2. Contents of our presentation
1. Introduction into Inflammatory Bowel Disease (IBD)
2. Epidemiology
3. The genetics and pathogenesis behind IBD
4. Signs and symptoms of IBD
5. Diagnosis
6. Treatments for the disease
7. Conclusion
3. Introduction into Inflammatory Bowel Diseases
What is it?
Inflammatory bowel diseases, shortly known as
IBDs, are chronic diseases that manifest as a
group of two important disorders, affecting the
gastrointestinal tract. These include Crohn`s
disease and ulcerative colitis:
• Share common symptoms (abdominal pain,
weight loss etc.)
• Can differ starting from the triggers that
cause them, to the specific place in the GI
tract that they target (Figure 1)
Figure 1. Location of Crohn`s disease (left) and location of Ulcerative colitis (right)
(Overview of Ulcerative Colitis, 2020) Chron`s disease and Ulcerative Colitis target
inflammation development in different, but specific parts of the small and large bowel.
4. Cause: A dysbiotic reaction of the intestinal microflora that results in inflammation of the
gut (Figure 2&3) (Baumgart & Carding, 2007).
Figure 2. Inflammation of the small and large bowel seen in Crohn`s
Disease (Ratini, 2018) Sections of the small and large bowel develop
shallow, crater-like areas or deep sores that cause inflammation.
Figure 3. Inflammation of the colon seen in Ulcerative Colitis (Ratini,
2018) Small ulcers that can develop into bleeding appear on the colon`s
lining, causing inflammation (seen in red patches).
5. Introduction into Inflammatory Bowel Disease
Definition:
IBDs are described by the inappropriate reaction of the mucosal immune system
against the microflora of the gastrointestinal (GI) tract. This is through the means
of the innate and adaptive immune systems, which compromise the functional
integrity of the intestinal barrier (Baumgart & Carding, 2007).
Genetic Link:
It has been showed that IBDs are polygenic conditions, caused by a variable
network of genes - over 100 loci (specific site of genes on a chromosome) being
discovered to trigger the activation of IBDs (Ananthakrishnan, Xavier & Podolsky,
2017).
6. Introduction into Inflammatory Bowel Diseases
Treatment of IBDs is under continuous improvement,
since the traditional medications used today are known to
induce different adverse reactions.
The risk of development is increased both by genetic and
environmental factors (Figure 4), such as:
• Smoking
• Antibiotic exposure
• Environmental hygiene
• Low vitamin D
• Hormones etc. (Ananthakrishnan, Xavier & Podolsky,
2017) Figure 4. Causal factors of IBD (Ananthakrishnan, Xavier &
Podolsky, 2017). This figure shows how genetic, environmental,
immune dysfunction and microbial factors influence each other
to determine disease susceptibility.
7. Epidemiology
• In 2017, there were 6.8 million cases of IBD globally.
The highest amount of cases were found in North
America and the lowest amount in the Caribbean.
• You can develop IBD at any age, however it is usually
diagnosed between the ages of 15 and 40.
• IBD is more prevalent in Caucasians compared to
African Americans, Asians and Hispanics.
• There was no significant difference between the
number of cases depending on whether you liked in
the Northern or Southern hemisphere.
• IBD is genetic condition and can run in most families.
Figure 5. global map of inflammatory bowel disease; red refers to the highest
numbers of recorded IBD compared green which shows the lowest numbers of
recorded IBD, no color means data is unknown (Cosnes, Gower-Rousseau, Seksik &
Cortot. 2011)
8. Epidemiology
• IBD is more prevalent in women
compared to men.
Figure 6. a graph to show incidence rates (per 100,00) comparing males
and females (Victoria, Sussak & Nunes. 2009)
• IBD is more common with
increasing age.
