Age of Presentation in Liddle Syndrome
Liddle syndrome typically presents during adolescence or young adulthood, with most patients developing symptoms between ages 11-30 years, though presentation can range from early childhood to the fourth decade of life. 1, 2, 3
Typical Age Range
The most common age of presentation is during the teenage years through early adulthood (ages 11-30 years), with the diagnosis often established before age 30. 1, 4
In a large Chinese screening study of young hypertensive patients, Liddle syndrome was diagnosed in patients aged 14-40 years, with affected individuals demonstrating earlier onset of hypertension compared to those with essential hypertension. 4
Case reports document diagnosis as early as age 13 years in a proband who presented with hypertension and hypokalemia, leading to subsequent diagnosis of his 42-year-old father who had been misdiagnosed for 30 years. 2
Pediatric Presentations
Adolescent presentations are well-documented, including a 16-year-old normotensive girl who presented with muscle cramps and hypokalemia, and a 13-year-old boy with hypertension and significant family history. 2, 5
The condition can present in childhood, though this is less common than adolescent or young adult onset. 1
Adult Presentations
While most cases present before age 30, diagnosis can occur later in life, particularly when the condition has been previously misdiagnosed as primary aldosteronism or essential hypertension. 2, 3
A 32-year-old proband and 35-year-old female have been reported, though these patients likely had earlier symptom onset that went unrecognized. 3, 6
Key Clinical Context
The early-onset nature of hypertension is a critical diagnostic clue—patients with Liddle syndrome present with hypertension significantly earlier than those with essential hypertension and typically have a strong family history. 4
The variable and nonspecific clinical phenotypes contribute to frequent misdiagnosis, with many patients incorrectly treated for primary aldosteronism for years before correct diagnosis. 2, 3
Genetic testing is essential for definitive diagnosis, as the clinical presentation alone cannot distinguish Liddle syndrome from other causes of early-onset hypertension with hypokalemia. 2, 3, 5
Important Diagnostic Considerations
Screening should focus on young hypertensive patients (particularly those under age 40) with early penetrance, hypokalemia, suppressed plasma renin activity, and strong family history after excluding common secondary causes. 4
The prevalence among young hypertensive patients of undetermined cause may be as high as 1.52%, making it an important etiology to consider in this population. 4
Early diagnosis and treatment are crucial to prevent target organ damage, particularly in pediatric patients where dosing of ENaC blockers requires adjustment based on weight and age. 1