Clinical Manifestations Of Primary Hyperparathyroidism Research Articles

Сложности диагностики первичного гиперпаратиреоза у пациента с эктопированной в средостение аденомой околощитовидной железы и полиоссальной фиброзно-кистозной остеодистрофией

Objective of the Paper: To demonstrate a rare variant of primary hyperparathyroidism in a patient with mediastinal ectopic parathyroid adenoma and polyossal fibrocystic osteodystrophy using a clinical example. Key points. Fibrocystic osteodystrophy is a specific manifestation of primary hyperparathyroidism, which in modern conditions belongs to the casuistically rare. Ectopia of the parathyroid gland into the mediastinum also refers to rare variants of the location of this organ. Our patient's attention is drawn to the poor clinical picture with the rapid development of bone changes. Conclusion. The variety of clinical manifestations of primary hyperparathyroidism, low awareness and alertness of doctors of related specialties in relation to this disease leads to an increase in the time of diagnostic search, the formation of incorrect diagnostic and therapeutic concepts. Determination of plasma calcium level is sufficient, in most cases, to exclude or confirm the diagnosis of primary hyperparathyroidism. Keywords: primary hyperparathyroidism, parathyroid adenoma, ectopic parathyroid adenoma, osteitis fibrosa cystica, brown tumor.

Are Non-Coding RNAs Useful Biomarkers in Parathyroid Tumorigenesis?

Tumors of the parathyroid glands are common endocrine diseases almost always characterized by parathyroid hormone hypersecretion that determines the clinical manifestations of primary hyperparathyroidism, such as fatigue, kidney problems, weakness, brittle bones, and other symptoms. Most parathyroid neoplasia are benign adenomas, although rare malignant forms have been described. They are heterogeneous in terms of clinical presentation and the associated signs and symptoms overlap with those of disease and aging. Furthermore, most patients with hypercalcemia are discovered during routine blood tests for other reasons. Surgical removal is considered the main therapeutic option to cure these endocrine tumors and, therefore, innovative therapeutic approaches are actively required. Recently, a growing number of studies have suggested that alterations to the epigenetic mechanisms could play a pivotal role in parathyroid tumorigenesis. Most of the attention has been focused on non-coding RNAs (ncRNAs) (i.e., miRNAs, lncRNAs, and circRNAs) whose expression profile has been found to be deregulated in parathyroid tumors. The aim of the present paper is to give an insight into the ncRNAs involved in parathyroid tumorigenesis, which could be used in the future either as innovative diagnostic biomarkers or as therapeutic targets for the treatment of this endocrine neoplasia.

Primary Hyperparathyroidism: Modern Conception and Clinical Observation

The article is devoted to one of the actual medical and social problems — primary hyperparathyroidism, the late diagnosis of which leads to the development of severe complications and an increased risk of premature death. Unlike developed countries, where 80% of cases are represented by mild forms of the disease, in the Russian Federation this indicator does not exceed 30%, while 70% are manifest forms. Widespread awareness of doctors of various specialties in the diagnosis of parathyroid adenoma is necessary for the timely detection of the disease. The article reflects the main stages of the study of the disease, the pathogenesis of the clinical manifestations of primary hyperparathyroidism, the classic symptoms of which are changes in the target organs of the parathyroid hormone — bone tissue, urinary system and gastrointestinal tract, is considered. Bone disorders are the most common manifestation of hyperparathyroidism and are characterized by increased bone metabolism with a progressive decrease in bone mineral density. Typical changes in the kidneys include nephrolithiasis and nephrocalcinosis, causing the formation of renal failure. Gastrointestinal signs of hyperparathyroidism are erosion and ulcers of the stomach and duodenum, prone to bleeding, recurrent pancreatitis. Diagnosis of the disease is based on laboratory results, characterized by elevated levels of calcium and parathyroid hormone in the blood. Visualization of the paradenomas in most cases is provided by ultrasound and scintigraphy. Removal of parathyroid adenoma is the most effective treatment. A clinical case of a severe form of the disease is presented, indicating an urgent need to take measures to solve the problem of primary hyperparathyroidism.

