Today in 5-minute refresher lectures I will be discussing coeliac diseases. Always follow your local guidelines and seek specialist advice. This lecture is only intended as a brief overview.

 

VIDEO WILL BE ADDED SHORTLY

Coeliac disease is a systemic autoimmune disease primarily affecting the small intestine that occurs in people who are genetically predisposed.

Upon exposure to gluten, an abnormal immune response may lead to the production of several different autoantibodies that can affect a number of different organs.

Coeliac Path

Coeliac HistoCoeliac Histo

The genetics of coeliac disease is very complicated. The two main genes are HLA class II, HLA-DQA1 and HLA-DQB1. Different combinations alter the risk for developing CD. However, genome wide association studies has identified 39 non HLA loci that are associated with CD. The heritability of CD (proportion of the risk of CD attributed to genetic factors) is only 87%, Indicating there are environmental factors at play.

HLA DQ2/DQ8 Genotype
Risk
DQ2+DQ8
1:7 (14.3%)
DQ2+DQ2
1:10 (10%)
DQ8+DQ8 
1:12 (8.4%) 
DQ8+DQB1*02
1:24 (4.2%)
Homozygous DQB1*02
1:26 (3.8%)
DQ2 alone
1:35 (2.9%)
DQ8 alone
1:89 (1.1%)
Population risk
1:100 (1%)
½ DQ2: DQB1*02
1:210 (0.5%)
½ DQ2: DQA1*05
1:1842 (0.05%)
No HLA-DQA/DQB celiac susceptibility alleles
1:2518 (<0.04%)

Megiorni F et al HLA-DQ and risk gradient for celiac disease. Hum Immunol. 2009;70:55–9

 

 The prevalence of DQ2/DQ8 genes in the population is 1:3 and the likelihood of an effected person to develop CD 1:30. Since the DQ2 loci can be divided on two chromosomes or combined on a single chromosome, the inheritance pattern of CD can be both autosomal dominant or autosomal recessive.

Let’s say you have a patient in your practise with a family history of CD, what would be the likelihood the patient has CD themselves. (their HLA is not known yet). Their risk is 5-20%  (Fasano et al 2003, Treem 2004).

Genetic testing is useful for excluding CD, but with only a 1:30 penetrance does not prove CD. Most people with CD have positive coeliac serology with detectable auto-antibodies. Gastroscopy with duodenal biopsies is the “gold-standard” for diagnosis but is not always needed. For instance, if your patient has coeliac positive coeliac serology and symptoms resolve with excluding gluten. Often people with coeliac disease are unable to tolerate the daily gluten for 2 weeks and without gluten exposure the endoscopy will be normal.

Symptoms can include fatigue, depression, diarrhoea and abdominal pains. However almost all systems can be affected skin, cardiovascular, endocrine, neurological, metabolic, renal and rheumatological.

There is an increased cancer risk with coeliac disease. Therefore, it is important for patients to go on a strict gluten free diet even if the patient asymptomatic. A dietician review is very helpful. Compliance can be monitored with repeat coeliac serology after 6-12 months.

5 out of 5 stars
posted 3 weeks ago

Dr. Van Rijnsoever is an excellent Gastroenterologist and Highly recommended. He was very helpful and provided me all with all the information I needed as well referrals, the procedure and reports for immigration. I would definitely refer anyone to him. 5 STARS!

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posted 11 months ago

Dr Marius. I am writing to express my appreciation for all that Dr Marius has been able to do so i have been able to avoid major surgery. I have adenocarcinoma,(cancer in the duodenum). I was offered an extremely invasive operation called Whipple. This involves extensive cutting and rejoining of the liver pancreas and gall bladder with all its aftermath and infection risks. I chose not to have this as i preferred to have quality of life rather than longevity. Sadly i have been up close to...

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posted 3 months ago

Dr Marius was very attentive and responded fully to my description of my state of health (physically and psychologically/emotionally). He was able to provide me with relevant information to assist me in moving forward, and made referrals to ensure that anything needing to be checked could be checked. Matthew Connolly

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posted a month ago

I suffer from Eosinophilic esophagitis, & Marius has been the most qualified surgeon that I have ever had doing the procedure of GI endoscopy. He is very informative. About the only person I would trust to do a Endoscopy procedure correctly & safely. I very much recommend, hence 5 stars.

5 out of 5 stars
posted 10 months ago

Marius was the first person to take my condition seriously, and do everything in his power to help me. Even when my issues went outside of his scope of work. He is empathetic and diligent, and has been an heavy weight in my corner and my ace up my sleeve. I’m so grateful for him, and would highly recommend.