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| Name | Class |
|---|---|
| Institute of Hematology and Transfusion Medicine, Warsaw | OTHER |
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This study aims to assess the changes in the cardiovascular system in patients with acute intermittent porphyria (AIP).
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:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with acute intermittent porphyria (AIP) | 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 | People recruited from the general population and matched by age, sex and body mass index. |
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| Measure | Description | Time Frame |
|---|---|---|
| Number of participants with heart failure and left ventricular dysfunction. | Heart failure and left ventricular dysfunction assessed by symptoms and echocardiography. | day 1 and up to 2 years in case of the exacerbation of AIP |
| Number of participants with hypertension. | Arterial hypertension diagnosed by ambulatory 24-hour blood pressure monitoring. | day 1 and up to 2 years in case of the exacerbation of AIP |
| Rate of cardiac arrhythmias. | Cardiac arrhythmias observed in 24-hour ECG monitoring. | day 1 and up to 2 years in case of the exacerbation of AIP |
| Measure | Description | Time Frame |
|---|---|---|
| Number of participants with increased concentrations of markers of heart failure. | Concentration of N-terminal pro-B-type natriuretic peptide (NT-proBNP) > 125 pg/mL in serum. | day 1 and up to 2 years in case of the exacerbation of AIP |
| Number of participants with increased concentrations of markers of myocardial injury. |
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Inclusion Criteria:
Exclusion Criteria:
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The patients with acute intermittent porphyria (AIP) meeting the eligibility criteria and people from the general population, matched by age, sex and body mass index.
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| Name | Affiliation | Role |
|---|---|---|
| Krzysztof Jaworski, MD | National Institute of Cardiology, Warsaw, Poland | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Institute of Hematology and Transfusion Medicine | Warsaw | 02-776 | Poland | |||
| National Institute of Cardiology |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 42106273 | Derived | Jaworski K, Wasilewski R, Windyga J, Kowalik I, Szwed H, Lipniacka A, Niedolistek M, Was J, Januszewicz A, Kreutz R, Messerli F, Dabrowski R. Hypertension and blood pressure profiles in patients with acute intermittent porphyria: a prospective case-control study. Eur J Intern Med. 2026 May 8:106920. doi: 10.1016/j.ejim.2026.106920. Online ahead of print. | |
| 39115302 |
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| ID | Term |
|---|---|
| D017094 | Porphyrias, Hepatic |
| D017118 | Porphyria, Acute Intermittent |
| D006333 | Heart Failure |
| D006973 | Hypertension |
| D001145 | Arrhythmias, Cardiac |
| ID | Term |
|---|---|
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D012873 | Skin Diseases, Genetic |
| D030342 | Genetic Diseases, Inborn |
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Concentration of high sensitivity troponin T > 14 ng/L in serum. |
| day 1 and up to 2 years in case of the exacerbation of AIP |
| Number of participants with chronic kidney disease. | Renal function defined by estimated glomerular filtration rate based on the concentrations of creatinine in serum. | day 1 and up to 2 years in case of the exacerbation of AIP |
| Number of participants with dyslipidemia. | 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. | day 1 |
| Number of participants with diabetes. | Diabetes in anamnesis or the concentration of glycated hemoglobin > 6.5%. | day 1 |
| Level of quality of life. | 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). | day 1 |
| Warsaw |
| 04-628 |
| Poland |
| Jaworski K, Wasilewski R, Windyga J, Januszewicz A, Szwed H, Dabrowski R. Cardiovascular abnormalities in patients with acute intermittent porphyria: the AIPRACUS study. Pol Arch Intern Med. 2024 Aug 8;134(7-8):16820. doi: 10.20452/pamw.16820. Epub 2024 Aug 8. No abstract available. |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D011164 | Porphyrias |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D014652 | Vascular Diseases |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |