2014Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)Open access

Primary hyperparathyroidism in young patients: a challenging cause of hypercalcaemia

Pedro Azevedo, Cristina Freitas, Susana Garrido, Cláudia Amaral, J. P. Pimentel, Rui Carvalho, António Cabrita

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Abstract

Hypercalcaemia is rare in the clinical practice and is often a clue to the presence of an unsuspected illness. Hyperparathyroidism and malignancy account for 80 -90% of hypercalcaemia states. Primary hyperparathyroidism (PHPT) results from an autonomous overproduction of parathyroid hormone (PTH) and it occurs most commonly in over 50-year-old individuals and in post -menopausal women. On rare occasions, it may be a feature of a familial condition, such as multiple endocrine neoplasia type 1 syndrome. The diagnosis of PHPT is frequently delayed because it is commonly asymptomatic and is often identified only after development of severe signs and symptoms, such as bone fractures, with significant morbidity. Parathyroidectomy is the treatment of choice, as it is effective at restoring normal serum calcium and PTH levels and has few complications. We report the case of a young patient presenting with severe hypercalcaemia, a solitary brown tumour and pathological bone fracture that led to the diagnosis of PHPT. A brief review of the current literature on this topic is performed

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Hypercalcaemia is rare in the clinical practice and is often a clue to the presence of an unsuspected illness. Hyperparathyroidism and malignancy account for 80 -90% of hypercalcaemia states. Primary hyperparathyroidism (PHPT) results from an autonomous overproduction of parathyroid hormone (PTH) and it occurs most commonly in over 50-year-old individuals and in post -menopausal women. On rare occasions, it may be a feature of a familial condition, such as multiple endocrine neoplasia type 1 syndrome. The diagnosis of PHPT is frequently delayed because it is commonly asymptomatic and is often identified only after development of severe signs and symptoms, such as bone fractures, with significant morbidity. Parathyroidectomy is the treatment of choice, as it is effective at restoring normal serum calcium and PTH levels and has few complications. We report the case of a young patient presenting with severe hypercalcaemia, a solitary brown tumour and pathological bone fracture that led to the diagnosis of PHPT. A brief review of the current literature on this topic is performed

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Available abstract

Hypercalcaemia is rare in the clinical practice and is often a clue to the presence of an unsuspected illness. Hyperparathyroidism and malignancy account for 80 -90% of hypercalcaemia states. Primary hyperparathyroidism (PHPT) results from an autonomous overproduction of parathyroid hormone (PTH) and it occurs most commonly in over 50-year-old individuals and in post -menopausal women. On rare occasions, it may be a feature of a familial condition, such as multiple endocrine neoplasia type 1 syndrome. The diagnosis of PHPT is frequently delayed because it is commonly asymptomatic and is often identified only after development of severe signs and symptoms, such as bone fractures, with significant morbidity. Parathyroidectomy is the treatment of choice, as it is effective at restoring normal serum calcium and PTH levels and has few complications. We report the case of a young patient presenting with severe hypercalcaemia, a solitary brown tumour and pathological bone fracture that led to the diagnosis of PHPT. A brief review of the current literature on this topic is performed

Key concepts: Primary hyperparathyroidism, Hypercalcaemia, Medicine, Hyperparathyroidism, Internal medicine, Pediatrics, Gastroenterology, Calcium

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