Apparent Mineralocorticoid Excess: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Apparent Mineralocorticoid Excess?
This condition is usually managed by an endocrinologist or a nephrologist. A primary care doctor often starts the evaluation and then refers the patient to a specialist. Genetic counselors can help families understand inheritance. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What it is
Apparent mineralocorticoid excess is a rare condition in which the body acts as if it has too much aldosterone, though aldosterone levels are actually normal or low. A gene change stops an enzyme from breaking down cortisol, which then tricks the kidneys the same way aldosterone would. The body holds onto salt and water and loses too much potassium.
Symptoms
The most common sign is high blood pressure that starts early in life, sometimes in childhood. Low potassium can cause muscle weakness, cramps, tiredness, and sometimes abnormal heart rhythms. Children with the condition may grow more slowly than expected.
Causes and who gets it
A child must inherit a changed copy of the HSD11B2 gene from both parents; carriers of one copy usually have no symptoms. The condition is therefore very rare and is seen more often when parents are closely related. Large amounts of licorice can cause a similar, non-genetic picture that improves when licorice is stopped.
How doctors diagnose it
Doctors look for the pattern of high blood pressure, low potassium, and low aldosterone and renin in blood and urine tests. Genetic testing can confirm the diagnosis, and a family history of early high blood pressure is helpful.
Treatment
Treatment aims to control blood pressure and restore normal potassium. Doctors often prescribe aldosterone-blocking medicines such as spironolactone or eplerenone, sometimes with diuretics and a low-salt diet. Potassium is checked regularly, and treatment is usually long term.
When to see a doctor
Anyone with high blood pressure starting at a young age, or with muscle weakness, cramps, or an irregular heartbeat, should see a doctor. Fainting or chest pain needs urgent care. Early treatment can prevent damage to the heart, kidneys, and blood vessels.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance; a concierge doctor usually charges more and often works alongside insurance. Either can be a good first stop, offering longer visits. They can check blood pressure, order lab tests, and start basic treatment, then refer to a specialist and manage routine follow-up.
Common questions
Is apparent mineralocorticoid excess curable?
There is no cure because the condition is caused by a gene change. However, medicines and diet changes can usually control blood pressure and potassium levels. Outcomes differ from person to person.
Can eating licorice cause this condition?
Real licorice, eaten in large amounts over time, can cause a similar problem by blocking the same enzyme. This form is not genetic and usually improves after licorice is stopped. A doctor should still evaluate the symptoms.
Will my children inherit it?
A child must inherit a changed gene from both parents to have the condition. Parents who carry one changed copy typically have no symptoms. A genetic counselor can explain the chances for a specific family.
Why does low potassium matter so much?
Potassium helps nerves and muscles, including the heart, work properly. Very low potassium can cause weakness and dangerous heart rhythms. Doctors check potassium often during treatment.
Sources
- NIH Genetic and Rare Diseases Information Center - Apparent mineralocorticoid excess
- National Organization for Rare Disorders - Apparent Mineralocorticoid Excess
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
