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AAPI’S NUTRITION GUIDE TO OPTIMAL HEALTH: USING PRINCIPLES OF FUNCTIONAL MEDICINE AND NUTRITIONAL GENOMICS 5 Integrative And Functional Lab Tests Elizabeth Redmond, PhD, MMSc, RD, LD Integrative and Functional Medicine is patientcentered and health-oriented, and embraces the use of all appropriate therapeutic approaches whether they originate in conventional or alternative medicine [1]. Functional laboratory testing, which is an essential part of integrative and functional medicine, helps to identify core physiological and metabolic issues that may appear decades before disease symptoms. Advances in clinical laboratories and medical science have brought tremendous growth in laboratory testing that goes beyond standard markers [2]. Functional laboratory assessments involve the evaluation of even the most minor symptoms, which can indicate the beginning of a more serious cascade. This can be thought of as a ‘snowball’ effect in which seemingly minor imbalances within the body produce a cascade of biological triggers that can eventually lead to chronic illness. Functional laboratory assessment can catch the snowball before it leads to a diagnosed disease, when it can be treated early in the process. Core 38 nutritional imbalances are an essential part of integrative and functional medicine and include digestion, detoxification, energy metabolism, inflammation, neuro-endocrine-immune, nutritional status, oxidative stress and structural integrity. Testing can provide biomarkers that identify impairments in metabolic pathways, and clarify findings of a nutrition focused physical that can be an early warning of core imbalances [1]. The Triage theory as proposed by Bruce Ames, proposes that DNA damage and late onset of disease are a consequence of a triage allocation response to micronutrient scarcity [3]. Natural selection favors short-term survival at the expense of long-term health [4, 5]. For example, with limited vitamin K, the body will ensure the blood does not clot and will then only use vitamin K for bones once its priority has been taken care of. The theory also proposes that micronutrient triage is done in part through an adjustment of the binding affinity of proteins for required micronutrients. Thus an evaluation of nutrient status, vitamins, minerals, fatty and amino acids, as well as functional assessments, are all 2012
AAPI’S NUTRITION GUIDE TO OPTIMAL HEALTH: USING PRINCIPLES OF FUNCTIONAL MEDICINE AND NUTRITIONAL GENOMICS considered to be a part of a full integrative and functional laboratory assessment [1]. While diet records can provide estimates of mean and median intakes of nutrients, actual levels can be altered due to many factors, including nutrient quality of food or supplements, digestion and absorption, disease states, age, medications, activity level, genetics, biological differences, environment or stress. Any of these can lead to insufficiencies even in the face of perceived adequate intake, which can result in changes in cellular function before clinical symptoms develop. In later stages, physiological function can be impaired, resulting in symptoms or a diagnosed pathology. Utilizing functional laboratory testing can help identify insufficiencies before they progress. Another nutrient effect is that the binding affinity of enzyme responsiveness to co-factors can be adjusted by the level of co-factors within the system. An example is that all newborns get tested for inborn errors, including phenylketonuria (PKU; phenylalanine hydroxylase deficiency). The test is done to identify frank deficiencies of the enzyme, not optimal function. Thus there may be infants who have an impaired enzyme function, but who are not identified as having an issue [6]. These enzymes may become impaired later in life. Let’s use the example of a patient with an impairment of the phenylalanine hydroxylase (PAH) enzyme which can result in an elevated concentration of L-phenylalanine in serum, but not an official diagnosis of PKU [7]. Such a person would not experience the frank clinical symptoms of PKU, although they may experience symptoms due to the impairment of the pathway, especially as a result of physiologic stress or environmental exposures. Research has found co-factor responsiveness forms of this condition which are more prevalent than previously thought, particularly in patients with mild hyperphenlyalanimemia [8- 10]. It would be rare for conventional medicine to relate specific symptoms back to an impaired enzyme. Functional laboratory assessment generally 39 throws a wide net and may include the serum amino acid precursors phenylalanine and tyrosine, nutrient cofactors iron, vitamin B6 and copper, and precursor end-products, such as vanilmandelate (the product of epinephrine and norepinephrine catabolism) and homovanillate (the product of dopamine catabolism). Targeted supplementation of co-factors has been shown to increase the function of the enzyme and enable it to complete its hydroxylation reaction. Thus assessing all markers of a metabolic pathway can help to identify possible enzyme impairments. Functional laboratories have taken the lead in offering tests to clinicians practicing integrative medicine. This includes offering many noninvasive tests, such as finger sticks, urine, saliva and stool tests. Finger stick capillary whole blood or blood spot testing on dried filter paper is a well-established technique that has been used for more than 40 years. The filter paper is manufactured to give accurate and reproducible absorptions and consistent chromatographic effects. The most common blood spot test of course is glucose, but there are also tests for HIV, amino acids, celiac, vitamin D, and immune reactions to foods. A specific example of a blood spot tests and its use is the blood spot fatty acid test which helps give clinicians a summary of their patient’s predominant fatty acids. Research has found a correlation (r=0.82) of fatty acid levels of eicosapentanoic acid (EPA) and docosahexaenoic acid (DHA) in cardiac cells to those in red blood cells (RBC) from a finger stick. The sum of the EPA+DHA in a blood spot finger stick has been termed the Omega-3 index and serves as a surrogate marker for cardiac omega-3 fatty acid levels and aids the clinician in regulating EPH/DHA supplementation or diet changes [11, 12]. Fatty acid assessments and supplementation has also been used in monitoring maternal and infant DHA levels, and in patients with ADHD, depression, learning disabilities, irritable bowel syndrome and fibrocystic disease. 2012
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