Genetics: Improving our Understanding, Diagnosis and Treatment of Autoimmune Disease
It takes autoimmune patients up to 5 years and nearly 5 doctors before they receive a proper autoimmune diagnosis. Patients no longer need to accept this cumbersome process. Genetics will enable us to assess our risk of autoimmune disease, understand and mitigate our individual risk factors, and work to prevent autoimmune disease, and not wait to treat until it has developed.
Screen for Gluten Intolerance Mutations
If you have an autoimmune disease, one of the first things you should do is screen for gluten intolerance gene mutations. In my previous two posts I discussed how gluten intolerance mutations increase the risk of many autoimmune diseases, including celiac disease. What has surprised me, even though I know from the research that gluten intolerance gene mutations increase the risk of autoimmune disease, is just how many of my patients with these mutations have autoimmune disorders, and how strongly autoimmune disease appears in their family.
Preventing Autoimmune Disorders
Even though lifelong gluten avoidance is a daunting prospect, a very common sentiment expressed my patients is; they wish they had known sooner, that this information could have saved them and their families years of health problems. I have chosen two patients who have gluten intolerance mutations and listed all the family autoimmune conditions that are directly associated with gluten intolerance mutations. This proves how important it is to screen.
This patient has 5 family members that have autoimmune disorders that are all related to gluten intolerance mutations.
“My first memory of symptoms was around age 16. I was very overweight for my age, suffered from bloating, constipation and diarrhoea. Pasta and bread were a big part of our diet. Finally, at the age of 32 my genetic test has confirmed I am gluten intolerant. Genetic testing has helped me piece together the missing pieces and answer the question as to why I wouldn’t feel right after eating certain foods. It’s empowered me to make better choices around my diet and will help me avoid the autoimmune diseases that are so noticeable in my family. I intend on genetically testing my baby who will be born in August, for gluten intolerance mutations, so she doesn’t need to suffer the way I have with food intolerances and take out a lifetime of guess work.” LW June 2017
Thyroid Disease (1 family member)
Gluten intolerance mutations can increase the risk of developing autoimmune thyroid antibodies by 88%. Patient’s mother has Hashimoto’s.
Type 1 Diabetes (1 family member)
Those with gluten intolerance mutations can produce numerous antibodies that can destroy the pancreas. The risk for producing certain Type 1 diabetes antibodies can be raised by as much as 460%. These antibodies have been found in children under the age of 3, years before the child was diagnosed with type 1 diabetes. Patient’s aunt developed Type 1 diabetes while pregnant.
Type 2 Diabetes (2 family members)
Those with gluten intolerance mutations have an increased risk of producing antibodies that increase the risk of Type 2 diabetes by destroying pancreatic cells and decreasing insulin production. Brother diagnosed age 35, paternal grandfather.
Lupus (1 family member).
Gluten intolerance mutations can increase risk of Lupus by 110%. Patient had a niece born with lupus. She is the daughter of the aunt who developed Type 1 diabetes while pregnant with her.
This patient’s family has 10 autoimmune disorders that are all related to gluten intolerance mutations.
“I definitely would have appreciated knowing I had gluten intolerance gene mutations prior to having children, and understanding that if I had these mutations then my children were also at risk of being gluten intolerant and at risk of celiac disease. My son was diagnosed with celiac disease at age 10. When he was born he suffered from severe reflux and a resulting ear condition meant he was on antibiotics for an extended period when he was 12-18 months old. I feel strongly that this played a large role in his eventual celiac diagnosis. If I had understood his risk, I could have easily restricted his diet and monitored him more closely, knowing what signs to look out for.” LE June 2017
Autoimmune Liver Disease (3 family members)
The body begins to destroy its own liver cells. Those with certain gluten intolerance mutations can have a 190% increased risk of this disease. These antibodies were raised in my patient (tested at age 30) and raised in her son when he was aged 10. Her father was diagnosed with this disease in his 50’s. Since my patient and her son have been gluten free these antibodies have dropped back to normal.
Celiac Disease (1 family member)
Gluten intolerance mutations can increase the risk of developing celiacs disease by up to 400%. You cannot develop celiac disease unless you have gluten intolerance mutations. Her son was diagnosed at age 10.
Type 2 Diabetes (1 family member)
Mother diagnosed in her 60’s.
Thyroid Disease (3 family members)
Patient had Hashimoto’s and sister was diagnosed with Hashimoto’s in her late 40’s. Her brother diagnosed with an overactive thyroid in his late teens.
Autoimmune Skin Disorders (2 family members)
There are a number of autoimmune skin disorders associated with gluten intolerance. Brother diagnosed at age 35 with dermatitis herpetiforms and her mother had pemphigoides.
iDNA Health recommends everyone should screen for gluten intolerance mutations, especially if you have any autoimmune disease or a family history of autoimmune diseases. Contact us today to get started on your Personalised Health Journey.