Hyperparathyroidism, familial, primary

Familial Primary Hyperparathyroidism is a genetic disorder characterized by the overactivity of one or more of the parathyroid glands, leading to elevated levels of parathyroid hormone (PTH). This condition results in the disruption of calcium, phosphate, and bone metabolism. Familial primary hyperparathyroidism is a subset of hyperparathyroidism, which can occur as part of multiple endocrine neoplasia syndromes or as an isolated endocrine disorder.

Causes

Familial primary hyperparathyroidism is caused by genetic mutations that lead to the overproduction of PTH. These mutations can be inherited in an autosomal dominant manner, meaning only one copy of the altered gene in each cell is sufficient to cause the disorder. The specific genes involved can vary among families.

Symptoms

The symptoms of familial primary hyperparathyroidism can vary widely among individuals. Common symptoms include:

• Hypercalcemia (elevated calcium levels in the blood)
• Kidney stones
• Bone pain and fragility
• Fatigue
• Depression
• Abdominal pain
• Increased thirst and urination

Diagnosis

Diagnosis of familial primary hyperparathyroidism involves a combination of clinical evaluation, biochemical tests, and genetic testing. Biochemical tests typically measure levels of calcium, phosphorus, and PTH in the blood. Imaging studies, such as ultrasound or sestamibi scans, may be used to locate any enlarged parathyroid glands.

Treatment

Treatment options for familial primary hyperparathyroidism may include surgical removal of the overactive parathyroid glands. In cases where surgery is not feasible or in patients with mild symptoms, monitoring and managing calcium levels with medication may be recommended.

Prognosis

The prognosis for individuals with familial primary hyperparathyroidism varies depending on the severity of the condition and the success of treatment. Surgical removal of the affected glands can often cure the hyperparathyroidism, but careful monitoring is necessary to manage potential complications.

See Also

• Hypercalcemia
• Parathyroidectomy
• Multiple Endocrine Neoplasia

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