Primary Hyperparathyroidism: Modern Conception and Clinical Observation

The article is devoted to one of the actual medical and social problems — primary hyperparathyroidism, the late diagnosis of which leads to the development of severe complications and an increased risk of premature death. Unlike developed countries, where 80% of cases are represented by mild forms of the disease, in the Russian Federation this indicator does not exceed 30%, while 70% are manifest forms. Widespread awareness of doctors of various specialties in the diagnosis of parathyroid adenoma is necessary for the timely detection of the disease. The article reflects the main stages of the study of the disease, the pathogenesis of the clinical manifestations of primary hyperparathyroidism, the classic symptoms of which are changes in the target organs of the parathyroid hormone — bone tissue, urinary system and gastrointestinal tract, is considered. Bone disorders are the most common manifestation of hyperparathyroidism and are characterized by increased bone metabolism with a progressive decrease in bone mineral density. Typical changes in the kidneys include nephrolithiasis and nephrocalcinosis, causing the formation of renal failure. Gastrointestinal signs of hyperparathyroidism are erosion and ulcers of the stomach and duodenum, prone to bleeding, recurrent pancreatitis. Diagnosis of the disease is based on laboratory results, characterized by elevated levels of calcium and parathyroid hormone in the blood. Visualization of the paradenomas in most cases is provided by ultrasound and scintigraphy. Removal of parathyroid adenoma is the most effective treatment. A clinical case of a severe form of the disease is presented, indicating an urgent need to take measures to solve the problem of primary hyperparathyroidism.

The influence of gender on clinical manifestations of primary hyperparathyroidism

To explore the impact of gender on presentation of primary hyperparathyroidism (PHPT), clinical data of 150 histopathologically proven PHPT patients were collected and retrospectively analyzed. Most of the patients (72.0%) were parathyroid adenoma (PA), and 9.3% of them were parathyroid carcinoma (PC). In PA patients, albumin-corrected serum calcium levels (TASC) were lower in women than in men [ (2.84±0.28) mmol/L vs. (3.03±0.34) mmol/L, P=0.006]. In all PHPT subjects, serum urea nitrogen, creatinine, uric acid levels were lower in women than in men. Bone pain was more frequent in women over 50 years old than in men (52.33% vs.29.17%, P=0.045). The incidence of PC was higher in men than in women (20.59% vs. 6.03%, P=0.010). In conclusion, there are gender differences in the clinical presentation of PHPT. TASC was high in men with PA compared to women with PA. Bone pain was more common in the woman patients over 50 years old, and PC was more common in men.

Primary hyperparathyroidism in childhood

Primary hyperparathyroidism is a disease caused by excessive production of parathyroid hormone by the parathyroid glands. Most often, sporadic cases of the disease occur. In the family form of hyperparathyroidism, as well as in the syndrome of multiple endocrine neoplasia, the disease is caused by genetic changes. In manifest forms of the disease, hyperparathyroidism leads to destruction and deformation of bone tissue, osteoporosis, urolithiasis, cholelithiasis, pancreatitis, peptic ulcer disease, and disorders of mineral and electrolyte metabolism. Bone manifestations of the disease can lead to disability of the child. The article presents the experience of surgical treatment of 15 children, patients with primary hyperparathyroidism, aged from 6 to 18 years old, 10 of them girls and 5 boys operated in the period from 1973 to 2017. The main methods of diagnosis of the disease, the difficulties of timely diagnostic are discussed. The features of laboratory indicators of clinical manifestations of the disease are clearly shown. The clinical manifestations of primary hyperparathyroidism in children differed from adults more heavily damage of bone tissue with the development of gross deformities of the limbs. In 8 (57.3%) of 15 children, manifest forms of the disease were diagnosed. In 7 (46.7%) children, parathyroid adenomas were detected and removed during surgery for various thyroid diseases. In two patients, parathyroid adenomas were removed during operations performed for a genetically confirmed syndrome of multiple endocrine neoplasia of type IIa. In this study, the features of adenoma localization of the parathyroid gland, the possibility of surgical treatment and the dynamics of clinical manifestations after surgery are discussed. Proper treatment allowed to achieve full recovery.

