Question 1

What is Familial Isolated Hyperparathyroidism?

Accepted Answer

Familial Isolated Hyperparathyroidism (FIHP) is a hereditary condition where one or more parathyroid glands become overactive and produce too much hormone. It is caused by genetic mutations that cause the parathyroid glands to enlarge and secrete excessive parathyroid hormone (PTH), leading to elevated calcium levels in the blood. The Parathyroid Hormone (PTH), Intact test is the most important test for diagnosis because it directly measures PTH levels in the blood.

Question 2

What causes Familial Isolated Hyperparathyroidism?

Accepted Answer

Familial Isolated Hyperparathyroidism is caused by inherited genetic mutations that affect the parathyroid glands. These mutations cause one or more of the four parathyroid glands in your neck to grow larger than normal and produce too much parathyroid hormone (PTH). Unlike other forms of hyperparathyroidism that occur as part of broader genetic syndromes, FIHP affects only the parathyroid glands and runs in families, meaning multiple family members across generations may develop the condition.

Question 3

What is the best test for Familial Isolated Hyperparathyroidism?

Accepted Answer

The Parathyroid Hormone (PTH), Intact test is the most important test for Familial Isolated Hyperparathyroidism because it directly measures the amount of parathyroid hormone circulating in your blood. When you have FIHP, your enlarged parathyroid glands produce excessive PTH, which shows up as elevated levels on this test. This test is typically combined with blood calcium measurements to confirm the diagnosis, as high PTH levels paired with high calcium levels are the hallmark of hyperparathyroidism. If you have a family history of parathyroid problems or high calcium levels, this PTH test is essential for determining whether your parathyroid glands are overactive.

Question 4

When should I get tested for Familial Isolated Hyperparathyroidism?

Accepted Answer

You should get tested if you have a family history of hyperparathyroidism or parathyroid disorders, especially if multiple family members have been affected. Testing is also important if you experience symptoms like kidney stones, bone pain, frequent urination, fatigue, or if routine blood work shows elevated calcium levels. Because FIHP is hereditary, doctors often recommend screening for family members of people diagnosed with the condition, even before symptoms appear, to catch it early and prevent complications.

Question 5

What are the symptoms of Familial Isolated Hyperparathyroidism?

Accepted Answer

Symptoms of Familial Isolated Hyperparathyroidism result from high calcium levels in the blood and include kidney stones, bone pain or fractures, frequent urination, excessive thirst, fatigue, weakness, depression, and memory problems. Some people experience digestive issues like nausea, constipation, or loss of appetite. Many people with FIHP have mild or no symptoms in the early stages, which is why the condition is often discovered through routine blood work showing elevated calcium levels. Over time, untreated high calcium can lead to more serious symptoms affecting the bones, kidneys, and nervous system.

Question 6

Who is at risk for Familial Isolated Hyperparathyroidism?

Accepted Answer

People with a family history of hyperparathyroidism or FIHP are at highest risk because the condition is inherited through genetic mutations passed from parents to children. If one of your parents has FIHP, you have a 50% chance of inheriting the genetic mutation. The condition can affect both men and women and typically appears in young adulthood or middle age, often earlier than non-hereditary forms of hyperparathyroidism. Blood relatives of someone diagnosed with FIHP should consider genetic counseling and screening to assess their risk.

Question 7

What happens if Familial Isolated Hyperparathyroidism is left untreated?

Accepted Answer

Untreated Familial Isolated Hyperparathyroidism leads to persistently high calcium levels that can cause serious complications over time. The kidneys may develop stones or experience permanent damage, bones can become weak and prone to fractures due to calcium loss (osteoporosis), and the cardiovascular system may be affected with high blood pressure and irregular heart rhythms. Some people develop peptic ulcers, pancreatitis, or severe neurological symptoms including memory loss and depression. Because FIHP is progressive and hereditary, early diagnosis and treatment are crucial to prevent these long-term complications and protect your overall health.

Question 8

Can Familial Isolated Hyperparathyroidism be diagnosed with a blood test?

Accepted Answer

Yes, Familial Isolated Hyperparathyroidism is primarily diagnosed through blood tests that measure parathyroid hormone (PTH) and calcium levels. The Parathyroid Hormone (PTH), Intact blood test reveals whether your parathyroid glands are producing too much hormone, while calcium tests show if this excess PTH is causing high blood calcium levels. When these tests show elevated PTH and calcium together, especially in someone with a family history of the condition, it strongly indicates FIHP. Additional blood tests may check phosphorus and vitamin D levels, but the PTH test is the cornerstone of diagnosis.

Question 9

How is Familial Isolated Hyperparathyroidism treated?

Accepted Answer

Treatment for Familial Isolated Hyperparathyroidism typically involves surgical removal of the overactive parathyroid gland or glands, a procedure called parathyroidectomy. This surgery is often recommended when calcium levels are significantly elevated or complications like kidney stones or bone loss develop. For people with mild elevations who are not good surgical candidates, doctors may recommend monitoring with regular blood tests, staying well-hydrated, avoiding calcium supplements and certain medications, and getting regular bone density scans. Because FIHP is genetic, treatment decisions also consider the likelihood of additional glands becoming overactive over time and may involve genetic counseling for family planning.

Question 10

How can I prevent Familial Isolated Hyperparathyroidism?

Accepted Answer

Because Familial Isolated Hyperparathyroidism is caused by inherited genetic mutations, the condition itself cannot be prevented. However, if you have a family history of FIHP, you can take proactive steps to catch it early through regular screening with PTH and calcium blood tests. Early detection allows for monitoring and timely treatment before serious complications develop. Genetic counseling can help you understand your risk and make informed decisions about family planning. Maintaining overall good health with adequate hydration, regular exercise, and avoiding excessive calcium and vitamin D supplements may help manage symptoms if you do develop the condition.

Question 11

What can I do at home for Familial Isolated Hyperparathyroidism?

Accepted Answer

At home, you can manage Familial Isolated Hyperparathyroidism by staying well-hydrated with plenty of water throughout the day to help prevent kidney stones and support kidney function. Engage in regular weight-bearing exercise like walking or strength training to maintain bone health. Avoid taking calcium and vitamin D supplements unless specifically directed by your doctor, as these can worsen high calcium levels. Monitor your symptoms and keep track of any changes like increased fatigue, bone pain, or kidney stone episodes to report to your healthcare provider. While these home measures do not cure FIHP, they can help minimize complications and improve your quality of life alongside medical treatment.

Question 12

How’s this work?

Accepted Answer

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Question 13

How do I know which test to get?

Accepted Answer

In the test options, find the test you want.
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Question 14

When will my lab results be available?

Accepted Answer

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know.
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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

Absolutely! We totally understand that errors can happen. No worries, we're here to help you.
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Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

Yes.
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Question 18

How can I find a lab location near me?

Accepted Answer

During the ordering process, you’ll be able to select a specific lab near you, with no strings attached!
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Familial Isolated Hyperparathyroidism Blood Test

What is Familial Isolated Hyperparathyroidism?

What causes Familial Isolated Hyperparathyroidism?

What is the best test for Familial Isolated Hyperparathyroidism?

When should I get tested for Familial Isolated Hyperparathyroidism?

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