Rare surgically correctable form of primary aldosteronism

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Overview

Rare surgically correctable form of primary aldosteronism refers to a subset of primary aldosteronism (also known as Conn syndrome when caused by an aldosterone-producing adenoma) in which excessive production of the hormone aldosterone by one or both adrenal glands can be definitively treated through surgical intervention. Primary aldosteronism is characterized by autonomous overproduction of aldosterone, leading to sodium retention, potassium loss, and suppression of the renin-angiotensin system. This results in resistant hypertension (high blood pressure), hypokalemia (low potassium levels), metabolic alkalosis, and increased cardiovascular risk including stroke, heart attack, and cardiac fibrosis. The surgically correctable forms most commonly include unilateral aldosterone-producing adenoma (APA) and, less frequently, unilateral adrenal hyperplasia. These conditions affect the endocrine and cardiovascular systems primarily, with secondary effects on the kidneys and electrolyte balance. Patients may experience muscle weakness, fatigue, headaches, excessive thirst, and frequent urination due to hypokalemia and hypertension. Some cases may be associated with somatic mutations in genes such as KCNJ5, ATP1A1, ATP2B3, or CACNA1D within the adenoma tissue. Diagnosis involves biochemical screening with the aldosterone-to-renin ratio, confirmatory testing, and adrenal vein sampling to lateralize the source of aldosterone excess. Surgical treatment, typically laparoscopic unilateral adrenalectomy, is the definitive therapy for unilateral disease and can result in cure or significant improvement of hypertension and normalization of potassium levels. Preoperative treatment with mineralocorticoid receptor antagonists such as spironolactone or eplerenone is used to control blood pressure and correct hypokalemia before surgery.

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Rare surgically correctable form of primary aldosteronism.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

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Common questions about Rare surgically correctable form of primary aldosteronism

What is Rare surgically correctable form of primary aldosteronism?

Rare surgically correctable form of primary aldosteronism refers to a subset of primary aldosteronism (also known as Conn syndrome when caused by an aldosterone-producing adenoma) in which excessive production of the hormone aldosterone by one or both adrenal glands can be definitively treated through surgical intervention. Primary aldosteronism is characterized by autonomous overproduction of aldosterone, leading to sodium retention, potassium loss, and suppression of the renin-angiotensin system. This results in resistant hypertension (high blood pressure), hypokalemia (low potassium levels)

How is Rare surgically correctable form of primary aldosteronism inherited?

Rare surgically correctable form of primary aldosteronism follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Rare surgically correctable form of primary aldosteronism typically begin?

Typical onset of Rare surgically correctable form of primary aldosteronism is adult. Age of onset can vary across affected individuals.