Are you aware about the Monogenic forms of Hypertension?

We all are familiar with the term ‘Hypertension’ – it is a chronic medical condition, where blood pressure in the arteries is persistently high. Hypertension affects nearly one billion people globally, and the figure is likely to increase up to 1.5 billion by the year 2025. But are you aware of the monogenic forms of the condition?

Monogenic forms of hypertension occur due to single genetic mutations influenced somewhat by environmental factors. In most cases, the monogenic forms of hypertension affect either the activity or synthesis of mineralocorticoid hormones or the movement of electrolytes in the distal nephron. This leads to the common pathogenic mechanisms of increased distal tubular reabsorption of chloride and sodium, plasma volume expansion, as well as hypertension.

Various Monogenic Forms of Hypertension

You should be aware of the different genetic conditions of hypertension –

• Liddle syndrome – A genetic disorder acquired in an autosomal dominant manner, Liddle syndrome is characterized by the early and frequently severe onset of high blood pressure linked with metabolic alkalosis, low plasma rennin activity, low levels of potassium in the blood, and low to normal levels of aldosterone.

• Gordon syndrome – It is an autosomal dominant disease characterized by hyperkalemia due to weakened potassium excretion, salt-dependent high blood pressure, and metabolic acidosis resulting from reduced urinary H+ excretion.

• Mineralocorticoid excess – AME or Apparent Mineralocorticoid Excess refers to an autosomal recessive disorder characterized by hypokalemia, hypertension, hypoaldosteronism, and low renin. The condition results from the deficiency of 11β-hydroxysteroid dehydrogenase. This leads to the damage of the peripheral metabolism of cortisol to cortisone.

In young adults with a family history of high blood pressure presenting refractory or severe hypertension and characteristic biochemical and hormonal abnormalities, the monogenic forms of hypertension should be included in the differential diagnosis.

Genetic testing can help to diagnose and treat these comparatively uncommon disorders early so that the underlying disease can be cured and the long-term consequences of poorly controlled high blood pressure can be prevented.