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: * 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.
Study Type
OBSERVATIONAL
Enrollment
180
Institute of Hematology and Transfusion Medicine
Warsaw, Poland
National Institute of Cardiology
Warsaw, Poland
Number of participants with heart failure and left ventricular dysfunction.
Heart failure and left ventricular dysfunction assessed by symptoms and echocardiography.
Time frame: 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.
Time frame: 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.
Time frame: day 1 and up to 2 years in case of the exacerbation of AIP
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.
Time frame: 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.
Concentration of high sensitivity troponin T \> 14 ng/L in serum.
Time frame: 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.
Time frame: 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.
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Time frame: day 1
Number of participants with diabetes.
Diabetes in anamnesis or the concentration of glycated hemoglobin \> 6.5%.
Time frame: 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).
Time frame: day 1