Familial hyperaldosteronism type II

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ORPHA:404OMIM:605635E26.0
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Overview

Familial hyperaldosteronism type II (FH-II) is a rare inherited condition where the adrenal glands — two small glands that sit on top of the kidneys — produce too much of a hormone called aldosterone. This overproduction is called primary aldosteronism or hyperaldosteronism. Unlike some other forms of familial hyperaldosteronism, FH-II is not suppressed by a steroid medication called dexamethasone, which helps doctors tell it apart from related conditions. When aldosterone levels are too high, the body holds onto too much sodium and loses too much potassium. This throws off the balance of salts in the blood and causes high blood pressure (hypertension) that is often difficult to control with standard medications. Low potassium levels (hypokalemia) can cause muscle weakness, cramps, fatigue, and heart rhythm problems. Many people with FH-II are diagnosed after their doctor notices persistently high blood pressure at a relatively young age, sometimes in childhood or early adulthood. The condition can be caused by a benign (non-cancerous) tumor on one or both adrenal glands, or by the adrenal glands simply being overactive without a visible tumor. Treatment depends on the cause: surgery to remove an affected adrenal gland can be curative in some cases, while medications that block aldosterone's effects — such as spironolactone or eplerenone — are used when surgery is not an option or when both glands are involved. With proper treatment, blood pressure can usually be well controlled and serious complications can be prevented.

Also known as:

Key symptoms:

High blood pressure that is hard to controlLow potassium levels in the bloodMuscle weakness or crampsFatigue and tirednessFrequent urination or increased thirstHeadachesHeart palpitations or irregular heartbeatNumbness or tingling in the hands and feetConstipationGeneral feeling of being unwell

Clinical phenotype terms (14)— hover any for plain English
Glucocortocoid-insensitive primary hyperaldosteronismHP:0011740Abnormal circulating renin concentrationHP:0040084Secretory adrenocortical adenomaHP:0011746Adrenal hyperplasiaHP:0008221Metabolic alkalosisHP:0200114Dexamethasone-suppressible primary hyperaldosteronismHP:0011739
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 hyperaldosteronism type II.

View clinical trials →

No actively recruiting trials found for Familial hyperaldosteronism type II at this time.

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No specialists are currently listed for Familial hyperaldosteronism type II.

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 hyperaldosteronism type II.

Search all travel grants →NORD Financial Assistance ↗

Community

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Caregiver Resources

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.Should I have genetic testing for the CLCN2 gene, and should my family members be tested too?,Do I need adrenal vein sampling to find out if one or both of my adrenal glands are affected?,Am I a candidate for surgery, and what are the chances it would cure my high blood pressure?,What are the risks of long-term use of spironolactone or eplerenone, and are there alternatives?,How often do I need blood tests and check-ups to monitor my condition?,What symptoms should prompt me to go to the emergency room?,What does this diagnosis mean for my children or siblings — should they be screened?

Common questions about Familial hyperaldosteronism type II

What is Familial hyperaldosteronism type II?

Familial hyperaldosteronism type II (FH-II) is a rare inherited condition where the adrenal glands — two small glands that sit on top of the kidneys — produce too much of a hormone called aldosterone. This overproduction is called primary aldosteronism or hyperaldosteronism. Unlike some other forms of familial hyperaldosteronism, FH-II is not suppressed by a steroid medication called dexamethasone, which helps doctors tell it apart from related conditions. When aldosterone levels are too high, the body holds onto too much sodium and loses too much potassium. This throws off the balance of sal

How is Familial hyperaldosteronism type II inherited?

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