Clinical case report of primary hyperparathyreoidism with fibrocystic osteitis: diagnostic difficulties

Hyperparathyroidism is an endocrine disease characterized by excessive secretion of parathyroid hormone (PTH) by the parathyroid glands. Primary hyperparathyroidism (PHPT) can be diagnosed biochemically with the combination of hypercalcemia and upper-normal or elevated levels of PTH. There are few descriptions of PHPT with normal intact PTH secretion in the literature. The incidence of PHPT among patients with recurrent urolithiasis is 28%. We present a clinical case of diagnosing PHPT in a 64-year-old female patient with rare variant of the disease. Before establishing the diagnosis, the main patient complaints were long-term recurrent nephrolithiasis and nephrocalcinosis. Surgical treatment made it possible to achieve rapid normalization of biochemical parameters of calcium-phosphorus metabolism, increase bone mineral density in the lumbar spine, improve the general condition of the patient. This clinical case demonstrates errors and late diagnosis of PHPT associated with poor knowledge of the manifestations of hyperparathyroidism and its masks. The authors recommend to determine the concentrations of total calcium, albumin, serum levels of PTH in patients with clinical picture of PHPT, in order to exclude the disease.

Hyperparathyroidism is an endocrine disease characterized by excessive secretion of parathyroid hormone (PTH) by the parathyroid glands. Primary hyperparathyroidism (PHPT) can be diagnosed biochemically with the combination of hypercalcemia and upper-normal or elevated levels of PTH. There are few descriptions of PHPT with normal intact PTH secretion in the literature. The incidence of PHPT among patients with recurrent urolithiasis is 2–8%. We present a clinical case of diagnosing PHPT in a 64-year-old female patient with rare variant of the disease. Before establishing the diagnosis, the main patient complaints were long-term recurrent nephrolithiasis and nephrocalcinosis. Surgical treatment made it possible to achieve rapid normalization of biochemical parameters of calcium-phosphorus metabolism, increase bone mineral density in the lumbar spine, improve the general condition of the patient. This clinical case demonstrates errors and late diagnosis of PHPT associated with poor knowledge of the manifestations of hyperparathyroidism and its masks. The authors recommend to determine the concentrations of total calcium, albumin, serum levels of PTH in patients with clinical picture of PHPT, in order to exclude the disease.

Primary hyperparathyroidism (PHPT) is an endocrine disorder of parathyroid glands characterized by excessive secretion of parathyroid hormone (PTH) with an upper normal or elevated blood calcium level. Classical PHPT refers to a symptomatic, multi-system disorder, wich can lead to a significant decrease in the quality of life, disability of patients, and even an increased risk of premature death. Hypercalcemia and the catabolic effect of PTH on various cells are considered as the main pathogenetic mechanisms of the PHPT associated complications. In the last two decades, there has been an increase in the incidence of PHPT, mainly due to the mild forms of the disease, primarily due to the routine calcium screening in North America, Western Europe and, Asia. High prevalence of the disease, as well as the variety of clinical manifestations, cause the attention of different specialists - physicians, rheumatologists, urologists, nephrologists, cardiologists and other doctors. This review cover the main issues of Russian guidelines for the management of PHPT, approved in 2020, including laboratory and instrumental methods, differential diagnosis, surgical and conservative approach, short-term and long-term follow-up. This guidelines also include the recommendations for special groups of patients with hereditary forms of PHPT, parathyroid carcinoma, PHPT during pregnancy.

Primary hyperparathyroidism (PHPT) is an endocrine disorder of parathyroid glands characterized by excessive secretion of parathyroid hormone (PTH) with an upper normal or elevated blood calcium level. Classical PHPT refers to a symptomatic, multi-system disorder, wich can lead to a significant decrease in the quality of life, disability of patients, and even an increased risk of premature death. Hypercalcemia and the catabolic effect of PTH on various cells are considered as the main pathogenetic mechanisms of the PHPT associated complications. In the last two decades, there has been an increase in the incidence of PHPT, mainly due to the mild forms of the disease, primarily due to the routine calcium screening in North America, Western Europe and, Asia. High prevalence of the disease, as well as the variety of clinical manifestations, cause the attention of different specialists - physicians, rheumatologists, urologists, nephrologists, cardiologists and other doctors. This review cover the main issues of Russian guidelines for the management of PHPT, approved in 2020, including laboratory and instrumental methods, differential diagnosis, surgical and conservative approach, short-term and long-term follow-up. This guidelines also include the recommendations for special groups of patients with hereditary forms of PHPT, parathyroid carcinoma, PHPT during pregnancy.

Chapter 56 - Molecular Basis of PTH Overexpression

Molecular Basis of PTH Overexpression

A 32-Year-Old Man With Recurrent Kidney Stones and an Abnormal Chest Radiograph

Primary hyperparathyroidism (PHPT) is a disease of the endocrine system caused by excessive secretion of parathyroid hormone (PTH) and is characterized by a pronounced violation of calcium and phosphorus metabolism. More recently, in Russia, PHPT was detected extremely rarely and often hid under the mask of recurrent urolithiasis, generalized osteoporosis and other pathologies. As a result, patients did not receive adequate treatment, which in a certain percentage of cases led to the development of serious complications.The clinical cases of severe PHPT in postmenopausal women are presented in this article.

