Genetic Predisposition to High Blood Pressure

Linköping University (LiU)

Status: Invitation-only

Conditions: Hypertension; Genetic Predisposition to Disease; Primary Aldosteronism

Treatments: Procedure: Adrenalectomy

Study type: Interventional

Funder types: Other

Identifiers

NCT07181213

Dnr 2024-07874-01

Details and patient eligibility

About

Primary aldosteronism (PA) is a known but underdiagnosed cause of high blood pressure. It is estimated that more than 10% of all people with high blood pressure (HT) suffer from PA, which is often caused by aldosterone-producing adrenal cortical tumors (APAs).

In a pilot study with 35 patients with APAs leading to hypertension, the investigators have identified a genetic variant in a presumed Calcium-channel gene. The variant was significantly overrepresented in patients with APAs compared to the normal population (12% compared to approximately 4%). Interestingly, all patients having APAs and the variant were men.

The SCAPIS study is a world-unique Swedish research study in the field of heart/lungs, in which 30,000 randomly selected people between the ages of 50-64 participated. The study is a collaboration between the universities of Gothenburg, Lund, Linköping, Uppsala and Umeå, as well as the Karolinska Institute in Stockholm. In Linköping, about 5,000 persons participated.

The investigators have now screened 4762 persons from the SCAPIS study for this variant and found it in little less than 6%. Overall, patients with the variant had more often been diagnosed with HT and were mote often treated for HT as well. Interestingly, this difference was only found in men.

The investigators now want to investigate the following:

1. identify those persons with the genetic variant and HT that have PA,
2. identify those persons with PA that have APAs/unilateral disease,
3. identify how many patients with APAs/unilateral disease can be cured by surgery.

Enrollment: 76 estimated patients

Sex: All

Ages: 50+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• patients that participated in the SCAPIS study
• patients that have a particular genetic variant
• patients that have hypertension

Exclusion criteria

• patients who do not want to participate
• patients who cannot give consent
• patients who are too sick to be operated

Trial design

Primary purpose: Screening

Allocation: Non-Randomized

Interventional model: Single Group Assignment

Masking: None (Open label)

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76 participants in 2 patient groups

Presence of unilateral primary aldosteronism in patients with genetic variant and hypertension

Active Comparator group

Description:

Unilateral adrenalectomy is offered

Treatment:

Procedure: Adrenalectomy

Presence of bilateral primary aldosteronism in patients with genetic variant and hypertension

No Intervention group

Description:

Medical treatment is offered