High Prevalence of Liddle Syndrome Phenotype Among Hypertensive US Veterans in Northwest Louisiana

Abstract

J Clin Hypertens (Greenwich). Liddle syndrome (LS) is an autosomal dominant disorder due to a gain‐of‐function mutation in the epithelial Na+ channel and is perceived to be a rare condition. A cross‐sectional study of 149 hypertensive patients with hypokalemia (<4 mmol/dL) or elevated serum bicarbonate (>25 mmol/dL) was conducted at a Veterans’ Administration Medical Center Hypertension Clinic in Shreveport, LA. Data on demographics, blood pressure, and select blood tests were collected and expressed as percentages for categoric variables and as mean ± standard deviation (SD) for continuous variables. Patients were diagnosed with likely LS when the plasma renin activity (PRA) was <0.35 μU/mL/h and the aldosterone was <15 ng/dL and likely primary hyperaldosteronism (PHA) with PRA <0.35 μU/mL/h and aldosterone level >15 ng/dL. The cohort included predominantly elderly (67.1±13.4 years), male (96%), and Caucasian (57%) patients. The average blood pressure was 143.8/79.8 mm Hg±27.11/15.20 with 3.03±1.63 antihypertensive drugs. Based on the above criteria, 9 patients (6%) satisfied the criteria for likely LS and 10 patients (6.7%) were diagnosed with likely PHA. In this hypothesis‐generating study, the authors detected an unusually high prevalence of biochemical abnormalities compatible with likely LS syndrome from Northwestern Louisiana, approaching that of likely PHA. J Clin Hypertens (Greenwich). 2010;12:856–860.

Epithelial sodium channel (ENaC) family: Phylogeny, structure–function, tissue distribution, and associated inherited diseases

“…However, an extensive study that included a sample of 330 Chinese young hypertensive patients revealed that 1.5% of the patients had mutations associated with a loss of the PY motif (Wang et al, 2015). In a retrospective study in a cohort of 149 hypertensive US veterans, 6% were found to have biochemical abnormalities compatible with Liddle syndrome (Tapolyai et al, 2010). Thus, Liddle syndrome may be a common cause of monogenic hypertension in some populations (Padmanabhan et al, 2015).…”

Intensive risk factor control in stroke prevention

“…Variants of Liddle’s syndrome, a renal tubular sodium channel mutation that causes salt and water retention, accounted for 5% of hypertension in black people in the UK [43], 6% of hypertension in black people in South Africa (and 20% of the Khoi San people of the Kalahari) [44], and 6% of patients attending a Veterans Administration clinic in Louisiana [45]. The specific therapy for Liddle’s variants is amiloride.…”

Liddle Syndrome in Association with Aortic Dissection

“…Up until 2008, only 30 patients affected with this monogenetic disorder had been reported in the world [9]. Two small single-center studies have estimated the prevalence to be about 1.52% and 6% among hypertensive patients with genetic testing and phenotypical LS, respectively [3-4]. Our knowledge about LS is evolving, given its relative rarity.…”