Precision Medicine: advances in defining, diagnosing and treating chronic Lyme disease – part 1

By Jacqui van Teulingen

In a series of posts, I’ve been writing about the exciting new research emerging in the USA. I heard a lot about the progress being made in all areas of Lyme disease research when I attended the LivLyme Summit in Colorado.

I’m pleased to now report on the research Dr Richard Horowitz, the LDAA Patron and author of Why can’t I get better? and How can I get better?, has just released. Dr Horowitz has treated 13,000 patients over 3 decades, including Australian patients and has a wealth of knowledge about every aspect of Lyme disease especially focusing on those with chronic and debilitating symptoms. Dr Horowitz is one who listens hard to his patients, in fact when you meet him, he is so intense in his interest, has a laser like focus and incredible capacity for understanding; it sets him apart.

As part of his indefatigable curiosity and increasing numbers of debilitated patients walking through his doors, he established that the sickest of patients had multiple systemic infectious disease syndromes (MSIDS). None of them fit Pasteur’s ‘one germ, one disease’ postulate. So, he developed a new model – a precision medicine perspective – to diagnose and treat chronically ill people.

The MSIDS model is described in Why can’t I get better? It’s considered a multifactorial model, in that it is a 16-point diagnostic map that helps both physicians and patients understand the multiple overlapping factors that contribute to their chronic illness. Understanding this landscape is critical to developing a precision medicine approach to treatment. Each patient is an individual with a unique set of genetics, infection exposures, environmental history, risk factors and consequential responses to them.

Using the MSIDS model, Dr Horowitz has systematically documented his case cohort. Over the past year he has performed a retrospective review of 200 patient medical charts including the vast array of diagnostic tests performed, and patient symptom surveys (based upon the MSIDS model and symptom checklist). Dr Horowitz presented his findings at the Summit and has now published them in the paper: Precision Medicine: The Role of the MSIDS Model in Defining, Diagnosing, and Treating Chronic Lyme Disease/Post Treatment Lyme Disease Syndrome and Other Chronic Illness: Part 2.

The findings prove without doubt that chronically ill people have much more than Lyme disease. Figure 1, a direct extract from the paper, presents the vast array of systems impacted; three quarters of patients have immune dysfunction (72.5%), more show heavy metal toxicity (85%) and allergy, with 45% food allergy and 56% allergy to drugs. Three quarters of patients have nutritional and enzyme deficiencies (76%) with more than half the patients showing MTHFR mutation (52.5%). Importantly, nearly all patients had an endocrine abnormality (98%), neurological dysfunction (95%), pain syndromes (92.5%) and psychological issues (88.5%). There are also nearly three quarters of patients with some form of gastrointestinal (79.5%) and liver dysfunction (74%).

Dr Horowitz’s research also showed and incredibly high number of patients with multiple overlapping factors. Each of the patients studied in this research all had persistent and ongoing symptomology and remained chronically ill due to the numerous other health issues that compound their recovery.

The retrospective chart review, using the 16-point MSIDS model, highlights the most important medical problems that need to be addressed for patient recovery. These include addressing opportunistic infections like babesiosis and bartonella (100% of the cohort were positive to other infections), “decreasing inflammation (avoiding allergic/sensitive foods, getting adequate sleep), assisting detoxification pathways for severe Herxheimer reactions, addressing immune dysfunction and/or immune deficiency, treating POTS/dysautonomia, as well as addressing any associated hormonal and psychological dysfunction.”

This research shows that a quantitative analysis of patient charts, retrospectively, has considerable utility in cases where medically unexplained symptoms persist; the usefulness of this kind of approach in Australia has been recommended many times. However, the approach used in this study relies heavily on standardised and accepted diagnostic tests some of which are not routinely available in Australia or have been hindered by controversy. I’ll cover the diagnostic issues and methods of evaluation in a Part 2 blog post next week.

Central outcome of this research is that Lyme disease, or Lyme like illness or DSCATT as it’s called in Australia, is never just Borrelia. As such, a complete paradigm shift and interdisciplinary systems-biology approach is required to better understand the complexity.