Abstract: PO2121
Attention to the "Liddle" Details
Session Information
- CVD, BP, and Kidney Diseases: Exploring the Link
October 22, 2020 | Location: On-Demand
Abstract Time: 10:00 AM - 12:00 PM
Category: Trainee Case Report
- 1402 Hypertension and CVD: Clinical, Outcomes, and Trials
Authors
- Coppola fasick, Stefano, Louisiana State University Health Sciences Center Shreveport, Shreveport, Louisiana, United States
- Sequeira, Adrian P., Louisiana State University Health Sciences Center Shreveport, Shreveport, Louisiana, United States
- Onyirimba, James O., Louisiana State University Health Sciences Center Shreveport, Shreveport, Louisiana, United States
Introduction
Laboratory data provide clues to the etiology of resistant hypertension. We present one such case where in a presumptive diagnosis of Liddle’s syndrome was made, and appropriate therapy initiated. Yet the hypertension failed to be controlled despite multiple antihypertensives.
Case Description
A 26-year-old African American male was evaluated 8 years ago for a history of resistant hypertension. He was compliant with five blood pressure medications yet his systolic blood pressures were greater than 180mmHg. He denied smoking or consuming licorice products. No family history of early deaths, hypertension, or strokes. He reported having early onset of puberty at around age 12, being taller than his peers and now being short as an adult. He was a thin individual with no abdominal striae. Investigations revealed hypokalemia with mild metabolic alkalosis along with low renin and aldosterone. His kidney ultrasound was normal as were his renal functions and free metanephrines. 24-hour urine cortisol was not elevated. A presumptive diagnosis of Liddle’s syndrome was made and amiloride was added to his anti-hypertensive regimen, with little effect on BP control. Over the subsequent years, he was admitted repeatedly for hypertensive emergencies. This led to changes in his regimen along with a trial of Aldactone with no benefit. During one such episode, he complained of retrosternal pain. A CT was done to rule out a dissecting aneurysm, but it revealed a 5cm adrenal mass. Work up revealed high deoxycorticosterone, 11 deoxycortisol, dehydroepiandrostenedione sulphate and testosterone which was suggestive of 11-hydroxylase deficiency causing congenital adrenal hyperplasia (CAH) He was started on dexamethasone 2 mg daily and his blood pressure control began showing improvement.
Discussion
CAH due to 11-hydroxylase deficiency is commonly seen in Sephardic Jews. It presents with features suggestive of mineralocorticoid excess. The differential diagnoses are Liddle’s syndrome, Chrousos syndrome, syndrome of apparent mineralocorticoid excess and Geller syndrome. This patient was wrongly diagnosed which led to repeated hospitalizations with inadequate therapy. Liddle’s syndrome responds well to amiloride without the need for additional medications. The fact that he was on multiple medications in addition to amiloride should be a clue to the misdiagnosis.