Familial hyperaldosteronism

Familial hyperaldosteronism is a rare, inherited condition characterized by high blood pressure (hypertension) and low levels of potassium in the blood (hypokalemia). This condition is caused by an overproduction of the hormone aldosterone by the adrenal glands. Aldosterone helps regulate the balance of salt and water in the body.

Causes

Familial hyperaldosteronism is caused by mutations in the CYP11B2 gene. This gene provides instructions for making an enzyme called aldosterone synthase, which is involved in the production of aldosterone. Mutations in the CYP11B2 gene lead to an overproduction of aldosterone, causing the symptoms of familial hyperaldosteronism.

Symptoms

The most common symptoms of familial hyperaldosteronism include:

• High blood pressure
• Low levels of potassium in the blood
• Fatigue
• Muscle weakness
• Frequent urination
• Excessive thirst

Diagnosis

Familial hyperaldosteronism is diagnosed through a combination of blood tests, urine tests, and imaging studies. Genetic testing may also be used to confirm the diagnosis.

Treatment

Treatment for familial hyperaldosteronism typically involves medications to control blood pressure and restore normal potassium levels. In some cases, surgery to remove one or both adrenal glands may be necessary.

See also

• Hypertension
• Hypokalemia
• Adrenal gland
• Aldosterone

References

Familial hyperaldosteronism Resources
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