About Late-onset familial hypoaldosteronism

What is Late-onset familial hypoaldosteronism?

Late-onset familial hypoaldosteronism (LOFHA) is a rare inherited disorder characterized by low levels of aldosterone, a hormone produced by the adrenal glands. Symptoms of LOFHA include low blood pressure, fatigue, muscle weakness, and salt craving. Treatment typically involves taking mineralocorticoid replacement therapy to replace the missing aldosterone.

What are the symptoms of Late-onset familial hypoaldosteronism?

The symptoms of Late-onset familial hypoaldosteronism include:

-High blood pressure
-Headaches
-Fatigue
-Muscle weakness
-Muscle cramps
-Nausea
-Vomiting
-Loss of appetite
-Weight loss
-Dehydration
-Low blood potassium levels
-Swelling in the legs and feet
-Salt cravings
-Increased urination
-Confusion
-Lightheadedness
-Fainting

What are the causes of Late-onset familial hypoaldosteronism?

Late-onset familial hypoaldosteronism is caused by a mutation in the CYP11B2 gene, which is responsible for the production of aldosterone. This mutation can be inherited from either parent, and it is usually passed down in an autosomal dominant pattern. Other causes of late-onset familial hypoaldosteronism include mutations in the NR3C2 gene, which is responsible for the production of cortisol, and mutations in the SCNN1A gene, which is responsible for the production of sodium channels.

What are the treatments for Late-onset familial hypoaldosteronism?

Treatment for late-onset familial hypoaldosteronism typically involves replacing the missing aldosterone with medications such as fludrocortisone, spironolactone, and/or mineralocorticoid receptor antagonists. Other treatments may include dietary modifications, such as increasing salt intake, and lifestyle changes, such as increasing physical activity. In some cases, surgery may be necessary to remove the affected adrenal gland.

What are the risk factors for Late-onset familial hypoaldosteronism?

1. Family history of the condition
2. Age (over 40)
3. Gender (more common in males)
4. Ethnicity (more common in people of Mediterranean descent)
5. Hypertension
6. Hypokalemia
7. Hypernatremia
8. Hypercalcemia
9. Hyperreninemia
10. Low plasma renin activity
11. Low aldosterone levels
12. High plasma cortisol levels
13. Low plasma potassium levels
14. High plasma sodium levels
15. Low plasma chloride levels
16. High plasma bicarbonate levels

Is there a cure/medications for Late-onset familial hypoaldosteronism?

Yes, there is a cure for late-onset familial hypoaldosteronism. Treatment typically involves taking medications such as fludrocortisone and spironolactone to replace the missing aldosterone. Additionally, lifestyle changes such as reducing salt intake and increasing potassium intake may be recommended.