Genetic hyperparathyroidism

Genetic hyperparathyroidism (also known as hereditary hyperparathyroidism or familial hyperparathyroidism) refers to a group of inherited conditions characterized by overactivity of one or more parathyroid glands, leading to excessive production of parathyroid hormone (PTH). This elevated PTH causes hypercalcemia (high blood calcium levels), which can affect multiple body systems including the skeletal, renal, gastrointestinal, and neurological systems. Genetic hyperparathyroidism encompasses several distinct hereditary disorders, including familial isolated hyperparathyroidism (FIHP), multiple endocrine neoplasia types 1 and 2A (MEN1, MEN2A), and hyperparathyroidism-jaw tumor syndrome (HPT-JT), among others. Key symptoms include kidney stones (nephrolithiasis), bone pain and osteoporosis, fatigue, muscle weakness, excessive thirst and urination, abdominal pain, nausea, constipation, depression, and cognitive difficulties. In some cases, patients may be asymptomatic and the condition is discovered incidentally through routine blood tests showing elevated calcium levels. The severity and age of onset can vary depending on the specific genetic cause. Genes implicated in genetic hyperparathyroidism include MEN1, RET, CDC73 (HRPT2), CASR, GCM2, and others. Treatment depends on the underlying genetic etiology and clinical severity. Surgical removal of the affected parathyroid gland(s) — parathyroidectomy — remains the primary curative treatment for symptomatic patients. In cases associated with MEN syndromes, surveillance for other endocrine tumors is essential. Calcimimetic agents such as cinacalcet may be used in patients who are not surgical candidates. Genetic testing and counseling are recommended for affected individuals and their family members to identify at-risk relatives and guide appropriate screening and management strategies. Long-term monitoring of calcium levels, renal function, and bone density is important for all patients.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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