Figure 7. age specific incidence rate of men and women on a global
level (Johnston & Logan, 2008)
9. The genetics and pathogenesis behind IBD
• Inflammatory bowel disease (IBD) is a complex, multi-
genetic disorder (Laddo & Romano, 2015)
• Genome wide association studies have identified and
confirmed 136 susceptible loci
• Genetic analysis identified two autophagy related genes-
IRGM and ATG16l1
Figure 8. Shows the complex pathogenesis of IBD (Loddo &
Romano, 2015)
10. The genetics and pathogenesis behind IBD
• Nucleotide-binding oligomerization domain 2 (NOD2) was the gene
found partly susceptible for Crohn’s disease
Figure 9. Shows the structure of the human HOD2 gene and the 3-common mutation
within the gene which can influence the development of Crohn’s disease ( Yamamoto &
Ma, 2009)
11. The genetics and pathogenesis behind IBD
• Trans-ethnic studies identified 38 new IBD susceptible
loci
Monozygotic twin concordance is significantly higher
than dizygotic concordance rate for both subtypes of
IBD:
• Crohn’s disease- 20%-50% Vs 0%-7%
• Ulcerative Colitis- 14%-19% Vs 0%-5%
Identified genetic factors and susceptibility only
account for a small proportion of disease variance
and genetic risk
Figure 10. showing monozygotic and dizygotic twin shareability of
genes (Osaka University, Twin study)
12. Signs and symptoms of IBD
Common symptoms related to Inflammatory Bowel disease are:
• Weight loss
• Extreme tiredness
• Recurring/blood in diarrhoea
• Pain, cramps or swelling in the stomach
Less frequent signs include: Arthritis, uveitis, erythema and jaundice
Symptoms between patients vary- Not all will experience these. Some may have
additional symptoms e.g. vomiting, anaemia and a high temperature (NHS)
13. Figure 11- An image of the colon, comparing a healthy area and an
affected area because of colitis (Get healthy stay healthy website)
Signs and symptoms of IBD
1) Symptoms of Ulcerative Colitis
Is a ‘long-term condition where the colon and rectum
become inflamed’- which can result in small ulcers on
the lining of the colon. These may produce pus or
bleed.
The major symptoms of Ulcerative Colitis are:
stomach pain, frequent need to empty bowels and
recurring diarrhoea. For some individuals, the
condition has a massive impact on their daily life.
There can also be periods of flare-ups where the
symptoms deteriorate, developing more problems.
There appears to be no trigger identified for these
flare-ups, apart from occasionally the cause is an
infection in the gut. (NHS)
14. Signs and symptoms of IBD
2) Symptoms of Crohn’s disease
Crohn's disease is a ‘lifelong condition where
parts of the digestive system become
inflamed’, impacting upon people of all ages
with symptoms usually beginning in childhood
or early adulthood.
The main symptoms include diarrhoea, blood
located in faeces, fatigue, weight loss or
stomach aches/cramps. (NHS)
Symptoms may be constant or come and go,
these include unpredictable flare-ups that may
disrupt daily life. There is plenty of support
available for patients. (Crohn’s and colitis
website)
Figure 12- A comparison of a normal intestine and an individual’s
intestine affected by Crohn’s disease. (Harvard Health)
15. Diagnosis
Your doctor will only diagnose someone with IBD if all other
possibilities for his/her symptoms have been ruled out. They will
use a combination of different tests and procedures to help with
the diagnosis of IBD.
There are 3 different ways for testing to see if a person has the disease. These are
laboratory tests, endoscopic procedures and imaging procedures:
1. Lab tests for IBD include: A stool study, A blood test for anaemia or infection
2. Endoscopic procedures include: A colonoscopy, flexible sigmoidoscopy, upper
endoscopy, capsule endoscopy, and balloon assisted enteroscopy.
3. Imaging procedures include: An X-ray, computerised tomography scan (CT)
and magnetic resonance imaging (MRI)
Figure 13. showing how a colonoscopy is
performed, one way of diagnosing Crohn’s
disease or Ulcerative Colitis (Mayo Clinic)
16. Treatments for the disease
There is currently no cure for inflammatory bowel disease, however
there are treatments aimed to relieve and prevent symptoms.
Figure 14. Hierarchy showing treatment options
available to help control and manage the
disease (IBD clinic website)
1. Anti-inflammatory drugs: such as corticosteroids, amino salicylates, reduce inflammation in the gut and which
anti-inflammatory drug the patient takes depending on what area of the colon is affected. (Sherwood, L. 2012)
2. Immune suppressants: are another treatment, these include steroids and azathioprine. These suppress the bodies
immune systems activity of releasing inflammation-causing chemicals which can damage the digestive tract.
3. Biological medicines and the newer biosimilars: work in a very similar way, they are needed if the previous
medicine was not strong enough. These are antibody-based treatments that are administered by injection, these
medicines work by targeting the part of the immune system that releases the inflammatory-causing chemicals.
17. Treatments for the disease…
4 . Antibiotics: can be used if the patient is thought to have risk of
infection, these can be used as an addition to the medicine the patient
is already taking. Examples of antibiotics used for Crohn’s disease is
ciprofloxacin and metronidazole.