The 4 parathyroid glands derive from the third and fourth pharyngeal pouches and descend caudally to the anterior neck. Through the secretion of parathyroid hormone (PTH), the parathyroid glands are primarily responsible for maintaining extracellular calcium and phosphorus concentrations. Hypercalcemia may be distinguished in parathyroid-hypercalcemia and nonparathyroid hypercalcemia. The most common disorders include primary hyperparathyroidism (PHPT), malignancy, granulomatous diseases, and medications. PHPT is a disease characterized by excessive secretion of PTH. PHPT is most commonly due to a single benign parathyroid adenoma (80%) and with multiglandular disease seen in approximately 15-20% of patients. PHPT is due to multiglandular involvement consisting of either multiple adenomas or hyperplasia of all 4 glands (5-10%), and very rarely parathyroid carcinoma (<1%). In most patients the disease is sporadic, without a personal or family history of PHPT. The genetic syndromes associated with PHPT include multiple endocrine neoplasia type 1 (MEN1), MEN2A, and MEN4, hyperparathyroidism-jaw tumor syndrome, familial isolated PHPT, familial hypocalciuric hypercalcemia, and neonatal severe hyperparathyroidism. The asymptomatic clinical presentation is most common in countries where biochemical screening is routine. Conversely, target organ involvement at presentation dominates the clinical landscape of PHPT in other countries, such as China and India, where biochemical screening is not routine practice.

Primary hyperparathyroidism (PHPT) is a significant endocrine disorder characterized by excessive secretion of parathyroid hormone (PTH), leading to hypercalcemia. It is intriguing how the majority of cases are attributed to solitary hyperfunctioning parathyroid adenomas, while a smaller fraction involves multiglandular disease or rarely parathyroid carcinoma. Ectopic parathyroid adenomas, though less common, pose a considerable challenge in diagnosis and surgical management due to their aberrant location. It is crucial to consider the possibility of multiglandular disease or ectopic glands when preoperative localization fails or when repeat surgery is necessary. Moreover, the mention of intravagal parathyroid adenomas emphasizes the need for vigilance in considering rare ectopic locations during both diagnosis and surgical intervention. These cases underscore the importance of continuous advancements in imaging modalities such as four-dimensional computed tomography scans or 18F Choline Pet CT to enhance localization and visualization, ultimately improving surgical outcomes. Overall, these clinical vignettes shed light on the diverse presentations and challenges in managing PHPT, emphasizing the importance of a multidisciplinary approach integrating clinical, radiological, and surgical expertise to optimize patient care. We describe a patient with persistent primary hyperparathyroidism who underwent one unsuccessful surgical procedure due to an intravagal parathyroid adenoma.

Primary hyperparathyroidism (pHPT) is a prevalent disorder of dysregulated calcium homeostasis, marked by excessive secretion of parathyroid hormone (PTH), which results in alterated calcemia and renal and/or skeletal complications. Most patients are diagnosed before experiencing overt clinical symptoms, often as a result of blood tests performed for other disorders. When symptoms do manifest, they are associated with dysfunction of the parathyroid glands. Surgical treatment is considered the first choice and the only curative treatment for pHPT, offering advantages for both symptomatic and asymptomatic patients. The aim of this study is to report our experience in the management of 6 selected complex cases, which often require a multidisciplinary approach due to the lack of established diagnostic and therapeutic algorithms and the variability of clinical presentation and atypical parathyroid adenoma location. We present a series of cases examining the various treatment approaches in six distinct patients: one patient with parathyroid carcinoma with concomitant parathyroid adenoma, a case involving mediastinal parathyroidectomy, a case with an intrathymic parathyroid adenoma, two cases of recurrent pHPT, and one case of hereditary pHPT in Multiple Endocrine Neoplasia (MEN) 1 syndrome. The combination of parathyroid ultrasound and Tc-99m sestamibi scintigraphy is effective for localizing parathyroid adenomas in most patients. Additional imaging, such as single photon emission computed tomography/computed tomography (SPECT/CT) or 18F-Fluorocholine positron emission tomography/computed tomography (18F-FCH PET/CT), may be necessary in other cases. Intraoperative parathyroid hormone monitoring is valuable for detecting double adenomas in patients affected by hereditary familial hyperparathyroidism from MEN 1. Several studies highlight that the surgeon's expertise is the most critical determinant of a safe and successful surgical outcome.