Osteoblastoclastoma – a clinical mask of primary hyperparathyroidism

The analysis of cases of primary hyperparathyroidism was undertaken during 2010–2016 years. Determined that none of 18 patients, operated in the clinic, had visceral or kidney forms of hyperparathyroidism. All patients had bone form, manifesting pathological fractures, stimulating tumor growth or severe osteoporosis, in 14 patients the diagnosis was suspected from laboratory studies (parathyroid hormone, blood calcium, alkaline phosphatase), upon further examination were found parathyroid adenoma. After surgical treatment, all patients recovered without recurrence and postoperative complications. In our cases, the most characteristic picture of hyperparathyroidism has X-ray examination of the skull bones, in the form of osteolysis or cystic bone reconstruction. It should be noted that primary hyperparathyroidism masked in some cases of osteoblastoma that often leads to misdiagnosis and wrong treatment strategy. These clinical manifestations of primary hyperparathyroidism make clinicians more cautious with this disease.

Calcium metabolism and the clinical manifestations of primary hyperparathyroidism

Calcium metabolism and the clinical manifestations of primary hyperparathyroidism

Analysis of diagnosis and treatment of 89 patients with primary hyperparathyroidism

Objective To summarize the clinical manifestations, diagnosis and treatment of the primary hyperparathyroidism(PHPT). Methods The clinical data of 89 patients with PHPT admitted during 1991 to 2013 were retrospectively analyzed. Results The mean age of the 89 patients was(44.7±15.8)years(13-86 years), male to female ratio was 1∶2.1. 79% of the 89 patients were symptomatic. 62% of the 89 patients had been misdiagnosed. 52% had been misdiagnosed as kidney stones or bone diseases(fracture, tumor, and metabolic bone disease). The remaining subjects had been misdiagnosed as peptic ulcer, rheumatoid arthritis or pancreatitis. The median serum parathyroid hormone(PTH)level in 88 patients was 697.3 pg/ml(26.4-5 000.0 pg/ml, n=88), the mean serum calcium level was(3.03±0.56)mmol/L(n=88). The 24 h urine calcium was(10.02±4.73)mmol/24 h(n=36). The sensitivity of localization of the parathyroid lesions with technetium-99mmethoxy-isobutyl-isonitrile(99mTc-MIBI)was 96%, being higher than ultrasound(71%), CT(71%), and MRI(72%)(P<0.05, respectively). 79 cases had been treated surgically. The median serum PTH level was 748.2 pg/ml(46.1-5 000.0 pg/ml)before surgery, 79.9 pg/ml(11.35-838.0 pg/ml)15 minutes after surgical removal of the lesions(P<0.05 vs preoperative)and 22.9 pg/ml(2.3-1 203.0 pg/ml)on the first postoperative day(P<0.05 vs preoperative). Serum calcium was(3.03±0.56)mmol/L before surgery, (2.25±0.37)mmol/L on the first postoperative day(P<0.05 vs preoperative)and(2.08±0.36)mmol/L on the second postoperative day(P<0.05 vs preoperative). After the operation, 42 cases(53%)had perioral and limb numbness, 2 cases(3%)had hoarseness of voice and bucking while drinking, 1 case(1%) had tetany. All these symptoms were improved after calcium supplementation. 67 patients(85%)had been diagnosed as parathyroid adenoma pathologically, 7 patients(9%)as hyperplasia, 3 patients(4%)as cysts, and 2 patients(3%)as carcinoma. Among 67 cases of adenomas, 62 cases had a single parathyroid adenoma, 1 case with multiple parathyroid adenomas, and 4 cases with ectopic parathyroid adenomas. The ectopic lesions were located below the thyroid, in the rib cage, left mediastinum, and above the sternum. Conclusions The majority of domestic PHPT was symptomatic. Delayed diagnosis of PHPT is still very frequent. The clinical presentations of PHPT are variable, determination of serum calcium and PTH level simultaneously is the keypoint for early identification and diagnosis of PHPT. The clinician should be familiar with the various clinical manifestations of PHPT and thus enhance understanding of pathogenesis of the disease. 99mTc-MIBI scintigraphy remained the first choice of preoperative imaging localization of the parathyroid lesions, followed by ultrasound, CT, and MRI. Surgical removal of the lesions is effective and safe. (Chin J Endocrinol Metab, 2015, 31: 300-305) Key words: Primary hyperparathyroidism; Diagnosis; Treatment

Primary Hyperparathyroidism in MEN2 Syndromes.

