Familial Isolated Hyperparathyroidism

What is familial isolated hyperparathyroidism?

Familial isolated hyperparathyroidism is an inherited disorder, in which the parathyroid glands in the neck produce too much of the parathyroid hormone (PTH), also known as parathyrin, which plays an active role in managing bone health and calcium levels in the blood. The consequence of an overactive parathyroid gland is an increase in blood calcium (hypercalcemia), which can lead to a ranging host of changes in the body. Familial inherited hyperparathyroidism, while a form of primary hyperthyroidism, is inherited at birth, needing only one parent to carry the defective gene (autosomal dominant). Primary hyperparathyroidism, on the other hand, is typically caused by a benign tumor on one or more of the parathyroid glands.

What are the symptoms of familial isolated hyperparathyroidism?

Symptoms of familial isolated hyperparathyroidism include:

• Nausea
• Vomiting
• Hypertension
• Fatigue and weakness
• Kidney stones
• Trouble concentrating
• Constipation
• Depression

A familial isolated hyperparathyroidism diagnosis carries a risk of heart disease and kidney failure.

How is familial inherited hyperparathyoidism diagnosed?

Should a doctor observe a patient experiencing one or more of the familial inherited hyperparathyroidism symptoms, he/she may make the diagnosis. High blood calcium is more often than not the first warning sign. Doctors can also use diagnostic tests, including a bone mineral density test, an ultrasound to detect kidney stones, a CT scan, a urine sample, and various blood evaluations.

What treatment options are available for familial isolated hyperparathyroidism?

First and foremost, surgical removal of the parathyroid gland(s) may be able to alleviate symptoms. In some cases, the disease has been cured. However, for those living with a milder form of familial isolated hyperparathyroidism, there are less invasive options to manage the symptoms. Drinking lots of water, exercising routinely, and managing a diet have been shown to help, on top of regular appointments with a doctor to monitor the condition. The FDA has approved a medication, known as Sensipar®, to help lower PTH and blood calcium in the body—for those not eligible for a parathyroidectomy.

Where can I learn more about familial isolated hyperparathyroidism?

• NIH
• National Institute of Diabetes and Digestive and Kidney Diseases
• U.S. National Library of Medicine
• National Organization for Rare Disorders (NORD)