History and exam

Key diagnostic factors

common

hypertension

Any degree of severity and duration. A family history of hypertension was once thought to make a treatable cause less likely, but now, because of familial hyperaldosteronism type II, it makes primary aldosteronism more likely.

May be of early onset in familial hyperaldosteronism types I, II, III, and IV.[16][17]​​[20][21][47][48][107] ​

Other diagnostic factors

common

age 20 to 70 years

Most commonly occurs in adults aged 20 to 70 years, but occasionally diagnosed in children (familial hyperaldosteronism types I, II, III and IV but rarely other forms) and older adults.​[7][87]

nocturia, polyuria

Whether or not hypokalemic.[7]

lethargy

Whether or not hypokalemic.

mood disturbance (irritability, anxiety, depression)

Whether or not hypokalemic.

difficulty concentrating

Whether or not hypokalemic.

uncommon

paresthesias, muscle cramps

If hypokalemic.[56]

muscle weakness

If hypokalemic.[56]

palpitations

If hypokalemic.[56]

Risk factors

strong

family history of PA

There are at least 4 familial forms of primary aldosteronism (PA). An autosomal dominant pattern of inheritance is seen in familial hyperaldosteronism type I (FH-I), familial hyperaldosteronism type II (FH-II), familial hyperaldosteronism type III (FH-III), and familial hyperaldosteronism type IV (FH-IV).[4][13][17]​​​[22]​​[47][48]

FH-I, FH-II, FH-III, and FH-IV all appear to be rare (<1% of PA cases), but FH-I is currently the most commonly reported amongst these entities. The percentage of cases off familial hyperaldosteronism for which the underlying genetic basis has yet to be elucidated is around 6%, but the precise prevalence for each causative mutation will remain uncertain until these are identified, permitting genetic detection of affected individuals.[69]

The fact that patients with familial hyperaldosteronism of indeterminate genetic origin are clinically indistinguishable from those with apparently sporadic PA (which accounts for 5% to 10% of referred hypertensive patients) raises the possibility that mutations underlying PA in these families may account for a substantial proportion of PA cases in general.[4][13][22]

family history of early onset of hypertension and/or stroke

In familial hyperaldosteronism type I (FH-I), II (FH-II), III (FH-III), and IV (FH-IV), hypertension can be of early onset (e.g., <40 years of age) and in FH-I and FH-III may be severe enough to cause early stroke (usually of the hemorrhagic variety).[17][20][21]​​[47][48]

However, the prevalence of FH-I to IV among patients presenting in this way, and among their relatives, is unknown.

Use of this content is subject to our disclaimer