BackgroundPrimary hyperparathyroidism is a rare disease characterized by excessive secretion of parathyroid hormone from parathyroid adenoma, hyperplasia, or malignancy. The clinical symptoms of the condition are those of hypercalcemia. Although the lesions are commonly located in the neck region, in about 1–2 % of cases, the lesions are ectopically located within the mediastinum, where surgical excision using the cervical approach is difficult. The principal treatment of the condition is surgical excision of the lesion. However, some patients require additional surgery because of recurrence due to intraoperative dissemination. Therefore, safe and accurate excision is essential for the treatment. We reviewed the surgical treatment used at our institution for mediastinal parathyroid adenoma that caused primary hyperparathyroidism.MethodThe subjects were four patients with primary hyperparathyroidism due to mediastinal parathyroid adenoma who underwent surgery at our institution within a period of 10 years, between January 2005 and December 2014. All of the patients were female, with a mean age of 64.5 years (range, 55–74 years). The examined variables included background factors, clinical condition, surgical method, and clinical outcome.ResultIn all of the patients, primary hyperparathyroidism was detected with symptoms of hypercalcemia. Laboratory tests revealed a mean serum calcium level of 11.85 mg/dL (range, 11.2–13.2 mg/dL) and a mean parathyroid hormone (intact PTH) level of 304.8 pg/mL (range, 126–586 pg/mL), indicating elevated levels for all patients. Chest computed tomography (CT) revealed tumors with a mean diameter of 2.8 cm (range, 10–45 mm) in the anterior mediastinum in all of the patients. On 99mTC-methoxy isobutyl isonitrile (MIBI) scintigraphy, abnormal accumulation was observed in all of the patients. Regarding the surgical methods, median sternotomy was used for three cases and upper partial sternotomy was used for one case. The surgery was safely and accurately performed, without postoperative complications. After surgery, the serum calcium levels immediately returned to normal and the symptoms improved.ConclusionWe performed excision safely and accurately in all of the patients. In tumor identification, 99mTC-MIBI scintigraphy was useful. Accurate tumor identification and selection of the optimal surgical method are important for prevention of recurrence due to intraoperative dissemination.

Hypercalcemia is most commonly associated with primary hyperparathyroidism and malignancy due to parathyroid hormone-related protein (PTHrP). Primary hyperparathyroidism is characterized by excessive secretion of parathyroid hormone in association with hypercalcemia. The modern presentation of primary hyperparathyroidism is as an asymptomatic disorder. Diagnostic tools such as bone mineral densitometry, bone histomorphometry, and the measurement of markers of bone turnover, as well as other clinical assessments, have all led to the development of guidelines to help direct decisions for parathyroid surgery or for medical management. Hypercalcemia of malignancy is often distinguishable from primary hyperparathyroidism by the presence of an obvious tumor. Primary hyperparathyroidism is excluded by the immunoradiometric assay for parathyroid hormone, which is suppressed. A number of clinical characteristics of hypercalcemia of malignancy can be explained on the basis of the tumor product, PTHrP, which directly causes hypercalcemia in many cases. Assays for PTHrP show elevated levels in patients in whom hypercalcemia is associated with the classic syndrome. Recent recognition that PTHrP is found ubiquitously in virtually all normal tissues and that it is possibly involved in a number of normal physiologic processes, apart from its pathologic role, provides an exciting basis for future research.

Chapter 60 - Molecular Basis of PTH Overexpression

Primary hyperparathyroidism (PHPT) usually presents with symptoms of hypercalcemia which is due to excessive secretion of parathyroid hormone (PTH). Surgical removal of the secreting tumor either adenoma or hyperplasia remains the mainstay of treatment. Around 2% to 25% of the lesions are located in the mediastinum. We reviewed our institution's surgical treatment and approach to mediastinal parathyroid adenoma (MPA). We retrospectively reviewed the demography, comorbidities, clinical presentation, surgical approach, and outcome for patients in our institution who underwent surgery for MPA from September 2019 until August 2023.All patients with MPA who underwent surgery were included in the review. The surgical approaches used were both video-assisted thoracoscopic surgery (VATS) and median sternotomy. There were three patients with PHPT due to MPA who underwent surgery. Out of the three patients, two were female. The mean age was 48.6 years old, ranging from 16 to 66 years old. All of them presented with PHPT with a raised mean serum calcium level of 3.52 mmol/L (range: 2.84-4.38 mmol/L) and a mean PTH or intact PTH (iPTH) level of 274.6 pmol/L (range: 8.87-695 pmol/L). Ultrasound of the neck was performed for all the patients before further investigations were done to look for the ectopic parathyroid gland. Computed tomography (CT) of the thorax showed mediastinal parathyroid mass in all the patients with an average size of 2.4 x 2.1 x 2.3cm (range: 1.3-3.8cm), which showed uptake in 99mTc-hexakis-2-methoxyisobuthylisonitrile (Tc99m-MIBI) scintigraphy. VATSwas performed for two cases and an upper partial sternotomy was performed for one patient. Postoperatively, iPTH and serum calcium levels were reduced significantly for all patients. There were no post-operative complications in our study. Comprehensive diagnostic imaging and surgical planning are important for the localization of MPA. In our review, all cases were promptly diagnosed and underwent surgery without complication.