Fatty Acid Abnormalities in Cystic Fibrosis

Farrell, Philip M.; Mischler, Elaine H.; Engle, Michael J.; Brown, D J; Lau, Sarah

doi:10.1203/00006450-198501000-00028

Cited by 149 publications

(148 citation statements)

References 25 publications

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“…Reduced concentrations of LA in plasma and tissues have been found in CF patients (8,12,13 ) as well as in our CF population. Concentrations of AA have proved more variable in different studies, including values that were significantly decreased (21,22 ) or not different (12,(22)(23)(24)(25) compared with controls. Our CF patients presented a slight but significant decrease in plasma AA concentrations.…”

Section: Discussionmentioning

confidence: 99%

Influence of Pancreatic Status and Sex on Polyunsaturated Fatty Acid Profiles in Cystic Fibrosis

Coste¹,

Deumer²,

Reychler

et al. 2008

Clinical Chemistry

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Background: Some but not all studies have reported abnormal polyunsaturated fatty acid composition in cystic fibrosis (CF) patients. We investigated the influence of pancreatic status and sex on the fatty acid profile in plasma and erythrocyte membranes in patients with CF. Methods: After a 1-step transesterification with acetyl chloride on plasma and washed erythrocyte membranes, we quantified fatty acid methyl esters by use of GC-MS in 124 CF patients and 80 age-matched healthy controls. In the CF group, mean (SD) age was 17.5 (11.3) years, and 51.6% were male. Pancreatic insufficiency was diagnosed in 78% of the CF population. Results: A decrease in docosahexaenoic acid concentrations was observed in CF patients independently of pancreatic status. Pancreatic insufficient CF patients displayed lower concentrations of linoleic acid and arachidonic acid and higher concentrations of dihomo-γ-linolenic acid and eicosatrienoic acid (mead acid) in plasma and erythrocyte membranes compared with healthy controls and pancreatic sufficient CF patients. Male CF patients had significantly lower docosahexaenoic acid and higher eicosatrienoic acid in plasma and erythrocyte membranes compared with female CF patients. Conclusions: These results support the concept that multiple abnormalities of polyunsaturated fatty acid composition participate in the CF disease phenotype and that pancreatic status plays a major role in such abnormalities. Moreover, patient sex influences the polyunsaturated fatty acid spectrum in CF, with more marked abnormalities in males.

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Section: Discussionmentioning

confidence: 99%

Influence of Pancreatic Status and Sex on Polyunsaturated Fatty Acid Profiles in Cystic Fibrosis

Coste¹,

Deumer²,

Reychler

et al. 2008

Clinical Chemistry

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“…Changes in concentrations of selected essential fatty acids have been found in CF patients, notably decreases in the plasma and tissue concentrations of linoleic acid (18:2 n-6) and docosahexaenoic acid (DHA; 22:6 n-3). Increases in the concentration of eicosatrienoic acid (Mead acid; 20:3 n-9) have been identified in several studies (5)(6)(7). These alterations in fatty acid concentrations are significantly magnified in patients with severe variations in the CF transmembrane conductance regulator (CFTR) 5 gene, suggesting an association between the basic defect and abnormal essential fatty acid metabolism in CF patients (3 ).…”

confidence: 99%

“…Altered plasma and tissue concentrations of fatty acids in cystic fibrosis (CF) 4 patients have been well described (1)(2)(3)(4)(5)(6)(7). Changes in concentrations of selected essential fatty acids have been found in CF patients, notably decreases in the plasma and tissue concentrations of linoleic acid (18:2 n-6) and docosahexaenoic acid (DHA; 22:6 n-3).…”

