Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

M104 T1 > M104 T1 L12 > Flashcards

M104 T1 L12 Flashcards

(84 cards)

Start Studying
1
Q

What is celiac disease otherwise known as?

A

celiac sprue

gluten-sensitive enteropathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What main three substances is gluten commonly found in?

A

wheat, rye, and barley

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What two substances does gluten consist of?

A

gliadin and glutenins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What genes are associated with Coeliac Disease?

A

HLA - DQ2 gene (95%)

HLA - DQ8 gene (5%)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Which chromosome are the HLA – DQ2 & - DQ8 genes located?

A

CMS 6p21

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Is Coeliac disease hereditary?

A

yes - it has a strong hereditary predisposition

affects 10% of first degree relatives

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Globally, where is Coeliac disease most prevalent?

A

Western Europe

the USA, especially for those of Irish / Scandinavian descent

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Globally, where is Coeliac disease increasing in prevalence?

A

Africa and Asia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Is Coeliac disease a well diagnosed condition?

A

no - a lot of patients in the community are undiagnosed

it requires a high index of suspicion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What conditions have a high prevalence of coeliac disease?

A

Down’s syndrome
Type I diabetes mellitus
auto-immune hepatitis
thyroid gland abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What percentage of patients with coeliac disease are older than 60?

A

approx 20%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

How does gluten cause coeliac disease?

A

Gluten (from diet) + small bowel mucosa produces tissue transglutaminase
this diamidates glutamine in gliadin, producing a negatively charged protein, IL – 15
NK cells + Intraepithelial T lymphocytes results in tissue destruction and villous atrophy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is transglutaminase otherwise known as?

A

meat glue

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the role of IL – 15?

A

it stimulates CD8 T cell and NK cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What types of coeliac disease are there symptoms wise? (ACA)

A

Asymptomatic (detected by a blood test)
Classical coeliac disease
Atypical coeliac disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are the symptoms of coeliac disease caused by?

A

the flat mucosa not absorbing nutrients

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What are the symptoms of Classical Coeliac Disease?

A 
Diarrhoea
Flatulence (28%)
Borborygmus
Weight loss (45%) 
Weakness & fatigue (80%)
Severe abdominal pain 
IBS-like symptoms
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What are the symptoms of Atypical Coeliac Disease?

A

Anaemia (15%)
Osteopenia and osteoporosis
Muscle weakness, pins and needles, loss of balance (minority)
Itchy skin conditions (minority)
Lack of periods (delayed in teens)
infertility and impotence
Bleeding disorders (due to Vitamin K deficiency)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is an example of an Itchy skin condition?

A

dermatitis herpetiformis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What are the features of an atypical presentation of coeliac disease?

A

Emaciation
Pot belly due to gaseous distention
Muscle wasting
Osteoporosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What are the general investigations for coeliac disease?

A

FBC, U&Es, LFTs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What are the serological investigations for coeliac disease?

A

the presence of TTGA
the presence of Endomysial IgA
Deamidated gliadin peptide IgA & IgG (new)
For monitoring compliance to gluten free diet
Sero-negative coeliac disease
HLA DQ2 & HLA DQ8 in children with positive TTGA and symptoms to avoid biopsies
Duodenal biopsies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

How do routine coeliac disease tests work?

A

They assess tissue damage
When the small bowel is exposed to gluten there is overreaction of the immune system to produce antibodies to the proteins involved in tissue damage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What proteins involved in tissue damage have antibodies produced for them?

