04112 Quantitative analysis of poly-unsatured fatty acids profiles in erythropoietic protoporphyria

Group (A) 11 patients (30-49 ys) and (B) 5 patients (51-70 ys).This analysis confirmed, better than BMI, an excess of fat mass (FM) in 64% of patients in A (7 on 1) and 40% in B (2 on 5).Excessive consumption of simple sugars, SFA results in an increase of 36% (4 on 7) in A and 80% (4 on 1) in B of blood LDL levels above the reference range (<100 mg/dL).The HDL level is above the normality (x=8320.3,>45 mg/dL) even though it is consumed by 7 on 16 AIP in low amounts with diet.Moreover, HDL correlates with age (r=0.56,p=0.02).Recent literature demonstrates that low and high HDL values have the same predisposition to mortality changing the paradigm that high HDL levels provide greater protection against cardiovascular diseases.This could suggest that high HDL may not play a completely protective role in AIP.In addition, by detecting BIA water distribution we found the ratio of extracellular water (ECW) to total body water (TBW) was above the normal range in 9 patients in A and 4 in B (v.n.0.36-0.4),indicating over-hydration in ECW.This data suggests inflammatory and stress status, as supported by the ECW/TBW ratio correlation with cortisol (r=0.67,p=0.008).In contrast, we did not find a correlation with ALA, PBG, or total porphyrins vs data on nutrition and BIA.In conclusion, we confirm our hypothesis that AIP patients excessively consume simple sugars and SFA.This behaviour is reflected in their body composition and biochemical markers.This finding highlights the importance of providing nutritional support to prevent metabolic syndrome.Particular attention should be paid to a larger sample size cohort to assess the significance of high HDL and the TBW/ECW ratio as markers of disease progression based on age or stress.