Familial hyperaldosteronism type II
Familial Hyperaldosteronism Type II[edit | edit source]
Familial Hyperaldosteronism Type II (FH-II) is a rare genetic disorder characterized by the overproduction of the hormone aldosterone, which can lead to hypertension (high blood pressure) and an increased risk of cardiovascular disease. Unlike other forms of hyperaldosteronism, FH-II does not respond to glucocorticoid treatment.
Pathophysiology[edit | edit source]
FH-II is caused by mutations in genes that regulate aldosterone production. The exact genetic mutations responsible for FH-II are not as well characterized as those for Familial Hyperaldosteronism Type I, which is caused by a chimeric gene duplication. In FH-II, the overproduction of aldosterone leads to sodium retention, potassium excretion, and increased blood volume, resulting in hypertension.
Clinical Presentation[edit | edit source]
Patients with FH-II typically present with:
- Hypertension that may be resistant to standard antihypertensive treatments.
- Hypokalemia (low potassium levels), although this is not always present.
- Metabolic alkalosis due to the loss of hydrogen ions.
Diagnosis[edit | edit source]
The diagnosis of FH-II involves:
- Measuring plasma aldosterone concentration (PAC) and plasma renin activity (PRA). A high PAC to PRA ratio suggests primary hyperaldosteronism.
- Genetic testing to rule out other forms of familial hyperaldosteronism.
- Adrenal imaging to exclude adrenal adenomas or hyperplasia.
Treatment[edit | edit source]
Treatment options for FH-II include:
- Mineralocorticoid receptor antagonists such as spironolactone or eplerenone, which block the effects of aldosterone.
- Potassium-sparing diuretics to manage hypokalemia.
- Lifestyle modifications, including dietary changes and regular exercise, to manage hypertension.
Prognosis[edit | edit source]
With appropriate treatment, individuals with FH-II can manage their blood pressure effectively and reduce the risk of complications. However, ongoing monitoring is essential to adjust treatment as needed.
Research and Future Directions[edit | edit source]
Research into the genetic basis of FH-II is ongoing, with the aim of identifying specific mutations and developing targeted therapies. Advances in genetic testing may improve diagnostic accuracy and allow for personalized treatment approaches.
See Also[edit | edit source]
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NIH genetic and rare disease info[edit source]
Familial hyperaldosteronism type II is a rare disease.
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