Primary aldosteronism

Overview 
Theory 
Diagnosis 
Management 
Follow up 
Resources 

Screening for PA in people with hypertension

primary aldosteronism (PA) is the most common specifically treatable and potentially curable form of hypertension. It accounts for at least 5% of hypertensive patients, with most patients being normokalaemic. Optimal detection involves screening all hypertensive patients using the plasma aldosterone/renin ratio, after controlling for factors (including medicines) that may confound results. See Diagnostic approach.

Familial hyperaldosteronism type I (FH-I)

Screening should be offered to relatives (whether hypertensive or normotensive) of patients found to have FH-I because:[22][91]

FH-I progresses through an asymptomatic (including normotensive) phase
The implications of missing the diagnosis of this condition (which can lead to severe, resistant hypertension and early death from hypertensive stroke) are considerable.

This is most effectively accomplished by genetic testing of peripheral blood DNA for the presence of the causative hybrid gene.[22][91] Being a dominantly inherited condition, family screening can lead to the detection of large numbers of affected individuals who would then be candidates for close clinical monitoring and more timely commencement of highly effective, specific medical treatment.[22][91]

Familial hyperaldosteronism type II (FH-II)

Screening should be offered to hypertensive relatives of patients with FH-II, and especially to those known to have developed hypertension before the age of 18 years. This can be accomplished by direct sequencing of peripheral blood DNA for the presence of the CLCN2 mutation found to be present in the proband. Early detection facilitates early institution of effective, specific treatment with medicines that antagonise aldosterone action.[17][114]

Familial hyperaldosteronism type III (FH-III)

Screening should be offered to hypertensive relatives of patients with FH-III, and especially to those known to have developed hypertension before the age of 18 years. This can be accomplished by direct sequencing of peripheral blood DNA for the presence of the KCNJ5 mutation found to be present in the proband. Early detection facilitates early institution of effective, specific treatment (either aldosterone antagonist medicines, or, for those with severe forms, bilateral adrenalectomy).[16][47]

Familial hyperaldosteronism type IV (FH-IV)

Screening should be offered to hypertensive relatives of patients with FH-IV, and especially to those known to have developed hypertension before the age of 18 years. This can be accomplished by direct sequencing of peripheral blood DNA for the presence of the CACNA1H mutation found to be present in the proband. Early detection facilitates early institution of effective, specific treatment (either aldosterone antagonist medicines, or, for selected patients severe refractory disease, bilateral adrenalectomy).[37]

Familial hyperaldosteronism of unknown genetic aetiology

Screening should be offered to hypertensive relatives of patients with familial PA of unknown genetic aetiology because PA in more than one member of a family is not uncommon. As no genetic test is available, this is best done by aldosterone/renin ratio testing, performed according to the guidelines described in detail in the Diagnostic Approach section, and, if negative, repeated at least once after a gap of at least a year, or if plasma potassium falls or hypertension develops.

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