Familial hyperprolactinemia

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ORPHA:397685OMIM:615555E22.1
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Overview

Familial hyperprolactinemia is a rare inherited condition in which the body produces too much of a hormone called prolactin. Prolactin is made by the pituitary gland, a small gland at the base of the brain. Normally, prolactin plays a role in breast milk production, but when levels are too high — a state called hyperprolactinemia — it can cause a range of problems in both men and women. In this familial (inherited) form, the condition runs in families, meaning it is passed down from parent to child through changes in certain genes. In women, high prolactin levels can lead to irregular or absent menstrual periods, unexpected breast milk production (called galactorrhea), difficulty getting pregnant, and reduced sex drive. In men, symptoms may include decreased libido, erectile dysfunction, breast enlargement, and in some cases, breast milk production. Over time, if left untreated, persistently high prolactin can contribute to weakened bones (osteoporosis) and may affect emotional well-being. The condition is typically managed with medications called dopamine agonists, such as cabergoline or bromocriptine, which work by lowering prolactin levels. These medications are effective for most patients and can restore normal hormone function, fertility, and quality of life. Because this is a familial condition, genetic counseling is recommended for affected families. Regular monitoring of prolactin levels and pituitary imaging may be needed to guide treatment over time.

Also known as:

Key symptoms:

Irregular or absent menstrual periods in womenUnexpected breast milk production (in women or men)Difficulty getting pregnant or infertilityLow sex driveErectile dysfunction in menBreast enlargement in menHeadachesWeakened bones (osteoporosis) over timeMood changes or depressionFatigueVision changes if a pituitary growth is present

Clinical phenotype terms (9)— hover any for plain English
Female hypogonadismHP:0000134Hemorrhagic ovarian cystHP:0012886GalactorrheaHP:0100829
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Familial hyperprolactinemia.

View clinical trials →

No actively recruiting trials found for Familial hyperprolactinemia at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Familial hyperprolactinemia community →

No specialists are currently listed for Familial hyperprolactinemia.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Familial hyperprolactinemia.

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Community

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Latest news about Familial hyperprolactinemia

Disease timeline:

New trial: Stockholm hyperTRIglyceridemia REGister (STRIREG) Study

Phase NA trial recruiting. Heredity for cardiovascular disease

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.Is my high prolactin level caused by a genetic change, and should my family members be tested?,What medication do you recommend, and what side effects should I watch for?,Will this condition affect my ability to have children, and what can be done to help?,How often will I need blood tests and imaging to monitor my condition?,Should I be concerned about bone health, and do I need a bone density scan?,Is this something I will need to take medication for my entire life?,Are there any new treatments or clinical trials I should know about?

Common questions about Familial hyperprolactinemia

What is Familial hyperprolactinemia?

Familial hyperprolactinemia is a rare inherited condition in which the body produces too much of a hormone called prolactin. Prolactin is made by the pituitary gland, a small gland at the base of the brain. Normally, prolactin plays a role in breast milk production, but when levels are too high — a state called hyperprolactinemia — it can cause a range of problems in both men and women. In this familial (inherited) form, the condition runs in families, meaning it is passed down from parent to child through changes in certain genes. In women, high prolactin levels can lead to irregular or abse

How is Familial hyperprolactinemia inherited?

Familial hyperprolactinemia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.