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The usefulness of testing in revealing and treating chronic diseases

The usefulness of testing in revealing and treating chronic diseases

This month we are delighted to feature a blog from Elena Panzeri at Wholegene Nutrition.

Orthodox medicine, despite the great advancements (occurred especially in the last decade thanks to the data coming from new omics techniques) is still unable to give definitive answers on the real causes of major chronic diseases. Most importantly, it cannot give precise indications to prevent these ailments! Functional Medicine (FM) is a dynamic and science-based approach aiming to prevent, assess and treat complex chronic diseases. The term “functional” in this context refers to the manifestations of physiological changes (with some specific, often unrecognized, pathological modifications) in fundamental biological processes that produce symptoms. By contrast, in orthodox medicine a functional disease is a condition that may impair quality of life but does not produce real, measurable, changes in the body (let’s think of the perception of IBS, often considered merely a “psychological” problem!). The main difference between these two approaches is that FM considers these symptoms as the first signs of an unbalanced, altered function in the body. If this loss of homeostatic balance is not promptly addressed, a pathology will appear (not necessarily in the site of current symptoms!). A FM practitioner understands that every patient is a unique and complex system where genetic components and environmental factors continually interact and produce individual responses. FM is based on these fundamental principles:

  • recognition of a “biochemical individuality”;
  • a patient-centered (instead of disease-centered) approach;
  • necessity to work on the dynamic balance between external and internal factors (at a physical, psychological and even spiritual level);
  • consideration of the network of connections among all body systems;
  • health seen as a positive manifestation of vitality and full potential and not just a temporary lack of disease;
  • promotion of organ reserve, which means enhancing and preserving physiological functions.

Nutritional Therapy (NT) is the application of nutrition and lifestyles medicine sciences to promote health and prevent diseases. It closely follows the FM principles as diet and nutrients are fundamental environmental inputs that regulate and influence all body functions. Macro and micronutrients affect all physiological processes, from metabolism to immune function, from endocrine to nervous system etc. The existence of multiple “axes”, so cross-talks between different body systems, is increasingly being recognized by orthodox medicine as well. Some of the most important ones are: the HPA axis (hypothalamus-pituitary-adrenal glands); the gut-brain axis (microbiota composition and metabolites production can alter pretty much all physiological functions); the gut-lung axis (whose importance has been highlighted during the current pandemic); the gut-liver-brain axis and so on. Nutrients directly and indirectly affect all these web-like connections and NT practitioners are able to identify imbalances occurring at any of these axes and manipulate them through dietary interventions. NT promotes individualized treatments as it recognizes that a “one-size-fits-all” approach can’t either prevent or treat chronic diseases. Therefore, NT is orientated towards personalised nutrition (PN), which takes into account both the individual’s genetic makeup and his/her specific phenotypic characteristics and needs. According to the definition proposed by the American Nutrition Association (Bush et al., 2019), PN is ‘a field that leverages human individuality to drive nutrition strategies that prevent, manage, and treat disease and optimize health’. As in FM, the PN approach also believes that an individual’s health is the result of the complex interplay between human body systems and multiple inputs that can be internal or even inherited (i.e. carrying specific genetic variants) and external, where diet and nutrition are the most fundamental ones. Therefore, a NT practitioner following both a FM and a PN approach should be able to intervene at all stages of chronic diseases development, from ‘disease prevention, subclinical symptom management, disease manifestation and progression, health optimization, and performance enhancement’ (Bush et al., 2019).

NT practitioners can greatly improve their treatment plan by using functional testing that investigate the root causes and the consequences of clinical imbalances. Laboratory evaluation can play a key part in clinical practice as it allows identification of the actual etiology of symptoms, supports the correct diagnosis, enables monitoring of treatment effectiveness and can guide future interventions. A FM/NT clinician does not simply look at pathological changes in blood, urine or other body tissues. It is very likely that the patient’s GP and several specialists have already performed these types of tests and still have not found a cause of the symptoms. Functional testing aims to assess more subtle signs of imbalances and dysfunctions by always thinking of the web-like interconnections of the human biological systems. The following are just a few examples of functional testing that may guide a NT/FM practitioner when approaching a chronic disease (both from a preventive and treating perspective):

