Primary hyperparathyroidism is a common endocrinopathy. Multiple Endocrine Neoplasia Type 1 (MEN1) is a rare autosomal dominantly inherited endocrine tumor predisposition syndrome, with one of main manifestations being primary hyperparathyroidism. We retrospectively evaluated a set of 1011 patients who underwent surgery for primary hyperparathyroidism between the years 2018-2022, and found 78 (8 %) patients who underwent reoperations and 27 patients with MEN1 syndrome. In the group of patients with MEN1 syndrome, 7 (35 %) needed reoperations. Patients with multiple endocrine neoplasia syndrome have a higher risk of needing reoperation. Genetic testing can help identify MEN1 syndrome preoperatively and to better evaluate the approach to surgery.
Multiglandular primary hyperparathyroidism (MGD) represents a rare form of primary hyperparathyroidism (PHPT). MGD is associated with hereditary PHPT, but the sporadic MGD is more common and affects a similar patient profile as single gland parathyroid disease (SGD). The distinction between SGD and MGD is of great clinical importance, especially for the strategy of parathyroidectomy. Based on the limited knowledge available, MGD is likely to be a genetically heterogeneous disease resulting from the interaction of germline and somatic DNA mutations together with epigenetic alterations. Furthermore, these events may combine and occur independently in parathyroid tumors within the same individual with MGD. Gene expression profiling has shown that SGD and MGD may represent distinct entities in parathyroid tumorigenesis. We are waiting for studies to analyze exactly which genes are different in SGD and MGD in order to identify potential biomarkers that can distinguish between the two forms of the disease.
- MeSH
- lidé MeSH
- molekulární biologie MeSH
- parathormon genetika MeSH
- paratyreoidea patologie MeSH
- primární hyperparatyreóza * diagnóza genetika patologie MeSH
- retrospektivní studie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- Názvy látek
- parathormon MeSH
Skeletal deformation like genu valgum is reported to be rare in Primary hyperparathyroidism (PHPT). The solitary adenoma or hyperplasia of the parathyroid glands are the cause in 80-85% of the cases. We report 2 cases of girls on 12 years and 15 years of age, complaining from pain and genu valgum deformation of the lower extremities before the planned orthopaedic surgical correction. The first patient had complaints for 3 years and lost ability to walk independently, the second case lost normal gate for a period of 5 months. The paraclinical screening discovered hypercalcemia, hypophosphatemia, elevated alkaline phosphatase, normal creatinine, raised parathormone. In the first case the X-rays depicted fibrocystic osteodistrophy from a hyperparathyroid type with bone cysts, giant cell "brown tumors" and pathological bone reorganization, in the second case - coarse fibrous structure of the left knee joint with genu valgum with bone cysts in the distal metaphysis of the left femur. The ultrasound of the thyroid gland found oval hypoechoic formations with suspicious origin from the parathyroid glands. These findings were confirmed from the SPECT/CT pointing active adenomas in the parathyroid glands. Skeletal deformation like genu valgum is the reason to search for the primary diagnosis in our 2 cases. Investigation of the serum calcium and parathormone are diagnostic in 100%. The imaging diagnosis has a critical role for indicating surgical treatment of the parathyroid gland adenoma. Key words: genu valgum, hypercalcemia, paediatric parathyroid adenoma, ultrasound, SPECT/CT.
- MeSH
- adenom * MeSH
- dítě MeSH
- hyperkalcemie * MeSH
- lidé MeSH
- nádory příštítného tělíska * diagnóza diagnostické zobrazování MeSH
- primární hyperparatyreóza * diagnóza diagnostické zobrazování MeSH
- ultrasonografie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Familial hypocalciuric hypercalcemia (FHH) type 1, caused by a heterozygous inactivating mutation of the gene encoding the calcium-sensing receptor (CaSR), is characterized by mild to moderate hypercalcemia, hypocalciuria and inappropriately normal or elevated parathyroid hormone (PTH). FHH must be differentiated from primary hyperparathyroidism (PHPT) because parathyroidectomy is ineffective in the former. Herein, we report a 39-year-old male patient with a 13-year history of asymptomatic PTH-dependent hypercalcemia (mean calcium of 2.88 mmol/l; reference range 2.15-2.55 mmol/l) and calcium-to-creatinine clearance ratio (Ca/Cr) ranging from 0.007 to 0.0198, which is consistent with either FHH or PHPT. Although a family history of hypercalcemia was negative, and PET-CT with fluorocholine was suggestive of a parathyroid adenoma, genetic analysis of the CaSR gene identified a heterozygous inactivating mutation NM_000388.4:c.1670G>A p. (Gly557Glu) in exon 6 and a polymorphism NM_000388.4:c.1192G>A p. (Asp398Asn) in exon 4. The G557E mutation has been previously reported in a Japanese family in which all family members with the mutation had Ca/Cr below 0.01 consistent with FHH. The biochemical profile of FHH and PHPT may overlap. Our FHH patient with a G557E CaSR mutation illustrates that the differential diagnosis can be difficult in an index case with no family history, (false) positive parathyroid imaging and higher calciuria than expected for FHH. Calcium intake, vitamin D status and bone resorption might have contributed to the Ca/Cr variations over a 13-year clinical follow up. This case thus emphasizes the irreplaceable role of genetic testing of the CaSR gene when clinical evaluation is inconclusive.
