Familial hyperaldosteronism type 2

Familial hyperaldosteronism type 2 (FH-2) is a genetic disorder characterized by the overproduction of aldosterone, a hormone that increases the reabsorption of sodium and water and the release of potassium in the kidneys. This condition leads to hypertension (high blood pressure) and hypokalemia (low potassium levels).

Symptoms

The primary symptoms of FH-2 include persistent hypertension and hypokalemia. Patients may also experience muscle weakness, fatigue, and headaches. If left untreated, FH-2 can lead to severe complications such as cardiovascular disease and stroke.

Causes

FH-2 is caused by a genetic mutation that affects the regulation of aldosterone production. The specific gene involved in FH-2 has not been definitively identified, but it is known to be inherited in an autosomal dominant pattern.

Diagnosis

Diagnosis of FH-2 typically involves a combination of genetic testing and blood tests to measure aldosterone and potassium levels. Imaging studies such as CT scans or MRI may also be used to assess the adrenal glands.

Treatment

Treatment for FH-2 focuses on controlling blood pressure and correcting potassium levels. This may involve the use of aldosterone antagonists such as spironolactone or eplerenone. In some cases, surgery to remove one or both adrenal glands may be necessary.

Related Pages

• Hypertension
• Hypokalemia
• Aldosterone
• Endocrinology
• Genetic testing