Acute Intermittent Porphyria Related Abnormalities in Cardiovascular System (AIPRACUS)

National Institute of Cardiology, Warsaw, Poland

Status: Completed

Conditions: Porphyrias, Hepatic

Study type: Observational

Funder types: Other

Identifiers

NCT05882136

2.39/VII/18

Details and patient eligibility

About

This study aims to assess the changes in the cardiovascular system in patients with acute intermittent porphyria (AIP).

Full description

Porphyrias are heterogeneous group of the disorders of heme biosynthesis. Acute intermittent porphyria (AIP) is the most common acute hepatic porphyria, caused by the mutations in the gene encoding hydroxymethylbilane synthase. Clinical symptoms i.e. abdominal pain, nausea, vomiting, paresis or paralysis, coma and/or mental abnormalities may be induced by many porphyrinogenic factors, such as drugs, alcohol, starvation or stress. The symptoms are often accompanied by tachycardia and elevated blood pressure. Due to the non-specific clinical picture, AIP is often diagnosed too late and causes a threat to the patients' lives.

There is a scarcity of data regarding the changes in cardiovascular system in patients with AIP. The aim of this study is to assess the structure and function of heart in patients with this disease. The prevalence of hypertension, cardiac arrhythmias and selected cardiovascular risk factors in patients with AIP will also be evaluated.

This is a case-control study with prospective observation of the subgroup of patients examined during the exacerbations of AIP.

Specific goals:

• assessment of the cardiac morphology and function,
• assessment of the concentrations of markers of myocardial injury (troponin T) and heart failure (NT-proBNP),
• assessment of the prevalence of cardiac arrhythmias and electrocardiographic abnormalities,
• assessment of the blood pressure profiles,
• assessment of selected cardiovascular risk factors,
• assessment of quality of life,
• assessment of clinical and biochemical factors associated with the pathological findings in patients with AIP.

Enrollment: 180 patients

Sex: All

Ages: 18 to 65 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• acute intermittent porphyria (AIP),
• age 18-65 years,
• at least one hospitalization due to exacerbation of AIP.

Exclusion criteria

• previous myocardial infarction,
• heart failure of established (other than porphyria) etiology,
• severe heart valve disease,
• congenital heart defects,
• history of myocarditis,
• pacemaker,
• hyperthyroidism / hypothyroidism (except for adequate thyroid hormone replacement therapy),
• chronic advanced lung diseases,
• lack of consent to participate in the study.

Trial design

180 participants in 2 patient groups

Patients with acute intermittent porphyria (AIP)

Description:

Patients aged 18-65 (men and women) with acute intermittent porphyria and at least one episode of exacerbation of this disease requiring admission to the hospital

Control group

Description:

People recruited from the general population and matched by age, sex and body mass index.