- MeSH
- diferenciální diagnóza MeSH
- dospělí MeSH
- hyperkalcemie krev vrozené diagnóza diagnostické zobrazování MeSH
- lidé MeSH
- následné studie MeSH
- PET/CT metody MeSH
- primární hyperparatyreóza krev diagnóza diagnostické zobrazování MeSH
- prognóza MeSH
- receptory "calcium-sensing" krev MeSH
- vápník krev MeSH
- vitamin D krev MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- receptory "calcium-sensing" MeSH
- vápník MeSH
- vitamin D MeSH
Primary hyperparathyroidism (PHPT) has been increasingly diagnosed incidentally in its asymptomatic form owing to calcium screening tests. This form of PHPT represents 80% in developed countries. Although PHPT patients are asym-ptomatic, target organ (bone and kidney) involvement is frequently observed. Mild PHPT is associated with a reduction of bone mineral densityand, moreover, with increased risk of vertebral fractures. The extent of a patient evaluation and indications for parathyroidectomy are based on expert guidelines from 2014. Normocalcemic variant of PHPT has been recently recognized, possibly with higher prevalence in general population than the hypercalcemic form of PHPT. Normal but with respect to hypercalcemia inadequately high parathormon levels characterize normohormonal PHPT. If a hereditary form of PHPT is suspected, genetic testing is recommended. Although there are new clinical forms of PHPT, parathyroidectomy still represents the only curative approach to PHPT followed by substantial osteoprotective effect.Key words: asymptomatic form - normocalcemic form - normohormonal form - parathyroidectomy - primary hyperparathyroidism - recent guidelines for the management PHPT.
BACKGROUND/AIM: Parathyroid carcinoma is a rare clinical entity, which represents one of the main reasons, why surgery should be performed in specialized centres. Preoperatively, it is very difficult to distinguish between benign and malignant hyperparathyroidism. PATIENTS AND METHODS: During the years 1996-2016, we performed 2,220 operations in 2,075 patients with a diagnosis of primary hyperparathyroidism. RESULTS: Among these 2,220 operations, there were 16 operations for parathyroid carcinoma. These 16 operations, including reoperations, were performed in four patients. Two patients had no reoperation, but another 2 patients required 14 reoperations in total. Parathyroid carcinoma was described in 0.2% of all patients with a diagnosis of primary hyperparathyroidism. The number of operations was 0.73% of all operations of primary hyperparathyroidism in years 1996-2016. CONCLUSION: Prognosis of parathyroid carcinoma is quite favourable, patients evidence a long-term survival rate after the primary operation. However, every reoperation increases the number of possible complications, including recurrent laryngeal nerve injury.
- Klíčová slova
- Parathyroid carcinoma, hyperparathyroidism, surgery,
- MeSH
- biologické markery MeSH
- lidé středního věku MeSH
- lidé MeSH
- multimodální zobrazování MeSH
- nádory příštítného tělíska komplikace diagnóza epidemiologie chirurgie MeSH
- paratyreoidektomie MeSH
- pooperační komplikace MeSH
- primární hyperparatyreóza diagnóza epidemiologie etiologie chirurgie MeSH
- senioři MeSH
- určení symptomu MeSH
- výsledek terapie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- biologické markery MeSH
OBJECTIVE: To assess the diagnostic and therapeutic options in the care of patients with primary hyperparathyreosis in outpatient practice.Cohort and methods: The study included all the patients with primary hyperparathyroidism treated at the 2nd Internal Medicine Department, Masaryk University and the University Hospital of St. Anne in Brno in the period from Jan 1, 2008 to Dec 31, 2013. The sample consisted of 218 patients, including 41 men and 177 women. Patients with secondary hyperparathyroidism, especially patients with underlying hypovitaminosis D, renal insufficiency and those taking medications with possible effects on parathyroid hormone levels, have not been included in the study. A special attention was paid to differences between the normocalcaemic and hypercalcaemic patients. Ultrasound scanning was performed in all patients, while scintigraphy was indicated in patients who are considered for possible surgical treatment. RESULTS: In the group of 218 patients, serum calcium levels at the baseline were pathologically elevated in 31 patients (14 %) and normal in 187 patients (86 %). One fifth of patients with normocalcaemic primary hyperparathyroidism developed long-term hypercalcaemia - within two years in two thirds of the patients from the onset of the disease and sporadically also after more than four years of follow-up. Parathyroid adenoma was found and removed in 30 hypercalcemic patients (in 97 % of all 31 hypercalcemic patients operated on) and in 2 normocalcemic patients (40 % of all 5 the normocalcemic patients operated on). Pharmacological treatment was administered to 22 patients, of which 9 patients received long-term treatment and 13 patients received pharmacotherapy only during the preoperative preparation for patients with very high serum calcium levels. CONCLUSION: The results support the opinion that primary hyperparathyroidism is a biphasic disease. The initial normocalcemic period is often asymptomatic or associated with symptoms of little importance. Severe complications, however, may already be present also in normocalcemic patients. The decision of when patients with normocalcemic primary hyperparathyroidism should be monitored and when initiation of treatment is needed should also require more detailed information.Key words: hypercalcaemia - hyperparathyroidism asymptomatic and primary - normocalcaemia - outpatient care - parathyroid hormone - surgery and pharmacotherapy.
