; Parathyroid Neoplasms; Parathyroidectomy; Genetic Testing; Renal Insufficiency, Chronic
PubMed: 36961765
DOI: 10.1210/endrev/bnad009 -
Methodist DeBakey Cardiovascular Journal 2017The parathyroid glands are critical to maintaining calcium homeostasis through actions of parathyroid hormone (PTH). Recent clinical and molecular research has shown... (Review)
Review
The parathyroid glands are critical to maintaining calcium homeostasis through actions of parathyroid hormone (PTH). Recent clinical and molecular research has shown that direct and indirect actions of PTH also affect the heart and vasculature through downstream actions of G protein-coupled receptors in the myocardium and endothelial cells. Patients with disorders of the parathyroid gland have higher incidences of hypertension, arrhythmias, left ventricular hypertrophy, heart failure, and calcific disease which translate into increased cardiac morbidity and mortality. Importantly, clinical research also suggests that early treatment of parathyroid disorders through medical or surgical management may reverse cardiovascular remodeling and mitigate cardiac risk factors.
Topics: Heart; Heart Diseases; Humans; Parathyroid Diseases; Parathyroid Glands; Prognosis; Risk Assessment; Risk Factors
PubMed: 28740581
DOI: 10.14797/mdcj-13-2-49 -
Journal of Bone and Mineral Research :... Nov 2022
Topics: Humans; Parathyroid Diseases; Parathyroid Neoplasms
PubMed: 36223904
DOI: 10.1002/jbmr.4718 -
California Medicine Sep 1949Because of the variable and vague clinical symptoms of the disease, diagnosis of hyperparathyroidism may be missed or delayed.Presenting symptoms and findings may be...
Because of the variable and vague clinical symptoms of the disease, diagnosis of hyperparathyroidism may be missed or delayed.Presenting symptoms and findings may be localized to the urological system or to the skeletal framework, with indications of abnormal blood calcium levels.In any case in which the patient's only complaints are malaise, lassitude, or progressive weakness, and in which routine laboratory findings are inconclusive, the blood calcium level should be determined. While not in itself diagnostic, a high level of calcium in the blood will lead to further investigation such as skeletal x-ray studies and blood phosphorus and serum alkaline phosphatase determinations. Vigilance postoperatively to forestall tetany is of great importance.
Topics: Humans; Hyperparathyroidism; Parathyroid Diseases; Tetany
PubMed: 18137218
DOI: No ID Found