Diagnosis Descriptions, Part 3
Cataloging Organized Autoimmunity
Before I became a nurse, I wrote consumer catalogs. I still think in terms of how different items can be organized in different categories to emphasize different features. Autoimmune disease is vastly more important than consumer products, but organizing it is no different. I have been writing about the fundamental problem for autoimmune disease sufferers: autoimmune disease diagnoses are ill-defined and disorganized, handicapping effective research, effective diagnosis and effective treatment. There’s got to be a better way.
I started this substack seven months ago with the goal to review the available scientific research on autoimmune disease, write about what I find using plain language, and experiment with re-categorizing and re-classifying autoimmune disease. You can see the evolution of my Diagnosis Descriptions in Diagnosis Descriptions, Part 1 and Diagnosis Descriptions, Part 2.
I had some vague ideas and a basic outline to start. I wanted to learn as much as I could about Multiple autoimmune syndrome for personal reasons, not because I thought it would help me to reimagine autoimmune disease classification. Then I read the foundational work on Multiple autoimmune syndrome by Dr. Juan-Manuel Anaya. Through his research, I came to understand that Polyautoimmunity and Multiple autoimmune syndrome are the embodiment of the fundamental problems with the current “system” of autoimmune disease classification. I started to see a different way of classifying autoimmune disease. Because I’m a nurse, not a scientist, I have the freedom to play around with these ideas without consequences to study participants, pressure to publish rigorous scientific work, or funding and staffing concerns. It’s an easy privilege to get to play around with a theory, untethered to ethical, practical or scientific constraints. I recognize that, and still hope autoimmune symptom sufferers, their support persons, clinicians and researchers find something useful in Organized Autoimmunity.
My plan is to complete each named autoimmune disease diagnosis description within the Organized Autoimmunity framework (more on that below). As I’m completing each diagnosis description, I will write and send regular posts on what I find. Once I’ve finished every named autoimmune disease on my List of Autoimmune Disorders, I’ll evaluate how useful and flexible Organized Autoimmunity is to cross-categorize autoimmune diagnoses by their various components, and discover whether patterns emerge. I have the audacity to think that a reorganized catalog of autoimmune disease has the potential to be flexible enough to work with current named autoimmune diseases, provide a naming convention for unnamed autoimmune disease, outline a different paradigm for researchers, and provide autoimmune disease sufferers with more agency in identifying what’s happening to them. Ego much? Yes. Hubris much? For sure. Charlatanism much? I sincerely hope not.
Four readers have reached out to me to let me know that they would like more information about particular diagnoses, so I will be organizing Juvenile idiopathic arthritis/Adult-onset Still’s disease first, Post orgasmic illness syndrome second, Palindromic rheumatism third, and Polymyalgia rheumatica fourth. If there’s a diagnosis you would like me to focus on next, please let me know by posting a comment. If you’re not comfortable commenting publicly, please send me an email at autoimmunedx@gmail.com.
Next up in this post are the specific explanations for each category in each Diagnosis Description. It’s long, but it explains it all.
Back to Basics
AutoimmuneDx has a sub-newsletter: List of Autoimmune Disorders. You can find it at the top of the home page. The first, and most important, post of the sub-newsletter is the comprehensive list of autoimmune disorders. The rest of the posts are diagnosis descriptions for each autoimmune disorder on the comprehensive list. The diagnosis descriptions appear in alphabetical order as much as possible within the constraints of the time-marked order of post publication. Each diagnosis description is either an empty, or partially completed, template post, like this one for Systemic Lupus Erythematosus.
The List of Autoimmune Disorders sub-newsletter is intended to serve as a reference, and a parallel organization and classification repository for information gathered from regular Autoimmunedx posts (this was true, and will be true again, but for the foreseeable future the process will be reversed: populating diagnosis descriptions, and using that process to inform regular posts). Currently, many of the diagnosis description posts contain only a basic template. The best way to know whether a post has more information than a basic template is to check the comprehensive list for a link to the diagnosis description post. Those entries that are not linked are templates only. As I dig deeper into the available scientific research, I will populate the basic template fields of each diagnosis description post in the process. These posts will evolve, expand and change over time as more research is completed. They have not been, and will not be, sent to you as part of the regular newsletter because they need to function as working reference documents that necessarily change.
