We are independent & ad-supported. We may earn a commission for purchases made through our links.
Advertiser Disclosure
Our website is an independent, advertising-supported platform. We provide our content free of charge to our readers, and to keep it that way, we rely on revenue generated through advertisements and affiliate partnerships. This means that when you click on certain links on our site and make a purchase, we may earn a commission. Learn more.
How We Make Money
We sustain our operations through affiliate commissions and advertising. If you click on an affiliate link and make a purchase, we may receive a commission from the merchant at no additional cost to you. We also display advertisements on our website, which help generate revenue to support our work and keep our content free for readers. Our editorial team operates independently of our advertising and affiliate partnerships to ensure that our content remains unbiased and focused on providing you with the best information and recommendations based on thorough research and honest evaluations. To remain transparent, we’ve provided a list of our current affiliate partners here.

What Is Familial Hypocalciuric Hypercalcemia?

By B. Chisholm
Updated Mar 03, 2024
Our promise to you
The Health Board is dedicated to creating trustworthy, high-quality content that always prioritizes transparency, integrity, and inclusivity above all else. Our ensure that our content creation and review process includes rigorous fact-checking, evidence-based, and continual updates to ensure accuracy and reliability.

Our Promise to you

Founded in 2002, our company has been a trusted resource for readers seeking informative and engaging content. Our dedication to quality remains unwavering—and will never change. We follow a strict editorial policy, ensuring that our content is authored by highly qualified professionals and edited by subject matter experts. This guarantees that everything we publish is objective, accurate, and trustworthy.

Over the years, we've refined our approach to cover a wide range of topics, providing readers with reliable and practical advice to enhance their knowledge and skills. That's why millions of readers turn to us each year. Join us in celebrating the joy of learning, guided by standards you can trust.

Editorial Standards

At The Health Board, we are committed to creating content that you can trust. Our editorial process is designed to ensure that every piece of content we publish is accurate, reliable, and informative.

Our team of experienced writers and editors follows a strict set of guidelines to ensure the highest quality content. We conduct thorough research, fact-check all information, and rely on credible sources to back up our claims. Our content is reviewed by subject-matter experts to ensure accuracy and clarity.

We believe in transparency and maintain editorial independence from our advertisers. Our team does not receive direct compensation from advertisers, allowing us to create unbiased content that prioritizes your interests.

Familial hypocalciuric hypercalcemia is a genetic disorder that results in high calcium levels due to a mutation in the calcium-sensing receptor gene. In most cases the condition may be completely asymptomatic and go unnoticed throughout life, requiring no treatment. Familial hypocalciuric hypercalcemia is sometimes also referred to as familial benign hypercalcemia and may require genetic or other testing to differentiate between it and primary hyperparathyroidism, which more commonly causes raised calcium levels.

Due to the mutation in the calcium-sensing receptor gene in patients with familial hypocalciuric hypercalcemia, the body thinks that calcium levels are low and increases calcium in the blood. This is referred to as hypercalcemia. Normally, if the blood levels of calcium increase, the urinary output of calcium is also increased but, in the case of familial hypocalciuric hypercalcemia, this does not hold true and the urinary levels of calcium tends to be low, which is called hypocalciuria.

The parathyroid gland is an important player in the sensitive feedback mechanisms involved in the calcium balance of the body and, in the case of primary hyperparathyroidism, the parathyroid hormone levels tend to be high. In the case of familial hypocalciuric hypercalcemia, however, the levels of parathyroid hormone may be slightly raised, or at normal levels. The differentiation between primary hyperparathyroidism and familial hypocalciuric hypercalcemia will be made by using a number of tests which may include genetic testing and a 24-hour urine calcium test.

A 24-hour calcium urine test is done by collecting the urine over 24 hours. Usually the process recommended is that the first urination of the morning is done in the toilet and all urine thereafter is collected in the specific collection container obtained from the lab. This is continued until the next morning, when the first urination is also collected in the bottle. The amount of calcium is then measured and low or high levels of calcium excretion in the urine can be determined.

Genetic testing is done by PCR and DNA sequencing on a blood sample. The results of this test may only be obtained from the lab after 14 to 21 days. The diagnosis of familial hypocalciuric hypercalcemia, and differentiation between other conditions which may cause high calcium levels is important to ensure the correct treatment. In the case of primary hyperparathyroidism, a parathyroidectomy, or removal of the gland, may be necessary. In patients with familial hypocalciuric hypercalcemia, this is not normally recommended.

The Health Board is dedicated to providing accurate and trustworthy information. We carefully select reputable sources and employ a rigorous fact-checking process to maintain the highest standards. To learn more about our commitment to accuracy, read our editorial process.
Discussion Comments
The Health Board, in your inbox

Our latest articles, guides, and more, delivered daily.

The Health Board, in your inbox

Our latest articles, guides, and more, delivered daily.