One of the components of trethe classical form of MEN2 syndromes is primary hyperparathyroidism (PHP). It occurs in 20-30% of the typical MEN2A syndrome. The prevalence is more rare in gene carriers as these frequently have familial MTC only. PHP is diagnosed more frequently in association with the exon 11, codon 634 mutation of the ret gene-so there is phenotype/genotype correlation. The clinical manifestations of PHP in MEN2 are usually mild and the peak age of diagnosis after the 3rd decade. The treatment is surgical excision of the enlarged gland(s). Although there can be multigland disease in the parathyroids, it is frequently the case that both hyperplasia and adenoma may coexist, or even a single adenoma may be found during the investigation and finally during the operation. Patients with MEN2 syndromes should be screened for PHP with serum calcium measurements. The intensity of the screening should be higher in those carrying the ret mutations most frequently associated with this manifestation.

Structure and frequency of clinical manifestations of primary hyperparathyroidism

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

A Case of Primary Hyperparathyroidism with Rapid Regression of a Brown Tumor after Parathyroidectomy

Primary hyperparathyroidism is mainly caused by parathyroid adenoma (85%) and is characterized by hypercalcemia, osteoporosis, renal stones, and gastrointestinal and neurological disorders. Because of improvements in blood analysis over the last two decades, primary hyperparathyroidism is typically diagnosed early and asymptomatically. A rare clinical manifestations of primary hyperparathyroidism, brown tumors (osteitis fibrosa cystica), are osteolytic lesions resulting from long-term hyperparathyroidism. Radiologically, it is difficult to distinguish a brown tumor from plasmacytoma, multiple myeloma, or bone metastasis. We report a case of a 44-year-old man with primary hyperparathyroidism that caused a large brown tumor (11 × 5 × 8 cm) that mimicked plasmacytoma or cancer metastasis on pelvic magnetic resonance imaging. After a bone biopsy report that was highly suggestive of a brown tumor, serum calcium and intact parathyroid hormone levels were determined. The lesion was ultimately diagnosed as a brown tumor and a parathyroidectomy was performed. After 1 year, the lesion has nearly regressed by follow up of the anteroposterior view of the pelvis and bone mineral density has improved. The present case highlights the importance of considering brown tumors in the evaluation of patients presenting with hypercalcemia and osteolytic lesions without definite

Relationship Between Serum Vitamin D Status and Clinical Manifestations of Primary Hyperparathyroidism

To compare vitamin D status represented by serum 25-hydroxyvitamin D (25-OHD) levels in a group of patients with primary hyperparathyroidism, stratified by clinical manifestations. We studied 22 patients (18 women and 4 men) with primary hyperparathyroidism--5 patients with severe osteitis fibrosa cystica, 10 symptomatic patients with active renal stone disease without overt bone disease, and 7 asymptomatic patients. Bone mineral density (BMD) measurements (T-scores) were done at the lumbar spine, femoral neck, and distal radius, and laboratory data for the three subgroups were analyzed. Although considerably younger than the asymptomatic group, patients with osteitis fibrosa had significantly lower mean serum 25-OHD levels (16.7 +/- 1.1 ng/mL versus 29.9 +/- 2.9 ng/mL; P = 0.003). Moreover, patients with osteitis fibrosa had significantly lower BMD in comparison with patients who had renal stone disease as well as asymptomatic patients for all sites measured. Serum parathyroid hormone levels were significantly higher in patients with osteitis fibrosa than in asymptomatic patients (1,352.8 +/- 297.2 pg/mL versus 145.0 +/- 43.7 pg/mL; P<0.02) as well as in comparison with patients who had renal stone disease (P<0.02). Patients with osteitis fibrosa had urinary N-telopeptide levels that were significantly higher than those in asymptomatic patients (501.5 +/- 201.7 versus 51.3 +/- 6.4 nmol/mmol creatinine; P = 0.02) and those in patients with renal stone disease (P = 0.01). The findings in this study demonstrate that vitamin D deficiency or insufficiency may contribute to disease severity in primary hyperparathyroidism.

