Porphyrias, Hepatic
Conditions
Keywords
acute intermittent porphyria, myocardial injury, heart failure, hypertension, cardiac arrhythmia, cardiovascular risk factors, lipid profile, quality of life
Brief summary
This study aims to assess the changes in the cardiovascular system in patients with acute intermittent porphyria (AIP).
Detailed 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.
Interventions
None listed
Sponsors
Institute of Hematology and Transfusion Medicine, Warsaw
National Institute of Cardiology, Warsaw, Poland
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 65 Years
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of participants with heart failure and left ventricular dysfunction. | day 1 and up to 2 years in case of the exacerbation of AIP | Heart failure and left ventricular dysfunction assessed by symptoms and echocardiography. |
| Number of participants with hypertension. | day 1 and up to 2 years in case of the exacerbation of AIP | Arterial hypertension diagnosed by ambulatory 24-hour blood pressure monitoring. |
| Rate of cardiac arrhythmias. | day 1 and up to 2 years in case of the exacerbation of AIP | Cardiac arrhythmias observed in 24-hour ECG monitoring. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Number of participants with dyslipidemia. | day 1 | Dyslipidemia defined as the concentrations of total cholesterol \> 190 mg/dL, low density lipoprotein (LDL) cholesterol \> 115 mg/dL, high density lipoprotein (HDL) cholesterol \< 48 mg/dL (female), \< 40 mg/dL (male), triglycerides \> 150 mg/dL. |
| Number of participants with increased concentrations of markers of heart failure. | day 1 and up to 2 years in case of the exacerbation of AIP | Concentration of N-terminal pro-B-type natriuretic peptide (NT-proBNP) \> 125 pg/mL in serum. |
| Level of quality of life. | day 1 | Physical and mental components defined by the Short Form 36 survey (SF36). Answers are weighted and transformed into scores in a scale ranging from 0 (the lowest possible level of functioning) to 100 (no restrictions). |
| Number of participants with diabetes. | day 1 | Diabetes in anamnesis or the concentration of glycated hemoglobin \> 6.5%. |
| Number of participants with increased concentrations of markers of myocardial injury. | day 1 and up to 2 years in case of the exacerbation of AIP | Concentration of high sensitivity troponin T \> 14 ng/L in serum. |
| Number of participants with chronic kidney disease. | day 1 and up to 2 years in case of the exacerbation of AIP | Renal function defined by estimated glomerular filtration rate based on the concentrations of creatinine in serum. |
Countries
Poland
Outcome results
None listed