Comorbidities

As I’ve mentiond numerous times throughout this blog, people with a form of Ehlers-Danlos Syndrome or Hypermobility Spectrum Disorders seriously win the bad health lottery when it comes to comorbidities, or conditions you have along with a primary condition. In fact, the list sometimes seems a little unreal, as it hardly seems possible a body could experience so much trouble.

But again, if I didn’t have the pleasure of experiencing several of them myself, and observe over 6000 fellow patients daily in various online support groups with every variation on the theme, I would have trouble believing it too. But it’s true. And the sooner the medical system wraps their collective brain around this painful fact, the quicker we’ll save time, money, energy and suffering for all involved. (One group now has over 20,000 in it.)

I think it helps when you remember that collagen runs through 80% of the body, so affects virtually every system. To borrow a phrase from MCAD savvy Dr. Afrin, a la Occam’s Razor, do you really think there are 57 different things wrong with your patient, or maybe just a couple underlying systemic conditions?

That said, one of the most common, with some of the most disabling effects yet least often diagnosed is any form of MCAD, or  Mast Cell Activation Disorders , which includes the more rare Mastocytosis and the newly recognized much more common, but rarely diagnosed MCAS: Mast Cell Activation Syndrome. (The Mastocytosis Society is trying to establish an ICD-10 code for this as I type in spring 2014). Think of MCAD as being like “extra” or “hidden” food and chemical “allergies” that traditional allergy testing cannot find. (The mast cells are not being activated via the traditional IgE mediated pathway.)

Dr. Josh Milner at the NIH is actually studied this comorbidity of atopy (allergic diseases including MCAD) and connective tissue disorders (most commonly forms of Ehlers-Danlos) as he shared here in the summer of 2015 at the 3rd Annual Dysautonomia International Conference. The study ultimately found a subset of patients who have a form of “familial tryptasemia”, that is, a baseline elevated tryptase exhibiting a familial (genetic) inheritance pattern. (Described here and here in autumn, 2016.)

No one with this condition was not hypermobile, leading them to suspect it may play a role in HEDS. That said, this only explains a very small subset of the Hypermobile EDS patient population still. Many more like myself are still very hypermobile in the absence of elevated tryptase, begging the question: what else is causing our hypermobility? And others suffer oodles of soft tissue troubles and tears, and all of the pain and comorbidities of HEDS, but are not flexible at all, and never have been. And it is unclear if all have elevated tryptase or not. (I doubt it.)

MCAD manifests in lots of GI trouble (nausea, vomiting, constipation and sudden diarrhea), frequent urination, skins signs including flushing and various rashes including hives and urticaria pigmentosa (persistant hive-like patches that wax and wane), and all signs of the various levels of anaphylaxis, which most don’t realize comes in grades according to the number of body systems involved. (Not all is throat closing!) I’ll share more on this elsewhere, but just wanted to be sure people were aware how common we are finding it in the EDS /HMS /Fibromyalgia community. It is often mis-diagnosed as Multiple Chemical Sensitivity or porphyria.

Lastly, I’ll note that there are often BOTH bio-mechanical (physical, e.g. impinged nerves, muscle tension, herniations, loose ligaments), and bio-chemical (e.g. allergy, MCAD) causes to many of our issues (e.g. headaches, frequent urination) lending to the diagnostic and treatment challenge! Don’t forget to consider both when trying to diagnose and treat. Yes, tricky!

With that, here is an unofficial list of common and semi-common comorbidities (besides hypermobility)  I’ve observed in the EDS community online:

