Acute Intermittent Porphyria Related Abnormalities in Cardiovascular System

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.