5. Dietary support: IBD can cause malnutrition and severe weight loss,
this can be combated with seeing a professional dietitian. Or in serious
cases doctors can administer feeding tubes (enteral nutrition) or
nutrients injected into the blood stream directly (parenteral nutrition).
6. Surgery: is the last call when it comes to treatment of IBD, this
surgery consists of removing inflamed parts of large bowel. 1 in 5
people who have ulcerative colitis need surgery and around 60 to 75%
of people with Crohn’s will need surgery
Figure 15. Surgery is a finally resort option
where the patient either has partial or whole
removal of the bowel ( You and IBD website)
18. Conclusion
Inflammatory Bowel Disease
includes two different conditions,
Crohn's disease and Ulcerative
disease.
Both diseases cause:
- Inflammation of the
gastrointestinal tract
- Blood in diarrhea
- Pain or cramps in the stomach
- Weight loss
Depending on which condition the patient had,
will depend on the area affected. Crohn's disease
can affect any part of the digestive tract while
Ulcerative disease only affects the large intestine.
The inflammation occurs due to the immune
response in the gastrointestinal mucosa. This
immune response involves release of cytokines,
interleukins and tumor necrosis factors, which all
are well known to contribute to inflammation.
19. Conclusion...
In order to be diagnosed with either condition, your doctor may conduct many tests.
These include:
- Lab test (most often done on stool) in order to test for blood as it is not always
large enough to be seen by the naked eye.
- Endoscopic Procedures (such as colonoscopy) allow doctors to get imaging of the
affected areas
Once diagnosed yout doctor will treat you with a range of treatments such as anti-
inflammatory drugs, immunosuppressants and surgery
20. References
• Baumgart C. Daniel & Carding R. Simon (2007) Inflammatory bowel disease: cause and immunobiology, The Lancet,
volume 369, Issue 9573, DOI: 10.1016/s0140-6736(07)60750-8
• Ananthakrishnan N. Ashwin, Xavier J. Ramnik & Podolsky K. Daniel (2017) Inflammatory Bowel Diseases. A Clinician`s
Guide, Wiley Blackwell
• Overview of Ulcerative Colitis (2020) Crohn`s & Colitis Foundation, ://www.crohnscolitisfoundation.org/what-is-
ulcerative-colitis/overview
• Ratini Melinda (2018) A visual guide to IBD, WebMD, https://www.webmd.com/ibd-crohns-disease/ss/slideshow-
inflammatory-bowel-overview
• Cosnes, Jacques; Gower-Rousseau, Corinne; Seksik, Philippe & Cortot, Antoine (2011). Gastroenterology-”epidemiology
and natural history of inflammatory bowel disease”, https://www.gastrojournal.org/article/S0016-5085(11)00164-
8/pdf
• Victoria, C.Roberto; Sussak, L.Yukie & Nunes, H.Rubens de Carvalho (2009). “Incidence and prevalence rates of
inflammatory bowel disease in Midwestern Soa Paulo state, Brazil”. Vol.46.
https://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032009000100009&lng=en
• Johnston, Richard.D; Logan, Richard.F (2008). “What is the peak age for the onset of IBD”.
https://www.researchgate.net/publication/23282751_What_Is_the_peak_age_for_onset_of_IBD
21. References
• Loddo, Italia & Romano, Claudio (2015) “Inflammatory bowel disease: Genetics, epigenetics and pathogenesis”,
https://www.frontiersin.org/articles/10.3389/fimmu.2015.00551/full
• Yamamoto, Soichiro & Ma, Xiaojing (2009). “Role of NOD2 gene in development in Crohn’s disease”,
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2924159/
• Cho, Judy.H (2008). “Inflammatory bowel disease: genetics and epidemiologic considerations”,
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2679123/
• https://www2.med.osaka-u.ac.jp/twin/en/twin_research/twins/
• https://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/diagnosis-treatment/drc-20353320
• http://www.ibdclinic.ca/treatment/
• http://www.youandibd.com/en-ibd/view/m301-s8-small-bowel-and-large-bowel-surgery-for-ibd-slide-show
• https://www.nhs.uk/conditions/inflammatory-bowel-disease/
• https://www.gethealthystayhealthy.com/articles/living-with-ulcerative-colitis.
• https://www.nhs.uk/conditions/ulcerative-colitis/
• https://www.nhs.uk/conditions/crohns-disease/
• https://www.health.harvard.edu/a_to_z/crohns-disease-a-to-z
• https://www.crohnsandcolitis.org.uk/
• Sherwood, L. (2012, June 18) Introduction to Human Physiology, 8 th Edition, Cengage Learning inc.