  • Fibromyalgia
  • Chronic fatigue, often diagnosed as CFS/ME
  • Chronic Pain of ALL kinds, including RSD/CRPS, arachnoiditis, neuropathies, radiculopathy, neuralgia, fibromyalgia, etc. often invisible on scans
  • MCAD (Mastocytosis or the newly recognized Mast Cell Activation Syndrome aka MCAS – ICD-10 code to come soon hopefully in 2014)
  • Fibromyscular dysplasia (deformity of the arteries, especially leading to the kidneys)
  • Autism Spectrum  (all levels) and related conditions (OCD, ADHD, SPD)
  • Mood disorders, especially anxiety and depression (likely organic in origin and/or secondary with ASD)
  • Thyroid issues (high and low, often auto-immune despite normal TSH “levels”)
  • MS and other auto-immune disorders (RA, Sjogren’s, Lupus, Ankylosing Spondylitis, OA, more)
  • Arthritis of all kinds, especially early onset Oestoarthritis in the spine, neck and hands, but RA common also (really AI also)
  • Irritable Bowel Syndrome (IBS) & proclivity toward constipation, but with quick flips to diarrhea (likely food allergies/MCAD)
  • Incontinence at any age (often from occult tethered cord and/or MCAD or allergy induced)
  • Uterine or rectal prolapse, pelvic floor dysfunction
  • Frequent (seemingly idiopathic) nausea and vomiting (may be from impinged vagus nerve/MCAD/hiatal hernia/gastroparesis/Chiari)
  • Dysautonomia of all kinds, most notably poor temperature and BP regulation (high or low, see POTS below)
  • Raynaud’s phenomon (blood vessel constriction from cold, stress) pronounced “ray-noe’s”) – a form of dysautonomia
  • POTS (Postural Orthostatic Tachycardia Syndrome) – a subset of dysautonomia involving BP drops and syncope (fainting)
  • Hyperadrenergic POTS (aka HyperPOTS) – a subtype of POTS involving more variable BP and adrenaline responses
  • NMH (Neurally Mediated Hypotension) – another form of dysautonomia affecting BP
  • Livedo Reticularis (purplish/white “mottling” on skin surface from likely small capillary spasming)
  • Frequent joint dislocations and subluxations (partial dislocations) or being so-called “double-jointed
  • Club foot at birth
  • Mitochondrial disorders and deficiencies
  • Kidney trouble including diabetes insipidus
  • Diabetes miellitus and Metabolic X syndrome
  • Sensory Processing Disorders
  • Tinnitus (ringing in the ears)
  • Empty Sella Syndrome (common wtih Chiari Malformation apparently too fwiw)
  • Insomnia (trouble falling and staying asleep, multiple causes in the EDS patient including pain and hyperadrenergia)
  • Sleep apnea, both obstructive airway issues and Central Nervous System (CNS) Apnea (neurologic in origin requiring a sort of breathing “pace maker”)
  • Cranio-cervical settling (which may cause the CNS Apnea) and attendant neuropathic issues and glaucoma
  • Hypotonia (unusually weak muscles despite “training”) sometimes presenting as “floppy babies”
  • Syncope and pre-syncope (fainting and near fainting) and unusually low BP
  • Dizzyness (with or without syncope)
  • Common Variable Immune Deficiency (CVID) of all kinds leaving us prone to frequent & worsening recurrent infections of all kinds, especially respiratory & UTI’s
  • Interstitial cystitis
  • Lymphedema and angioedema (the latter comes with MCAD triggering usually)
  • Lipoedema (not the same as lymphedema, also spelled “lipedema” in US) an adipose (fat) tissue disorder causing unavoidable weight gain and lipomas
  • Dercum’s disease (see Lipedmea above, looks a lot like that plus MCAD)
  • Endometriosis
  • PCOS and menorraghea (very heavy periods)
  • Tendonitis and bursitis of all kinds (aka “soft tissue rheumatism”, alt. tendinitis)
  • Keratoconus or thinning /”pointy” corneas that lend to astigmatism
  • Uveitis (inflammation of hte uvea of the eye, common with ankylosing spondylitis)
  • Varicose and spider veins, often early onset, easy bruising and bleeding from same
  • Phlebitis
  • Migraines and headaches of ALL kinds and durations, (often driven by hydrocephalus from MCAD)
  • Food and drug allergies and sensitivities with a lot of paradoxic and unexpected super sensitive reactions
  • Bleeding disorders including Von Willebrand’s
  • Strokes
  • Mitral valve prolapse
  • Aneurysms of all kinds, anywhere
  • Easy bruising often from no apparent cause or injury
  • GERD (weak hiatal sphincters and MCAD can contribute here – the stomach produces acid in resopnse to histamine from food reactions)
  • Gastroparesis (slow or no stomach emptying) and dysmotility (poor digestive movement) beyond just constipation and IBS, possibly from impinged nerves & vessels
  • Idiopathic postprandial syndrome and/ or “Adrenergic hormonal postprandial Syndrome” (sort of “pseudo-hypglycemia” in absence of low blood sugar measures)
  • Chiari malformation, including occult (hidden) Chiari aka “Chiari Zero” formation (“saggy” hind brain, often protruding through the back skull, but not always)
  • Tethered cord
  • Syringomyelia or “syrinx formation” in the spinal cord (may be caused by long term hydrocephalus)
  • Spondylolysthesis, spondylolisis (misalignment of the spinal vertebrae in various directions – front -to-back, side-to-side)
  • Cranial cervical instability, esp C1-C2 “owl turns” and “bobble-head” issues (trouble keeping head on neck, literally, with resulting neurologic issues)
  • Thoracic outlet syndrome, brachial outlet syndrome
  • Seizure disorders and epilepsy
  • Fallen arches (pes planus)
  • Sciatica
  • Bilateral hip dysplasia (ability to “pop” – aka sublux – hips out and back in easily, which should be avoided!)
  • Cerebral Spinal Fluid (CSF) leaks including CSF rhinorrhea, CSF otorrhea (CSF leaks out nose and ears) or anywhere along the dura (lining of spinal column & brain)
  • Celiac disease and all forms of gluten sensitivity
  • Malabsorption and malnutrition and nutritional deficiencies despite diet and even supplementation sometimes. (Poor absorbption).
  • Electrolyte imbalances (often low potassium)
  • Osteopoenia (low bone density) and osteoporosis (brittle bones), often early onset
  • Scoliosis (deformity of spinal curve) of all kinds including kyphosis (aka “roundback”, forward bent spine)
  • Hiatal hernia (stomach to esophagus sphincter) and all other forms of hernias just about anywhere (inguinal, duodenal, abdominal, etc.)
  • Costochondritis (pain at front rib attachment point to sternum)
  • Chondromalacia (cartilage loss) of all kinds, especially patellae (loss of cartilage in the knees, but can occur elsewhere, e.g. hips)
  • Frozen shoulder
  • Petechiae (dark purplish spots, essentially flat blood blisters under the skin, common in those with MCAD with high heparin levels)
  • Metal and other environmental allergies, especially nickel sensitivity (ELISA testing often helpful, pre-test all implant materials)
  • Diastasis recti, (splitting of abdominal wall along the midline) even in males and unpregnant females
  • Striae aka “stretch marks” even in males and young (prepubescent) females (i.e. not always associated with pregnancy!)
  • Myopia (often severe), macular degeneration, astigmatism, keratoconus
  • Strabismus (crossed eyes) or wandering eyes from likely weak eye ligaments
  • Bruxism (jaw clenching, tooth grinding)
  • TMJ pain and issues, subluxations and dislocations (Temporo-mandibular joint syndrome, jaw alignment trouble)
  • Restless Leg Syndrome (RLS) and leg cramps (often eased by increased magnesium)
  • Neuromas in the feet
  • Plantar Fasciitis
  • Chronically low Vitamin D and B12 levels (caution urged for those with MTHFR mutations with the latter, may need a different form of Vit B)
  • Weak or crowded teeth, many need early or partial dentures
  • Receding gums
  • Urticaria (hives) and Urticaria Pigmentosa (persistant hive-like patches, part of MCAD above)
  • Hair loss early, and even in women, especially those with signs of MCAD or iron imbalances
  • Deviated septum (misaligned nasal cartilage)
  • Trouble swallowing & choking issues, often neuropathic in origin from CCI, sometimes due to floppy laryngial tissues
  • Esophageal spasms (can extend to anywhere along GI tract also)
  • Skin tears or rips, trouble suturing, would dehiscence (trouble healing post surgery, especially soft inner tissues)
  • Liver problems, including fatty liver and lesions, enlarged liver
  • Enlarged gallbladder & spleen, appendicitis (may be MCAD driven)
  • Vocal cord dysfunction
  • Hearing loss from a variety of causes, some bio-mechanical, others neurologic
  • Diverticulitis and diverticulosis
  • Breast Ptosis (sagging, droopy breasts)
  • Crohn’s and colitis
  • Leaky gut syndrome
  • Retinal detachment and tears (rips)
  • Keratoconus (“pointy”, droopy corneas)
  •  Dry eyes and blepharitis (bacterial eyelid infections), as well as retinal tears and more
  • A perpetual case of dishes – seriously. From having to cook only whole, unprocessed organic foods you tolerate right? (Mine are all consuming anyway…)
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Oh TWIST!

