Read about the genetic defect – and treatment!
Researchers find a genetic link between EDS (Ehlers-Danlos syndrome), POTS (Postural Orthostatic Tachycardia Syndrome), and MCAS (Mast Cell Activation Syndrome)! The gene to blame? TPSAB1. Defects in this gene cause an increase in tryptase – and this defect is often seen with irritable bowel syndrome, connective tissue abnormalities, dysautonomia, and skin signs such as itching and flushing. (all references below)
This sounds like it affects most of us with idiopathic POTS, right? Certainly many of us with EDS/POTS have GI problems, flushing, and symptoms of dysautonomia, in addition to hypermobility. Before running off to celebrate, however, I would recommend that we keep our wits about us, stay with the science as always, and take a closer look.
Should you have issues with your TPSAB1 gene, you will have high tryptase. If your tryptase levels are not high, this is likely NOT your underlying problem, despite how your symptoms suggest otherwise. If you and your doctors treat you as a tryptase patient when this is not your underlying problem, you may see some improvements, but you will continue to be sick. Even worse, you and your doctors may conclude that the remainder of your illness must be due to this genetic defect, and because we can’t change our genes, continuing suffering is to be expected. This can be an easy mistake to make (see Case #9, recently seen at POTS Care).
When The Driscoll Theory was first released in June, 2011, I proposed that MCAS was the likely link between most conditions involving EDS and POTS. I pulled down this book shortly after release, however, when I saw that most everyone’s tryptase levels were normal. I felt that I had jumped the gun. My personal story highlights the point.
Approximately two years ago, my inflammation had gotten so bad after a hospital stay gone bad (video here) that I was flushing constantly, had tachycardia, hives – I was so symptomatic that one of my doctors took it upon himself to check my tryptase levels (without me even asking for it – a rarity for us invisible illness folks). My tryptase was normal, and I remember thinking, “If my tryptase was ever going to be high, now is the time! Something else is clearly contributing to these symptoms.”
The Driscoll Theory was rereleased, amended to reflect the new findings of NORMAL TRYPTASE in most EDS/POTS patients. Quoting from The Driscoll Theory,
“It has been easy for many of us (myself included) to assume that mast cells are the underlying problem in EDS/POTS because of our dramatic response to “mast cell medication” and because we know that mast cells can be found in connective tissue. It is critical to understand that neutrophils, basophils and eosinophils are also found in connective tissue, and treatment for these cells includes antihistamines and stabilizers (such as ketotifen and cromolyn sodium). Although it can be difficult for us to think beyond MCAS, research dictates that we need to keep our minds open. The (new) studies of basophils, neutrophils and eosinophils (and inflammatory cytokines and chemokines) indicates that these cells may contribute to secondary mast cell activation, and need to be evaluated when treating connective tissue disorders.”
When some folks agree with my opinions I begin to suspect I'm wrong.
Instead of assuming tryptase is the cause of illness, when levels are normal, an evaluation for hidden sources of inflammation (some of which cause secondary mast cell activation – or symptoms that mimic mast cell activation) must be performed.
What’s up with tests for MCAS – histamine, prostaglandins, leukotrienes, etc.? Read about it in my next post.
Meanwhile, if you have high tryptase, what helps? You are likely aware of the importance of trigger avoidance, stabilizers (such as Gastrocrom and Ketotifen), and antihistamines (Zantac blocks H-2 receptors, Zyrtec blocks H-1 receptors). What helps directly with high tryptase? Lactoferrin!
Eye doctors (of whom I am one) know about lactoferrin because it is also found in the tears and helps prevent eye infections.
What is lactoferrin?
Lactoferrin is a globular glycoprotein found in secretions such as milk, tears, saliva, and nasal mucous. Lactoferrin is also present in PMN’s (polymorphonuclear cells) such as neutrophils and has been found to inhibit mast cell activation, mast cell tryptase, and chymase in some cells. Lactoferrin has antibacterial and antifungal properties and is part of the immune system of the body.
One brand of lactoferrin I recommend can be found here
In the published article about the abnormal tryptase gene, a statement made in the concluding paragraph may be the most enlightening:
“How elevated basal serum tryptase levels might contribute to the associated multisystem disorder we observed remains unclear.”
Because high tryptase levels are found in 4-6% of the normal population, and these people do not generally exhibit EDS or POTS, we have not reached the answers yet. Further investigation into this condition will likely open up more opportunities for treatment – that’s the good news!
In your search for answers, my friend, please remember:
- Patients with abnormal tryptase genes linking EDS/POTS/MCAS have high tryptase.
- If you don’t have high tryptase, keep your mind open to other hidden inflammatory conditions.
- If you have high tryptase, lactoferrin may help.
- High tryptase is not the cause of symptoms in EDS/POTS/MCAS. It is a correlate, but correlation does not indicate cause. We must keep our thinking caps on!
Do you have the updated book – The Driscoll Theory – discussing this subject? Find it here
If your tryptase is normal, and you must consider other forms of inflammation, please don’t forget the role of your vagus nerve (the anti-inflammatory pathway of the body)! Recently patented Parasym Plus™ uniquely stimulates your vagus nerve. VagusNerveSupport.com
Dr. Diana Driscoll is now working full time at POTS Care. A recovered POTS/EDS patient, and mom of children who have now also recovered, she has been instrumental in finding the underlying medical conditions responsible for this potentially disabling condition.
He S, et al. The inhibition of mast cell activation by neutrophil lactoferrin: uptake by mast cells and interaction with tryptase, chymase and cathepsinG. Biochem Pharmacol. 2003 Mar 15;65(6):1007-15.