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Primary aldosteronism

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Updated 2024 Endo-ERN guidelines for the diagnosis and management of familial hyperaldosteronism.

Background

Overview

Definition
Primary hyperaldosteronism is an endocrine disorder characterized by excessive secretion of aldosterone from the adrenal glands.
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Pathophysiology
Hypersecretion of aldosterone may be due to neoplasia of the adrenal glands (adrenal adenoma or adrenocortical carcinoma), adrenal hyperplasia (typically bilateral), mutations in genes coding for enzymes involved in aldosterone synthesis (familial hyperaldosteronism), or may be idiopathic. Ectopic aldosterone-producing adenoma or carcinoma accounts for < 0.1% of cases.
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Epidemiology
In patients with secondary hypertension, the prevalence of primary hyperaldosteronism is estimated at 5-20%.
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Disease course
Increased plasma aldosterone leads to the clinical manifestations of resistant hypertension and hypokalemia. Untreated disease may result in early cardiovascular complications and CKD.
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Prognosis and risk of recurrence
Patients with PA have an increased risk of cardiovascular morbidity (including myocardial infarction, stroke, and AF) as compared with patients with matched controls with essential hypertension. The 10-year survival of patients with hyperaldosteronism is similar to that of matched hypertensive controls.
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Guidelines

Key sources

The following summarized guidelines for the evaluation and management of primary aldosteronism are prepared by our editorial team based on guidelines from the European Reference Network on Rare Endocrine Conditions (Endo-ERN 2024), the European Society of Cardiology (ESC 2024), the American Academy of Family Physicians (AAFP 2023), the Canadian Urological Association (CUA 2023), the American Association of Endocrine Surgeons (AAES ...
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Screening and diagnosis

Indications for testing, hypertension: as per Endo-ERN 2024 guidelines, obtain testing for PA in any patient with early-onset (age < 40 years) hypertension.
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  • Indications for testing (tumor)

Diagnostic investigations

Plasma aldosterone-to-renin ratio: as per Endo-ERN 2024 guidelines, obtain plasma aldosterone-to-renin ratio as the initial screening test for familial hypercholesterolemia.
A

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  • Confirmatory testing

  • Adrenal imaging

  • Genetic testing

  • Cardiac evaluation

  • Renal evaluation

Diagnostic procedures

Adrenal venous sampling: as per Endo-ERN 2024 guidelines, consider obtaining further evaluation, including adrenal venous sampling, in patients with early onset hyperaldosteronism, taking into account family history, adrenal imaging results, prior likelihood, and age, discussed in a multidisciplinary team setting.
C

Medical management

General principles: as per Endo-ERN 2024 guidelines, initiate treatment for familial hyperaldosteronism with the goal of normalizing BP, aldosterone-to-renin ratio, and potassium levels.
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  • Mineralocorticoid receptor antagonists

  • Conventional antihypertensives

  • Potassium-sparing diuretics

  • Corticosteroids

Nonpharmacologic interventions

Sodium restriction: as per Endo-ERN 2024 guidelines, advise reducing sodium intake in all patients with familial hyperaldosteronism and hypertension.
E

Perioperative care

Preoperative medical therapy
As per JES 2022 guidelines:
Initiate appropriate treatment for the complications before unilateral adrenalectomy to reduce the risks during general anesthesia and adrenalectomy, as the prevalence of resistant hypertension, hypokalemia and cardiovascular complications is higher in patients with unilateral PA than in patients with bilateral PA and essential hypertension.
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Initiate mineralocorticoid receptor antagonists as first-line therapy to control hypertension and hypokalemia before adrenalectomy.
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  • Postoperative monitoring

  • Postoperative corticosteroid replacement therapy

Surgical interventions

Indications for adrenalectomy: as per Endo-ERN 2024 guidelines, do not perform surgery in patients with familial hypercholesterolemia, as it is a bilateral disease. Consider performing surgery only in patients with familial hypercholesterolemia type III if BP is not normalized after optimal therapy.
D

Specific circumstances

Pregnant patients: as per Endo-ERN 2024 guidelines, normalize BP levels in female patients with familial hypercholesterolemia planning for pregnancy and obtain strict monitoring of potassium and BP levels during pregnancy.
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Follow-up and surveillance

Follow-up: as per Endo-ERN 2024 guidelines, obtain clinical and biochemical follow-up every 3-6 months.
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