confidence: 99%

“…These alterations in fatty acid concentrations are significantly magnified in patients with severe variations in the CF transmembrane conductance regulator (CFTR) 5 gene, suggesting an association between the basic defect and abnormal essential fatty acid metabolism in CF patients (3 ). It is unclear how CFTR variation leads to the dysregulation of fatty acid biosynthesis, but these fatty acid abnormalities are clearly not attributable to pancreatic insufficiency and malabsorption in CF patients (5)(6). The metabolism of essential fatty acids involves a metabolic sequence of specific enzymes that desaturate, elongate, or shorten the fatty acids.…”

confidence: 99%

“…Increases in the concentration of eicosatrienoic acid (Mead acid; 20:3 n-9) have been identified in several studies (5)(6)(7). These alterations in fatty acid concentrations are significantly magnified in patients with severe variations in the CF transmembrane conductance regulator (CFTR) 5 gene, suggesting an association between the basic defect and abnormal essential fatty acid metabolism in CF patients (3 ). It is unclear how CFTR variation leads to the dysregulation of fatty acid biosynthesis, but these fatty acid abnormalities are clearly not attributable to pancreatic insufficiency and malabsorption in CF patients (5)(6).…”

confidence: 99%

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Potential Utility of Plasma Fatty Acid Analysis in the Diagnosis of Cystic Fibrosis

et al. 2007

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Background: An altered distribution of fatty acids in cells and tissues is found in patients with cystic fibrosis (CF). In this study, we assessed the potential role of plasma fatty acid analysis in the diagnosis of CF. Methods: In this 2-part study, we first used gas chromatography–mass spectrometry to analyze fatty acids in plasma from 13 CF patients and 11 controls without CF. We then used the fatty acid distribution data to identify the fatty acids or multiple fatty acid calculations most effective in identifying CF patients. Part 2 of the study was a blinded analysis of 10 CF patients and 9 controls to directly test the effectiveness of the diagnostic parameters for CF identified from the plasma fatty acid analysis. Results: In the nonblinded trial, the multiplication product of (18:2 n-6) × (22:6 n-3) (each as percentage of total plasma fatty acid) was the most effective indicator for distinguishing patients with CF from controls (P = 0.0003). In part 2 (the blinded trial), this multiplication product was also the most effective indicator for distinguishing CF patients from controls (P = 0.0008). Conclusions: The product of (18:2 n-6) × (22:6 n-3) is effective for distinguishing CF patients from persons without CF. This diagnostic marker may have value as an alternative to the sweat chloride test in selected patients being evaluated for CF.

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Cystic Fibrosis Presenting With Dermatitis

Wenk¹,

Higgins²,

Greer³

2010

Arch Dermatol

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Background Patients with cystic fibrosis classically present with evidence of pulmonary disease, exocrine pancreatic insufficiency, and high sweat chloride concentrations. Dermatitis as an initial manifestation of the disease is uncommon and has been attributed to multiple nutritional deficiencies. Observation We describe the case of a 3-month-old female infant with cystic fibrosis presenting with dermatitis in the setting of protein-energy malnutrition. A review of the laboratory study results in this case and others showed that a deficiency in zinc, essential fatty acids, and protein likely contributes to the development of the rash seen in cystic fibrosis. Conclusions Given the frequent delay in diagnosis, as well as the increased morbidity and mortality associated with protein-energy malnutrition in these patients, it is important to consider cystic fibrosis as a possible diagnosis in any infant presenting with a rash and other signs of malnutrition. The relative contribution of specific nutritional deficiencies and the degree to which they influence and interact with each other in producing the dermatitis remain unclear, although they may all affect a common underlying metabolic pathway

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Fatty Acid Abnormalities in Cystic Fibrosis

Cited by 149 publications

References 25 publications

Influence of Pancreatic Status and Sex on Polyunsaturated Fatty Acid Profiles in Cystic Fibrosis

Influence of Pancreatic Status and Sex on Polyunsaturated Fatty Acid Profiles in Cystic Fibrosis

Potential Utility of Plasma Fatty Acid Analysis in the Diagnosis of Cystic Fibrosis

Cystic Fibrosis Presenting With Dermatitis

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