Essential fatty acid deficiency in relation to genotype in patients with cystic fibrosis

Objective: To determine if the serum phospholipid Catty acid pattern in pat ients with cystic fibrosis (CF) was related to the major cystic fibrosis tr ansmembrane conductance regulator gene mutations. Methods: Patients with CF (n = 110) aged 3 months to 56 years were studied. Serum samples were analyzed for phospholipid fatty acid with gas-liquid ch romatography, and cystic fibrosis transmembrane conductance regulator mutat ions were determined with standard methods. Results: Patients with CF had significantly lower molar percentages of lino leic acid and docosahexaenoic acid in the serum phospholipid than healthy c ontrols (mean standard deviation, 20.3 +/- 4.5 and 2.6 +/- 0.9 vs 22.4 +/- 2.2 and 3.1 +/- 0.7, respectively; P < .001). Palmitoleic and oleic acids w ere significantly increased (P < .001) but arachidonic acid was not differe nt from controls. Homozygotes for Delta F508 and heterozygotes/homozygotes for 394delTT showed significantly lower concentrations of linoleic acid and docosahexaenoic acid than the other groups. Low values were not correlated to anthropometric data or lung function. Patients with pancreatic insuffic iency showed similar differences to those with sufficient pancreatic functi on, reflecting the different genotypes. Conclusion: Serum concentrations of linoleic acid and docosahexaenoic acid were significantly lower in patients with severe cystic fibrosis transmembr ane conductance regulator mutations, suggesting an association between the basic defect and abnormal essential fatty acid metabolism in CIF patients.