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The Relationship between Primary Hyperparathyroidism and Thrombotic Events: Report of Three Cases and a Review of Potential Mechanisms.

ABSTRACT: We have described three uncommon cases of patients who presented with clinical thrombotic events (stroke, pulmonary embolism and deep venous thrombosis) during the course of a hypercalcemia-induced hypercoagulable state. After thorough investigation, the diagnosis of primary hyperparathyroidism - due to a parathyroid adenoma - was established in all cases. The association between hypercalcemia and venous or arterial thrombosis has been previously described; however, relevant data are still insufficient. The existing evidence in the field was reviewed and the interesting underlying pathophysiologic mechanisms were also discussed. Further studies are required to shed more light on the unusual, still intriguing relationship between calcium and thrombosis.

SUBMITTER: Koufakis T

PROVIDER: S-EPMC6305263 | biostudies-other | 2018 Jul

REPOSITORIES: biostudies-other

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The Relationship between Primary Hyperparathyroidism and Thrombotic Events: Report of Three Cases and a Review of Potential Mechanisms.

Koufakis Theocharis T Antonopoulou Vasiliki V Grammatiki Maria M Karras Spyridon N SN Ajjan Ramzi R Zebekakis Pantelis P Kotsa Kalliopi K

International journal of hematology-oncology and stem cell research 20180701 3

We have described three uncommon cases of patients who presented with clinical thrombotic events (stroke, pulmonary embolism and deep venous thrombosis) during the course of a hypercalcemia-induced hypercoagulable state. After thorough investigation, the diagnosis of primary hyperparathyroidism - due to a parathyroid adenoma - was established in all cases. The association between hypercalcemia and venous or arterial thrombosis has been previously described; however, relevant data are still insuf ...[more]

PMID: 30595818

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Project description:Composite pheochromocytoma (CP) is a very rare tumor originating from neural crest cells, predominantly composed of pheochromocytoma (PCC), a chromaffin cell tumor arising in adrenal medulla, and ganglioneuroma, a tumor derived from autonomic ganglion cells of the nervous system. Moreover, CP may be present in the hereditary syndromes of which pheochromocytoma is part. Literature offers scarce data on this subject, and particularly about its biological behavior, clinical evolution, and molecular profile. We report the phenotype and outcome of three cases of CP (PCC and ganglioneuroma components), followed up at the Endocrine Service of the Clementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, UFRJ, Rio de Janeiro, Brazil. Two nonsyndromic patients (cases 1 and 2) were negative to germline mutations in genes VHL, SDHB, SDHC, SDHD, SDHAF2, TMEM127, and MAX, while the third case (case 3) had clinical diagnosis of neurofibromatosis syndrome. Cases 1, 2, and 3 were diagnosed at 29, 39, and 47 years old, respectively, and were followed up for 3, 17, and 9 years without no CP recurrence. All cases had apparent symptoms of catecholaminergic excess secreted by PCC. Ganglioneuroma, the neurogenic component present in all three cases, had a percentage representation ranging from 5% to 15%. Tumors were unilateral and large, measuring 7.0 cm × 6.0 cm × 6.0 cm, 6.0 cm × 4.0 cm × 3.2 cm, and 7.5 cm × 6.0 cm × 4.5 cm, respectively. All cases underwent adrenalectomy with no recurrence, metastasis, or development of contralateral tumor during follow-up. Genetic testing has been scarcely offered to CP cases. However, a similar frequency of genetic background is found when compared with classic PCC, mainly by the overrepresentation of NF1 cases in the CP subset. By literature review, we identified a notorious increase in cases reported with CP in the last decade, especially in the last 3 years, indicating a recent improvement in the diagnosis of this rare disorder in clinical practice.

Dataset Information

The Relationship between Primary Hyperparathyroidism and Thrombotic Events: Report of Three Cases and a Review of Potential Mechanisms.

Publications

The Relationship between Primary Hyperparathyroidism and Thrombotic Events: Report of Three Cases and a Review of Potential Mechanisms.

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