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Abstract: SA-PO482

An Uncommon Case of Liddle Syndrome

Session Information

Category: Fluid‚ Electrolyte‚ and Acid-Base Disorders

  • 1002 Fluid‚ Electrolyte‚ and Acid-Base Disorders: Clinical

Authors

  • Pabon-Vazquez, Elizabeth, Mayaguez Medical Center, Mayaguez, Puerto Rico
  • Castillo, Jessica, Mayaguez Medical Center, Mayaguez, Puerto Rico
  • Rosaly Martinez, Jan Paul, Mayaguez Medical Center, Mayaguez, Puerto Rico
  • Rivera Sepulveda, Jose, Mayaguez Medical Center, Mayaguez, Puerto Rico
  • Pagan rivera, Bryan L., Mayaguez Medical Center, Mayaguez, Puerto Rico
Introduction

Hypertension is a medical condition affecting the population globally.Most of the patients are not aware of this disease until organ damage is present.Misdiagnosis of hypertension’s etiology will lead to poorly treated patients and increase risk of medical complications.For this reason, diagnosing and management of hypertension are fundamental in the primary and secondary prevention steps.

Case Description

A 52y/o male patient with a past medical history of hypertension.Whom had previously visited multiple physicians due to resistant hypertension.During endocrinologist evaluation, he was found with low potassium levels.However, patient denied any symptoms including weakness, fatigue, muscle cramps or palpitations.Patient has been treated for the past three years with oral potassium replacement.New laboratory bloodwork for secondary causes of hypertension were ordered.At follow up evaluation, patient was found with metabolic alkalosis, normal magnesium levels (2.0mg/dL), normal aldosterone and low renin levels, normal ACTH and cortisol, and normal catecholamines levels.Although, patient had been complaint with oral potassium replacement, he continued with asymptomatic hypokalemia.For this reason, patient was referred to nephrology services.Bloodwork was re-assed and results yield urine potassium spot of 27mmol/L.Since, He was started on amiloride 5mg daily.In the past 2 months for the first time,potassium levels have been between 3.0-3.1,without including potassium replacment.Patient responded successfully to therapy.Abdominal CT-scan was negative for adrenal mass. Genetic studies are under study, but patient’s clinical presentation and response behave as Liddle’s syndrome.

Discussion

Secondary causes of hypertension are medical condition that contributes to elevated blood pressure.Liddle syndrome is a rare genetic condition associated with abnormalities on the epithelial sodium channel (ENaC) at the collecting tubule.Classical presentation is young onset hypertension, associated with hypokalemia and metabolic alkalosis.Usually, a strong family history will lead the work-up and diagnosis.But, as in this case, no family history was relevant.Managing hypertension will require out of the box thinking.Controlling elevated blood pressure with medications, without identifying its etiology is not enough if patient’s wellbeing is the priority.