If you’ve been diagnosed with hyperparathyroidism—or you’re concerned about a family member who has it—you might wonder: is hyperparathyroidism genetic? In some cases, the answer is yes. While most cases of hyperparathyroidism are not inherited, a smaller subset called familial hyperparathyroidism does run in families and has a clear genetic component.
Understanding whether your hyperparathyroidism is genetic is important, especially if multiple relatives have experienced symptoms or needed surgery. In this article, we’ll examine familial hyperparathyroidism signs and symptoms and provide key points to help you determine if genetic testing might be right for you.
What Is Familial Hyperparathyroidism?
Familial hyperparathyroidism is a hereditary form of hyperparathyroidism, meaning the disorder is passed down through families due to genetic mutations. It causes one or more of the parathyroid glands to become overactive and produce too much parathyroid hormone (PTH). This hormonal imbalance results in high calcium levels in the blood. This condition, known as hypercalcemia, causes a range of dangerous symptoms affecting bones, kidneys, digestion, and mental function.
Most cases of hyperparathyroidism occur after the age of fifty, and typically affect just one gland. Familial hyperparathyroidism, however, often appears earlier in life and may involve multiple glands. This makes early identification and continued monitoring especially important when hyperparathyroidism is genetic.
Understanding the Genetic Link in Hyperparathyroidism
When hyperparathyroidism is genetic, it often shows up in multiple family members and often at a young age. Familial hyperparathyroidism is caused by genetic mutations. Changes in specific genes, like MEN1, CDC73, or CASR, and a few more genes, can lead to abnormal cell growth in one or more glands, often resulting in an adenoma—a benign tumor that causes excessive hormone production. In other cases, all four glands may become enlarged, a condition called hyperplasia.
These gland changes are the direct cause of familial hyperparathyroidism—and do not improve without surgery.
Types of Familial Hyperparathyroidism
When hyperparathyroidism is genetic, the condition may result from one of a group of genetic syndromes that cause overactivity in the parathyroid glands.
The most well-known familial hyperparathyroidism types include:
- Multiple Endocrine Neoplasia Type 1 (MEN1): Affects multiple endocrine glands, including the parathyroids, pancreas, and pituitary gland.
- Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT): A rare inherited disorder that may involve benign tumors in the jaw as well as parathyroid adenomas or carcinomas.
- Familial Isolated Hyperparathyroidism (FIHP): A form that affects only the parathyroid glands and does not involve other endocrine tumors.
In rare cases, secondary hyperparathyroidism—often caused by chronic kidney disease—can appear in families with shared medical risk factors, but it is not considered genetically linked familial hyperparathyroidism.
Recognizing Signs and Symptoms of Hyperparathyroidism in Families
The signs and symptoms of familial hyperparathyroidism are frequently misdiagnosed or dismissed—even by experienced physicians. Because symptoms develop gradually and overlap with other conditions, it’s common for patients to go years without a correct diagnosis. High calcium levels found during routine bloodwork often provide the clearest clue.
These symptoms may include:
- Fatigue or low energy
- Brain fog or difficulty concentrating
- Depression, anxiety, or irritability
- Muscle or joint pain
- Constipation or digestive issues
- Frequent urination or kidney stones
When multiple family members experience any combination of these symptoms—especially if they begin early in life or persist without a clear cause—consider familial hyperparathyroidism. Start with a simple calcium check with your doctor, and if your calcium levels are high, don’t accept “Well, everyone needs calcium” for an answer.
When hyperparathyroidism is genetic, not everyone who is affected will have the same symptoms, and not all symptoms will appear at once. This variability often leads to years of missed or incorrect diagnoses.
Genetic Testing for Familial Hyperparathyroidism
Genetic testing is often recommended when hyperparathyroidism is diagnosed at a younger age, involves multiple parathyroid glands, or occurs in more than one family member. A simple blood test can identify mutations in genes like MEN1, CDC73, or CASR, revealing whether the condition is part of a broader inherited syndrome.
When it is learned that your hyperparathyroidism is genetic, your surgical plan and long-term monitoring may be adjusted—and, perhaps more importantly, family members can be tested early and treated before serious complications arise.
Managing Familial Hyperparathyroidism Long Term
When hyperparathyroidism is genetic, long-term management is essential. Even after successful surgery, individuals with familial forms remain at risk for recurrence or involvement of additional parathyroid glands. Ongoing monitoring helps detect changes early—before symptoms return or complications develop.
Why Family History Matters in Hyperparathyroidism Genetics
Untreated hyperparathyroidism can cause lasting damage to the bones, kidneys, and nervous system. When the condition is genetic, symptoms may appear earlier and affect more than one parathyroid gland—leading to more complex cases.
A hyperparathyroidism family history should prompt earlier testing, diagnosis, and treatment, often before serious complications arise. If one person is diagnosed with a familial form, close relatives may carry the same mutation, even if they aren’t yet showing symptoms.
Schedule a Genetic Evaluation and Parathyroid Consultation with Dr. Larian Today
If you’ve been diagnosed with hyperparathyroidism at a young age, have multigland involvement, or suspect it may run in your family, don’t wait. A simple blood test can determine whether your hyperparathyroidism is genetic—and help protect your loved ones through early diagnosis and treatment.
Dr. Babak Larian is a world-renowned parathyroid surgeon with deep expertise in diagnosing and treating familial hyperparathyroidism. He works closely with genetic counselors and uses the most advanced surgical techniques to ensure the best outcomes.
Schedule a consultation or contact us today to explore your options for genetic testing, surgical care, and long-term monitoring. With the right care team, hyperparathyroidism doesn’t have to define your life—or your family’s future.