- MeSH
- adenom komplikace diagnóza chirurgie MeSH
- asymptomatické nemoci MeSH
- hyperkalcemie etiologie terapie MeSH
- lidé MeSH
- nádory příštítného tělíska komplikace diagnóza chirurgie MeSH
- parathormon MeSH
- primární hyperparatyreóza diagnóza etiologie terapie MeSH
- vápník MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- parathormon MeSH
- vápník MeSH
Currently, primary hyperparathyroidism is the third most common endocrine disorder worldwide. In the last years, though, the numbers of patients with this diagnosis have been clearly increasing. Females are affected more often, and the age of patients is usually over 50 years. The diagnosis is guided by clinical symptoms of the patient and by biochemical and imaging methods results. [1] When parathyroid adenoma is identified as the source of primary hyperparathyroidism, the necessary extent of resection is performed. The present case involved a rapid diagnostic process necessary to stabilize the patient, together with localization of the adenoma for the indicated surgery. Ultrasound-guided exploration found a surprisingly large tumour of the parathyroid gland causing the acute clinical condition with symptoms suggestive of primary hyperparathyroidism with discrete mechanical compression of the upper mediastinum.Key words: critical diagnosis of hyperparathyroidism acute-active parathyroid adenoma extirpation of a huge parathyroid tumour - normalization of the clinical condition.
- MeSH
- adenom komplikace diagnostické zobrazování patologie chirurgie MeSH
- dospělí MeSH
- jednofotonová emisní výpočetní tomografie MeSH
- lidé MeSH
- mediastinum MeSH
- nádory příštítného tělíska komplikace diagnostické zobrazování patologie chirurgie MeSH
- paratyreoidea diagnostické zobrazování chirurgie MeSH
- primární hyperparatyreóza diagnóza etiologie chirurgie MeSH
- radiofarmaka MeSH
- SPECT/CT MeSH
- technecium 99mTc sestamibi MeSH
- tumor burden MeSH
- ultrasonografie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- radiofarmaka MeSH
- technecium 99mTc sestamibi MeSH
PURPOSE OF THE STUDY: Primary hyperparathyroidism is an endocrine disorder affecting calcium and phosphate metabolism. It is surgically treated by removing hyperfunctional parathyroid tissue. The aim of the study was to show, based on surgical results, that the introduction of serum calcium screening in orthopaedic therapy is effective. The detection of hypercalcemia and diagnosis of primary hyperparathyroidism allow for a good timing of endocrine surgery in relation to an orthopaedic procedure. MATERIAL AND METHODS: This retrospective study included 441 patients in the age range of 18 to 83 years who underwent parathyroidectomy between 2004 and 2007. Skeletal disorders were diagnosed by clinical, radiographic and densitometric examination; calcium levels were measured after surgery. Bone repair after parathyroidectomy was followed up by the endocrinologist for 1 year. RESULTS: Before surgery, 48 % of the patients had skeletal disorders. Adenoma was found in 87 %, double adenoma in 2 %, hyperplasia in 10 % and parathyroid carcinoma in 0.5 % of the patients. Complications involved transient paresthesia of the recurrent laryngeal nerve (1 %), transient hypocalcemia (0.5 %), transient post-operative arrhythmias (0.5 %), temporary psychological problems (0.7 %) and post-operative bleeding (0.5 %). None of the patients died. Serum calcium levels were as follows: 2.90 ± 0.01 mmol/L pre-operatively; 2.44 ± 0.01 mmol/L on the evening of surgery; 2.30 ±0.01 mmol/L on the 1st day; 2.19 ± 0.01 mmol/L on the 2nd day; and 2.18 ± 0.01 mmol/L on the 3rd post-operative day. On the 3rd post-operative day most of the patients were discharged from the hospital. Normal calcium levels were achieved in 98 % of the surgically treated patients. DISCUSSION AND CONCLUSIONS: The study provides evidence for the efficiency of calcium screening in primary hyperparathyroidism and shows the feasibility of involving endocrine surgery in the course of orthopaedic treatment.
- MeSH
- dospělí MeSH
- hyperkalcemie etiologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- metabolické nemoci kostí diagnóza etiologie MeSH
- mladiství MeSH
- mladý dospělý MeSH
- paratyreoidektomie * MeSH
- primární hyperparatyreóza komplikace diagnóza chirurgie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
- MeSH
- dospělí MeSH
- komplikace těhotenství diagnóza MeSH
- lidé MeSH
- primární hyperparatyreóza diagnóza MeSH
- těhotenství MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