Each diagnosis description includes:
Summary
A description of the autoimmune disorder sourced from the Autoimmune Association, the Global Autoimmune Institute, the Genetic and Rare Diseases Information Center or the next best available source. All sources will be cited in the reference section, so that information is transparent and can be evaluated independently for source quality.
Symptoms
A list of symptoms that, ideally, includes how common or rare each symptom is suspected to be. Classification of autoimmune disorders by symptoms and consequently by body system (eyes (Ophthalmologist) or ears (Ear, Nose and Throat MD) or kidneys (Nephrologist), etc) is currently common—and fractures diagnosis and medical care for autoimmune patients. For this reason, I don’t intend to focus a great deal of investigation on this area of inquiry and classification, but I recognize how important this section is to empowering the patient. You may not be able to get the tests you need, you may not be able to get the diagnosis you need, but symptoms are what you can know and search for in your effort to understand what’s going on with your body.
Diagnostic Criteria
This section will include the point-by-point standardized criteria for each diagnosis, if such criteria exists. Rheumatological disorders will not include Diagnostic Criteria because The American College of Rheumatology and the European League Against Rheumatism abandoned the development of diagnostic criteria for rheumatological disorders in 2015. This section is intended to inform and empower you with the criteria providers use to determine a formal diagnosis. Absence in this section also illustrates how many process gaps there are in the ability to formally diagnose autoimmune disorders.
Study Classification Criteria
Classification criteria is not synonymous with diagnostic criteria. This is the criteria that researchers use to include study participants in their studies. If this section is blank or contains conflicting criteria, it indicates a fundamental difficulty in gaining knowledge about a specific autoimmune disease.
Diagnostic Tests
This section will list diagnostic tests, and ideally include how diagnostic, or specific, each test is.
Organized Autoimmunity
This is my alternative classification system for autoimmune disease. It’s a working theory that may change or be refined over time. Considering my antipathy for acronyms, I am sorry that I rely so heavily on them for Organized Autoimmunity. If I can think of how to jettison acronyms or come up with better sounding ones, I will. If you’re wondering how the autoimmune disease sufferer would name the disease they have using Organized Autoimmunity, it would simply be, “I have…” ….“FIEM”…“MIEM”…or “BIEM”…or “FEM”…“MEM” or “BEM.” For people who need more specificity, or for clinicians and researchers, they would make use of “mediated by…” fill-in-the-blank statements. This allows autoimmune diseases to be cross-categorized, down to the molecular level, by sex, genetic variation, environmental exposure and immune system pathology.
(Alternative Autoimmune Disease Classification: FIEM, MIEM or BIEM or FEM, MEM or BEM)
sex predominance
Is an autoimmune disease primarily found in genetic Females (FIEM), Males (MIEM), or equally in Both (BIEM)? For known autoimmune diseases, prevalence data would determine whether the disease is classified as a FIEM, MIEM or BIEM. For novel autoimmune disease presentations, the patient’s sex determines whether the disease is classified as a FIEM, MIEM or BIEM. This allows sex prevalence to scale from the level of individual clinicians (4 out of 6 of my patients with this novel autoimmune disease are female) to large research studies. Classifying autoimmune disease by sex prevalence allows researchers and clinicians the ability to quickly identify aberrations or changes in sex prevalence. For example, a known autoimmune disease with a well-researched female prevalence shifts to a sudden male prevalence. New disease? New environmental trigger? Inadequate prior sex prevalence research? When autoimmune disease is classified by sex prevalence, and something changes, the question, “what’s changed?” is baked into the autoimmune disease’s name.
Inherited gene variations that cause increased susceptibility
This is clunky, so bear with me. If disease-causing genetic variations are known for a given patient, this would be delineated by a “mediated by” statement. For example, Systemic lupus erythematosus would be organized as “Female prevalence, mediated by variations in genes CTLA4, PTPN22 and STAT6”, if those variations are present in the patient. This classification could allow researchers to identify and study different named autoimmune diseases that share disease-causing variants at the individual gene level all the way down to the specific amino acid segment, if such information is known.
The absence of known gene variations could be expressed as FEM. The absence of the letter “I” becomes a glaring demand for more research.
