Overview
Familial primary hyperparathyroidism (FPHPT) is an inherited condition in which one or more of the parathyroid glands — four small glands located in the neck near the thyroid — become overactive and produce too much parathyroid hormone (PTH). This hormone normally controls calcium levels in the blood. When too much PTH is made, calcium levels rise above normal, a condition called hypercalcemia. Over time, high calcium can cause a wide range of problems throughout the body. Unlike the more common sporadic (non-inherited) form of primary hyperparathyroidism, the familial form runs in families and is caused by changes (mutations) in specific genes. It can appear as an isolated condition (familial isolated hyperparathyroidism, or FIHP) or as part of broader genetic syndromes such as Multiple Endocrine Neoplasia type 1 (MEN1) or type 2A (MEN2A), or hyperparathyroidism-jaw tumor syndrome (HPT-JT). Common symptoms include fatigue, bone pain, kidney stones, frequent urination, excessive thirst, muscle weakness, depression, and difficulty concentrating — sometimes summarized as 'bones, stones, abdominal moans, and psychic groans.' Some people have no obvious symptoms and are diagnosed only through routine blood tests showing high calcium. Treatment typically involves surgery to remove the overactive parathyroid gland(s), which is often curative. However, because the condition is genetic, multiple glands may be affected, and the disease can recur, so lifelong monitoring is important. Medications such as cinacalcet may be used when surgery is not possible or not desired.
Key symptoms:
Fatigue and low energyKidney stonesBone pain or bone thinning (osteoporosis)Frequent urinationExcessive thirstMuscle weaknessDepression or mood changesDifficulty concentrating or memory problemsNausea or loss of appetiteAbdominal pain or constipationJoint achesHigh blood pressureHeart rhythm irregularitiesFractures from minor injuries
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
1 availableCINACALCET
Hypercalcemia in adult patients with primary HPT for whom parathyroidectomy would be indicated on the basis of serum calcium levels, but who are unable to undergo parathyroidectomy
Clinical Trials
View all trials with filters →No actively recruiting trials found for Familial primary hyperparathyroidism at this time.
New trials open frequently. Follow this disease to get notified.
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Familial primary hyperparathyroidism.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which gene mutation is causing my hyperparathyroidism, and does it put me at risk for other health problems?,Should my family members be tested for this genetic condition?,How many of my parathyroid glands are affected, and what type of surgery do you recommend?,What is the chance that my hyperparathyroidism will come back after surgery?,How often will I need blood tests and follow-up appointments after treatment?,Are there any other organs or glands I should be screened for tumors in?,If I choose not to have surgery right now, what are the risks and what monitoring do I need?
Common questions about Familial primary hyperparathyroidism
What is Familial primary hyperparathyroidism?
Familial primary hyperparathyroidism (FPHPT) is an inherited condition in which one or more of the parathyroid glands — four small glands located in the neck near the thyroid — become overactive and produce too much parathyroid hormone (PTH). This hormone normally controls calcium levels in the blood. When too much PTH is made, calcium levels rise above normal, a condition called hypercalcemia. Over time, high calcium can cause a wide range of problems throughout the body. Unlike the more common sporadic (non-inherited) form of primary hyperparathyroidism, the familial form runs in families a
How is Familial primary hyperparathyroidism inherited?
Familial primary hyperparathyroidism follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Familial primary hyperparathyroidism?
3 specialists and care centers treating Familial primary hyperparathyroidism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Familial primary hyperparathyroidism?
1 patient support program are currently tracked on UniteRare for Familial primary hyperparathyroidism. See the treatments and support programs sections for copay assistance, eligibility, and contact details.