  • Gastro-Intestinal (GI) imbalances tests: GI complaints are among the commonest symptoms reported by patients. Besides the problems strictly concerning the GI tract, dysfunction in the digestive system may cause symptoms in other areas such the nervous, endocrine, locomotor, immune and integumentary systems. Potentially, imbalances in the digestion, absorption and elimination or in the microbiota composition can have systemic effects. Comprehensive stool tests are very popular among NT/FM practitioners as they allow assessment of the digestive and excretory functions as well as microbiota abundance and diversity in one go. This type of diagnostic tool yields an extensive and actionable clinical information by evaluating: the quantity and ratio between beneficial, commensal and pathogenic bacteria; the presence of parasites and yeasts; the susceptibility of identified pathogens to both pharmaceutical and natural agents; the efficiency of digestion and absorption through the measure of fecal elastase, fats/CHO/vegetable and meat fibres: biomarkers of inflammation such as calprotectin, lactoferrin, lysozyme, WBCs (these markers might help discriminate between IBD and IBS, for instance); quantification of beneficial short chain fatty acids (SCFAs) plus the most ‘orthodox’ markers such as occult blood and pH. The information from these multiple markers can help unravel contributory factors and help the clinician address chronic and often debilitating symptoms. Moreover, an experienced NT/FM practitioner can use a comprehensive stool test to gain an insight in the primary causes (the so called ‘antecedents’) of degenerative chronic diseases such as those of the nervous and endocrine system.

  • Hormones analysis: hormonal imbalances are definitively another key area to investigate as several chronic diseases can be both be caused or associated with endocrine dysfunctions. Many endocrine axes can assessed by measuring sex hormones, DHEA, cortisol, thyroid hormones, melatonin and their intermediate and final metabolites. Additionally, the evaluation of vitamins, minerals and essential fatty acids levels can help identify specific nutrients deficiencies and/or suboptimal intake that might contribute to these dysfunctions or even be the root cause. It is worth noting that hormonal imbalances do not just explain common chronic endocrine diseases (those specifically related to hormone-producing glands such as thyroid issues, chronic fatigue and adrenal exhaustion, for example) but also symptoms and pathoetiology of far more complex disorders, such as neurodegenerative diseases (i.e. Alzheimer’s and Parkinson), neurodevelopmental disorders (autism, ADHD etc.) and even auto-immune conditions. The ability of a well-trained NT/FM practitioner consists in identifying antecedents, triggers and mediators of a specific chronic disease as it is manifesting in an individual case. For this reason, no standard test can be suggested for a given condition but the evaluation of the case history, dietary analysis and system-networking approach must guide this decision.

  • Nutrients assessment: for a NT/FM practitioner it is vital to evaluate the actual nutrients levels of a chronic disease patient, especially when both the diet analysis and the symptoms are strongly suggestive of deficiencies. Once again, it is the clinician’s responsibility to choose the right functional test and prioritize the area to investigate. Vitamins, minerals and essential fatty acids levels can easily indicate whether a nutritional deficiency is the cause or a direct consequence of a chronic condition. In some cases, a practitioner can decide to analyze the levels of toxic metals or suggest an Organic Acids Test (OAT). OAT may be extremely useful in complex chronic diseases when no obvious cause has been detected or when several systems imbalances seem to interplay in causing the condition. It evaluates bacterial and yeast overgrowth, mitochondrial and neurotransmitters metabolites, vitamins and fatty acids metabolism and detoxification and antioxidants system. OAT can be used both as an initial clinical screening tool or as an advanced test.

In conclusion, FM testing is essential for NT practitioners as they cannot simply “guess” the contributory factors to chronic diseases, which are often complex and interlinked. In some cases, even small imbalances in different body systems can accumulate and multiply their negative effects to the point of causing a major health problem. For this reason, FM testing can provide the clinician with key information relevant for that specific individual. Although these lab tests do not diagnose specific diseases, they assist the practitioners with a deep understanding of the root causes and help them choose the most suitable treatment.