Familial hyperaldosteronism

Familial hyperaldosteronism
Synonyms	Glucocorticoid-remediable aldosteronism, FH
Pronounce	N/A
Specialty	N/A
Symptoms	Hypertension, hypokalemia, muscle weakness, fatigue
Complications	Cardiovascular disease, stroke, kidney damage
Onset	Usually in childhood or early adulthood
Duration	Chronic
Types	Type I, Type II, Type III
Causes	Genetic mutations
Risks	Family history
Diagnosis	Genetic testing, blood test for aldosterone and renin levels
Differential diagnosis	Primary hyperaldosteronism, Cushing's syndrome, Liddle syndrome
Prevention	None
Treatment	Glucocorticoids, mineralocorticoid receptor antagonists
Medication	Spironolactone, eplerenone, dexamethasone
Prognosis	Good with treatment
Frequency	Rare
Deaths	Rare

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

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