I could actually go on, but I think that’s plenty! Hopefully this is helping to broaden people’s perspective on just how incredibly wide-ranging the effects of faulty and insufficient collagen can be. Other things that are “signs” are not listed, as they are not technically comorbidities. (E.g. stretchy skin is a sign, not a complaint, usually, as is also blue sclerae). And, I don’t want to overwhelm anyone!

I will also add that many of the above “comorbidities” are syndromes in and of themselves, and can often explain some of the other listed comorbdities. MCAD alone can lead to many of the issues shown, as can thyroid imbalance. Given a choice, outside of one of the very few well-trained geneticists and specialists in the world currently I’d try to work with a functional medicine doctor and/or a naturopath (functional or not) or DO (Doctor of Osteopathy) who might be willing to drill down with you to help address some of the more underlying causes of so many disorders wholistically rather than trying to solve each individual issue (unless they’re show stopping or critical of course).

And, as overhwelming as this can all be, realize several things: a) unless you’re one of the rare few with Vascular EDS, you probably aren’t going to die any quicker than you were before you read this list (even if it feels like it, and it can feel like it sometimes alright), and b) you need to triage and pick your battles, and address the most disabling and life-altering with your doctor first. (I would pick the top 3 issues for any given visit, they won’t have time for more). And lastly c) be patient with your doctor – they can be just as overwhelmed as you are with so many issues to treat. I haven’t even treated half of mine – it’s not worth it. I’m focusing on my nutritional health and sleep, both of which have reduced my pain levels greatly and improved several of the other issues. Work with your doctor to determine your best plan of attack, and lastly: do not worry! THAT will not help anyone. Many issues can at least be mitigated (reduced/diminished) if not outright solved with a variety of therapies I’ll be getting to elsewhere. I keep telling my friends, my life isn’t over since my onset storm of 2012, it’s just different. (Oh but how!)