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 PA more likely.
May be of early onset in familial hyperaldosteronism types I, II, III, and IV.[16][17][20][21][47][48][105]
uncommon
presence of risk factors
Risk factors include: family history of primary aldosteronism and family history of early onset (e.g., <40 years) hypertension and/or stroke.
Other diagnostic factors
common
age 20 to 70 years
nocturia, polyuria
Whether or not hypokalaemic.[7]
lethargy
Whether or not hypokalaemic.
mood disturbance (irritability, anxiety, depression)
Whether or not hypokalaemic.
difficulty concentrating
Whether or not hypokalaemic.
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][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 of 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 FH-III may be severe enough to cause early stroke (usually of the haemorrhagic 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