Clinical Manifestations of Primary Hyperparathyroidism Before and After Parathyroidectomy A Case-Control Study

There has been an National Institutes of Health consensus meeting concerning the management of patients with "asymptomatic" primary hyperparathyroidism, yet there is no clear definition of this condition. The authors, therefore, documented the clinical manifestations and frequencies of these manifestations in unselected patients with primary hyperparathyroidism and determined whether these clinical manifestations resolved after parathyroidectomy. The authors studied 152 unselected consecutive patients with primary hyperparathyroidism and 132 control patients with nontoxic thyroid disorders who were treated by parathyroidectomy or thyroidectomy, respectively, between January 1986 and June 1991. All patients received a questionnaire during their initial office visits and the same questionnaire again after their operations. Patients were also questioned about their perception of the success of the operation. Eighty percent of the parathyroid patients and 70.5% of the thyroid patients completed the questionnaires, and the mean follow-up time was 20 months. Only 7 (4.6%) patients with primary hyperparathyroidism had no symptoms, and 26 (17.1%) had no associated conditions despite 74.3% of these patients having serum calcium levels less than 12 mg/dL. Symptoms including fatigue, exhaustion, weakness, polydipsia, polyuria, nocturia, joint pain, bone pain, constipation, depression, anorexia, nausea, heartburn, and associated conditions, including nephrolithiasis, and hematuria occurred more often in patients with primary hyperparathyroidism than in the thyroid control patients (p < 0.05). After parathyroidectomy, only eight (5.3%) patients failed to have any improvement in symptoms or associated conditions. Fifty-seven percent of the parathyroid patients versus 30% of the thyroid patients felt better overall after the operation, strength subjectively improved in 29% of parathyroid patients versus 13% in thyroid patients; thirty-seven percent of the parathyroid patients versus 13% of the thyroid patients claimed they were less depressed. When examined thoroughly, few patients with primary hyperparathyroidism were asymptomatic or without associated conditions, and most patients experienced subjective improvement after successful parathyroidectomy.

Diagnosis and management of thyroid and parathyroid hyperplasia and neoplasia

Several causative factors for thyroid cancer have been identified, the most important of which is low-dose ionizing radiation. Although the prognosis for patients with differentiated thyroid cancer is generally good, the literature continues to present new information concerning clinical, pathologic, and molecular factors that allow for identification of high-risk subgroups. Molecular biology techniques now enable clinicians to identify patients with benign disease or a family history of thyroid cancer who will develop a malignancy. Despite these advances in tumor biology, however, controversy continues regarding the surgical procedures that should be performed for the various types of thyroid cancer. Although parathyroid cancer is a very rare but lethal form of neoplasia, benign parathyroid disease is much more common. Recent molecular studies have revealed fascinating differences among the various clinical manifestations of primary hyperparathyroidism.

Journal of Bone and Mineral Research

Bone disease is one of the most important clinical manifestations of primary hyperparathyroidism. Recent studies have shown that the loss of bone in "modern" hyperparathyroidism is not homogeneous throughout the skeleton. Whereas measurements of the spine and the trabecular portion of iliac crest are normal or even slightly increased, the wrist and the cortical bone of the iliac crest are significantly lower than expected. Thus, knowledge of the percentage of trabecular bone at each measurement site is important. These include distal radius, 80%; midradius, 5%; vertebrae, 19-25%; vertebral body, 33-42%; and femoral neck, 43%. Knowledge of the precision and its relationship to ranges and rates of change of bone mass are essential. For an individual, the bone mass should change by 2.8 times the precision before one can determine with 90% confidence that the change was real, not due to measurement error. Noninvasive methods of measuring bone mass that are commercially available include single- and dual-photon absorptiometry, quantitative computed tomography, and dual-energy x-ray absorptiometry. The precision of these techniques varies, with the best values reported using dual-energy x-ray absorptiometry. Research should be done to describe more completely the patterns of bone loss in this disease, including longitudinal studies on rates of loss at different skeletal sites. Studies that relate the bone mass at a particular site to fractures must be done in populations with hyperparathyroidism to see if the risk of fracture is similar to the risk in normal or osteoporotic individuals.

Laboratory Diagnosis of Primary Hyperparathyroidism

Although considerable effort has gone into the development and modernization of indirect parathyroid function tests, recent experience indicates that they do not possess adequate diagnostic specificity or sensitivity to provide a definitive diagnosis of HPT when they are most needed, that is, in mild or intermittent hypercalcemia. Conversely, in most research and some commercial laboratories, the combination of hypercalcemia and an elevated mid-molecule or intact PTH level will be diagnostic in more than 90% of patients.