Gene Triggering Environmental Exposures
I believe the default assumption for people with autoimmune disease symptoms should be that there have been gene triggering environmental exposures at some point in their life. These include infections, toxins and stress. For this reason, in my FIEM, MIEM and BIEM classification system, “E” will always exist. It just may not be known. A combination of testing, if current symptoms are present, and assessment questionnaires would be a way to provide comprehensive evaluation of environmental factors. These would also make use of the “mediated by…” statement or “unknown,” if no environmental exposures can be identified.
a. Infections
In an ideal world there would be a test for every viral, bacterial, and fungal infection (protozoal infections tend to be fairly well recognized, but are also less common in the U.S. than viral or bacterial infections). Unfortunately, testing for active infection-type is limited, and if an active infection is no longer present, that limits assessment even further. In this model, infection assessment requires a two-pronged approach, testing for infections if applicable and available, and also using a questionnaire to assess for past infections. This area is ripe for distortion, but important nonetheless. For example, patients may be more likely to seek medical care for bacterial infections, and testing for bacterial infections is more straightforward than testing for viral infections. Because of these considerations, autoimmune disease mediated by bacterial infections may be overrepresented in the data. If this is accounted for in physician and research assessments, I don’t see that this is a problem.
b. Toxins
Testing for toxins is even more limited than testing for infections. Past exposure to toxins is even more challenging to assess. The focus is likely to be on possible exposure assessment rather than testing, but both are still critical. I think this is an important contributing factor to autoimmune disease and needs to be part of an autoimmune disease’s naming process.
c. Stress
Stress levels can be assessed using a standardized stress and trauma questionnaire (I still need to research what well-validated assessments exist). It’s critical to look at this piece of the puzzle and determine severity because there are numerous interventions that can improve this contributing factor to autoimmune disease.
Multiple interactive and destructive immune system pathologies
This is the final area that is a given. There will always be an “M” in this classification system, otherwise autoimmune disease doesn’t exist. The use of “mediated by…” or “unknown” is again a clunky, but critical piece, to this classification system. This is where the patient’s known destructive antibodies would be listed, along with any other testing that indicates immune dysfunction.
Here’s an example of Organized Autoimmunity using a current named autoimmune disease. Systemic Lupus Erythematosus is a FIEM, Female prevalence, mediated by CTLA4, PTPN22 and STAT6 gene variations (if these are present in the patient), mediated by x list of patient-specific environmental exposures, mediated by antinuclear antibodies and anti-dsDNA antibodies (if this is what the patient’s test results show). Classifying a person’s autoimmune disease in this way gives the individual more information about their diagnosis, points out gaps in knowledge or testing to clinicians, and allows researchers to study shared antibody profiles across varied body system disease presentations, for example. Or it allows researchers to study therapeutics that target shared gene variations across varied body system disease presentations. And that’s just scratching the surface of how Organized Autoimmunity could be used for research purposes.
Tissue-Type or Cell-Type Attacked
This section focuses on the tissue or cell type that is damaged or dies as a result of attacks on it by the immune system.
Treatment(s)
This section will list medications, procedures, lifestyle changes—any research-based treatments that improve or eliminate symptoms of the disorder. This section has the potential to provide an alternative classification system for autoimmune disorders.
Managing Specialist(s)
This section will include the name of the specialist(s) that has expertise in treating each autoimmune disorder. This section is for reference only, since for some autoimmune disorders, it can be difficult to know what specialist to see. Given the difficulty, in many cases, of getting a referral, this area is a resource for patients and their support persons. This section represents the body system classification that defines the medical system, and which does not serve patients with autoimmune symptoms well, so it is not a useful alternative classification. I include it because the rules of diagnostic power require that patients navigate within the existing medical system to get the care they need.
Research Authors
This section is an effort to create a resource that may be useful to patients and their support persons when searching for a specialist to see who is an expert in a particular autoimmune diagnosis. When possible, I will try to list a country association for reference.
Research Institutions
This section is intended to serve as a resource for patients and their support persons when searching for a medical center, to receive medical care and/or an accurate diagnosis, that devotes its resources to researching a particular autoimmune diagnosis. Research authors often change where they’re working due to graduation or a job switch, so it may be helpful to know which institutions are supporting particular research.
Average Time from Symptom Onset to Diagnosis
This section is intended to provide a reference for how long the diagnostic process may take. It may also serve as a useful alternative classification system for autoimmune disorders.
Last Updated
This section informs readers about how up-to-date a given diagnosis description is. The more up-to-date, the more trustworthy the description.
References
A list of all references used to inform the categories included in the diagnosis description. This section is intended to provide transparency and ensure the reader’s access to the original source material.