Patient Stories. Arterial hypertension

News 07/01/2019

A 37-year-old woman turned to the geneticist of the Center for Personalized Medicine of the MCSC with complaints about an increase in blood pressure to 170/90 mm Hg. According to the patient, this condition usually occurs against the background of stressful situations. For the first time, an increase in blood pressure was observed at the age of 25 during the first pregnancy. Previously, the patient was consulted and examined by a cardiologist. During the examination, diseases of the kidneys and endocrine system leading to arterial hypertension were excluded, the patient's body weight is within normal values. Thus, the reasons for high blood pressure figures in a young woman were not found.

When carefully collecting the family history, it turned out that the patient's sister suffers from arterial hypertension from the age of 35, and her father has hypertension from the age of 40.

Arterial hypertension (AH) is a multifactorial disease that manifests itself as a persistent increase in blood pressure above 140/90 mmHg, which leads to an increased risk of myocardial infarction, heart failure, stroke, kidney failure, and sudden death.

There are many causes of hypertension, in particular: obesity, alcohol abuse, excessive use of table salt, smoking, low physical activity, stress and psychological stress, as well as various endocrinological diseases, kidney diseases, etc. However, about 30% of cases of hypertension are caused by genetic defects in the blood pressure regulation system. The combination of individual features of the structure of the genes of the renin-angiotensin-aldosterone system leads to a significant increase in the risk of developing this disease. Molecular genetic testing allows you to perform a comprehensive assessment of the risks of developing a pathological condition, to make an individual plan of preventive and therapeutic measures in order to reduce the negative impact of gene characteristics.

To assess the contribution of hereditary factors and the selection of optimal treatment, the patient underwent a molecular genetic study: the determination of single-nucleotide variants in the ADD1, AGT, AGTR1, AGTR2, CYP11B2, GNB3, NOS3 genesassociated with an increased risk of hypertension.

The patient had revealed significant changes in genes AGT (704T>C and 521C>T), AGTR2 (1675G>A), CYP11B2 (–344C>T), GNB3 (825C>T) and NOS3 (-786T>C and 894G>T), was thus confirmed a significant contribution of hereditary factors in the development of hypertension, revealed a high risk of complications. 

Consequently:

• recommendations are given for the selection of adequate antihypertensive therapy (aCEI therapy was supplemented with small doses of thiazide diuretics and statins)
• an individual periodic examination plan has been drawn up, including, in addition to standard tests, annual monitoring of angiotensin and aldosterone levels
• it is recommended to change the lifestyle (smoking cessation) and eating habits (compliance with a low-salt diet)
• recommended follow-up with a therapist, cardiologist, consultation with an ophthalmologist
• the patient's blood relatives were invited to the examination, taking into account the high hereditary risks.

At the moment, the patient's condition has significantly improved: the level of blood pressure has normalized. The patient's relatives are also examined by a geneticist at the Center for Personalized Medicine.

We remind you that timely diagnosis of predispositions to various diseases allows you to take measures to prevent their development, and in the case of an existing diagnosis – to prescribe personalized treatment and an individual program of periodic examination.

#Переведено YandexTranslate