Abstract Background Acute hepatic porphyrias (AHP) are metabolic disorders caused by genetically determined defects in heme biosynthesis pathway. The most common is acute intermittent porphyria (AIP). Its symptoms include abdominal pain, vomiting, paresis, mental disturbance, elevated blood pressure and tachycardia. Data regarding the influence of AIP on cardiovascular risk factors are scarce. Purpose The aim of this study was to assess lipid profiles in patients with AIP. Methods This case-control prospective AIPRACUS study included patients at the age of 18-65 years who had at least one attack of AIP in their lifetime. The control group was recruited from volunteers matched by age, sex and body mass index. The concentrations of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), non-HDL-C and triglycerides were assessed. Atherogenic coefficient (AC) was defined as a ratio of non-HDL-C to HDL-C. The excretion of porphobilinogen (PBG) and 5-aminolevulinic acid (ALA) in urine was quantified in both groups. Results The total number of 90 patients with AIP were enrolled to the study between April 2019 and December 2023. Clinical characteristics and laboratory findings in both groups are presented in Table 1. Two patients with AIP and four subjects in the control group were treated with statins (P=0.682). The maximal values of HDL-C were 190 mg/dl in the population with AIP and 96 mg/dl in the control group. The histograms are demonstrated in Figure 1. Levels of HDL-C correlated positively with PBG (r=0.36, P0.001) and ALA (r=0.30, P=0.004) concentrations in urine, and negatively with body mass index (r=-0.50, P0.001). In three patients evaluated also during attacks of AIP, HDL-C was 200, 203 and 207 mg/dl. In order to assess the distribution of HDL-C concentrations in our laboratory, we analysed 231,359 measurements performed between 2015 and 2024. The highest results were from five patients with AHP, four with AIP and one with variegate porphyria. Conclusions Lipid profiles in patients with AIP differ from those of the population of similar sex, age and body mass index. Although recent studies showed that very high levels of HDL-C may be harmful, their role in patients with AHP remains to be discovered. The results of our study also indicate that extremely high HDL-C in patients with severe abdominal pain, neurological complications and/or dark urine should prompt the inclusion of AHP in the differential diagnosis.Table 1 Figure 1
Jaworski et al. (Sat,) studied this question.