What is the Liddle-like Syndrome?

Liddle Syndrome: Key Symptoms and Diagnosis

Liddle syndrome is a form of inherited hypertension or high blood pressure. People suffering from this disorder typically experience signs of hypertension early in life which appears to be fairly unusual. If left untreated, liddle-like syndrome can cause a stroke or chronic heart disease.

Knowing About the Liddle Syndrome in More Detail

Liddle-like syndrome is often referred to as pseudoaldosteronism by medical experts. It is a rare genetic condition that gradually causes the dysfunction of kidneys. As a result, the affected person eventually suffers from hypertension.

Currently, medical researchers have not found a permanent cure for this syndrome. However, most individuals can manage the symptoms and progress of the disorder through ongoing medical care.

What are the Different Types of Liddle Syndrome?

Depending on the type of underlying gene mutation, doctors have classified the Liddle-like syndrome into three categories:

• Liddle Syndrome Type 1: This disorder happens because of a mutation in the SCNN1B gene.
• Liddle Syndrome Type 2: In this condition, scientists have studied noticeable changes in the SCNN1G gene.
• Liddle Syndrome Type 3: This disease occurs as a result of a mutation in the SCNN1A gene.

What are the Symptoms of Liddle's Syndrome?

Beyond high blood pressure, there are certain clinical hallmarks of patients who might be suffering from Liddle syndrome. These include:

• Hypertension before reaching 35 years of age (it has been seen that this scenario is backed by genetic mutations in 92% of the cases)
• Muscle weakness arising from hypokalemia (about 60-75% of Liddle syndrome patients show this trait)
• Metabolic alkalosis (this is a condition where a person’s blood pH level goes beyond the normal range thus causing prolonged vomiting or damage in kidneys)

Although many of these symptoms overlap with those of Gordon's syndrome, clinical experts often highlight the notable absence of edema as a key distinguishing feature of Liddle syndrome. In some cases, the affected children may be asymptomatic until hypertension complications emerge.

What are the Diagnostic Criteria for Liddle Syndrome?

The diagnosis of Liddle syndrome is approached in a clear, four-step process. First up, a designated team screens for resistant hypertension, which is when blood pressure readings exceed 140/90 mmHg even while taking three different antihypertensive medications.

Next, the doctors look at a biochemical triad for more conclusive evidence. This normally includes serum potassium levels dropping below 3.5 mmol/L, plasma renin activity at 0.6 ng/mL/hr or lower, and aldosterone levels of 15 ng/dL or less.

In the third step, your healthcare provider will conduct a pharmacological test. Here, if the blood pressure normalizes with amiloride (5-20 mg/day) and there is no response to spironolactone, it speaks for a positive outcome of the diagnosis.

The most vital step is genetic testing. Sanger sequencing of the SCNN1A, SCNN1B, and SCNN1G genes has an impressive 87% detection rate for known pathogenic variants. Finally, doctors need to rule out other possible diagnoses, such as apparent mineralocorticoid excess syndrome, congenital adrenal hyperplasia, and primary hyperaldosteronism.

How to Navigate Challenges Related to Liddle Syndrome?

Despite the numerous diagnostic challenges of Liddle-like syndrome, advancements in genetic testing and targeted treatments offer new rays of hope.

Though it goes without saying, a timely assessment is crucial for people with resistant hypertension.

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