A

Tissue transglutaminase
Endomysium
Deamidated gliadin peptide

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Where and how many biopsies should be sampled from the intestines?
At least four from the duodenum at upper GIT endoscopy as changes can be patchy
26
What are the microscopic features of Coeliac disease?
Villous atrophy Crypt hyperplasia Increase in lymphocytes in the lamina propria / chronic inflammation Increase in intraepithelial lymphocytes Recovery of villous atrophy on gluten-free diet
27
What are the complications of coeliac disease?
Enteropathy associated T-cell lymphoma High risk of adenocarcinoma of small bowel and other organs May be associated with dermatitis hepetiformis Infertility and miscarriage Refractory coeliac disease despite strict adherence to gluten free diet
28
In what organs is there a high risk of adenocarcinomas developing as a complication of coeliac disease?
the SI the large bowel the oesophagus the pancreas
29
What may reduce risk of complications for coeliac disease?
a gluten free diet
30
What conditions come under IBD?
``` CD, UC Diverticular disease Ischaemic colitis Drug-induced colitis – NSAIDs Infective colitis idiopathic inflammatory disease ```
31
Why is it important to distinguish CD from UC?
they have different complications and different surgical procedures
32
What is Crohn's disease complicated by?
fibrosis and obstructive symptoms
33
What parts of the GI tract can Crohn's disease affect?
any part of the GIT from mouth to anus
34
What is the global spread of Crohn's disease?
has a high prevalence in the Western world has an increasing incidence in Africa, South America and Asia Bimodal presentation with peaks in the teens-20s and 60-70 year olds
35
What group is Crohn's disease especially high in?
in patients of Jewish origin
36
What is the cause of CD?
exact cause is unknown there are – all have been implicated Defects in mucosal barriers allow pathogens and other antigens to induce an unregulated inflammatory reaction
37
What are the factors that potentially contribute to CD?
genetic, infectious, dietary, immunologic, smoking, environmental, vascular (GIDISEV) NSAIDs and psychological factors
38
What are the genetics of CD?
genetic predisposition is highly probable | No classical Mendelian inheritance but polygenic
39
What are the genes that could lead to a genetic predisposition towards CD?
NOD2 gene | CARD15 gene on cms 16
40
What does the CARD15 on cms 16 code for?
a protein associated with uncontrolled inflammatory response to luminal contents and microbes
41
What is the increased risk first degree relatives have of developing CD?
13-18% increased risk of with a 50% concordance in monozygotic twins
42
Is there a possible infectious cause of CD?
bc granulomas are present in 60-65% of patients, mycobacterium para-tuberculosis was extensively investigated as a possible cause but never proven
43
What infectious organisms have been implicated as possible infectious causes of CD?
mycobacterium para-tuberculosis measles virus pseudomonas listeria
44
What are the dangerous effects of listeriosis?
fever, meningitis | miscarriage, premature birth
45
How is listeriosis spread?
by eating food contaminated with listeria
46
What groups of people does listeriosis primarily affect?
pregnant women, newborns | the elderly, people with weakened immune systems
47
What environmental factors are implicated in Crohn’s Disease?
Improved Hygiene Hypothesis Migration from a low risk population to high risk population increases the risk of developing CD Cigarette smoking doubles the risk of developing CD
48
What does the Improved Hygiene Hypothesis state?
that improved hygiene in susceptible individuals reduces enteric infections this reduces the ability of the GIT mucosa to develop regulatory processes that would normally limit immune response to pathogens which cause self-limiting infections
49
What are the clinical features of CD?
Chronic, indolent course punctuated by periods of remission and relapses Abdominal pain, relieved by opening bowels Prolonged non-bloody diarrhoea Blood may be present if the colon is involved Loss of weight, low grade fever
50
What is the distribution of CD?
Small bowel alone – 40% Large bowel alone – 30% Small and large bowel – 30%
51
What are the morphological features of CD?
Fat wrapping of the serosa skip lesions cobblestone pattern (caused by mucosal ulceration) strictures (fibrosis)
52
What does fat wrapping of the serosa involve?
fat deposition on the anterior surface which is usually fat-free
53
What is the effect of fat wrapping in Crohn's disease at the time of a surgery
it can assist the surgeon to demarcate the extent of the disease in the small bowel
54
What are the microscopic appearances of CD?
Transmural / full thickness inflammation of the bowel wall Mixed acute and chronic inflammation i.e. polymorphs and lymphocytes Preserved crypt architecture Mucosal ulceration Fissuring ulcers (deep crevices) Granulomas (collection of macrophages) present in 60 - 65% Fibrosis of the wall
55
What are the complications of CD?
Intra-abdominal abscesses Deep ulcers lead to fistula = communication between two mucosal surfaces Sinus tract = blind ended tract ends in a “cul de sac” Obstruction due to adhesions Obstruction due strictures caused by increased fibrosis Perianal fistula and sinuses Risk of adenocarcinoma, but not as high as in UC
56
What is the difference between UC and CD?
unlike CD, UC's inflammatory process is confined to the mucosa and sub-mucosa except in severe cases
57
What is the epidemiology of UC?
More common in Western countries with higher prevalence in patients of Jewish descent Less frequent in Africa, Asia and South America Can arise at any age but rare before the age of 10 Peaks between 20-25 years with a smaller peak in 55-65 year olds
58
What causes UC?
unknown but multiple factors are implicated Genetic predisposition not as well defined as in CD High incidence in first degree relatives and high concordance in twins no specific infective agent has been identified
59
What gene is commonly identified in most patients with UC?
HLA-B27 identified in most patients with UC, but not thought to be an aetiological factor
60
How do environmental factors affect UC?
Smoking is protective in UC -; cessation of smoking may trigger UC or activate disease in remission NSAIDs exacerbates UC Antioxidants Vitamins A & E are found in low levels in UC
61
What are the clinical features of UC?
``` Intermittent attacks of bloody diarrhoea Mucoid diarrhoea Abdominal pain Low grade fever Loss of weight ```
62
What areas are affected by UC?
the large bowel from rectum to the caecum the rectum only - proctitis left sided bowel only - splenic flexure to rectum whole large bowel - total colitis
63
What are the macroscopic features of UC?
there are no ulcers on endoscopic examination in early disease, despite the term ‘ulcerative’ there is diffuse mucosal involvement which appears haemorrhagic with chronicity, the mucosa becomes flat with shortening of the bowel
64
What are the microscopic features of UC?
Inflammation confined to the mucosa Diffuse mixed acute & chronic inflammation Crypt architecture distortion In quiescent (inactive) UC, the mucosa may be atrophic with little or few inflammatory cells in the lamina propria
65
What are the complications of UC?
Toxic megacolon Refractory bleeding Dysplasia / adenocarcinoma in patients at risk
66
What are symptoms of a toxic megacolon?
Patient very ill Bloody diarrhoea Abdominal distention Electrolyte imbalance with hypoproteinaemia
67
What patients are at risk of dysplasia or adenocarcinoma complications of UC?
patients who have had UC at an early age | patients with total unremitting UC
68
After how many years will a UC patient require annual screening colonoscopy?
after 8-10 years
69
What are the extra-intestinal manifestations of CD & UC? (OCAH)
Ocular Cutaneous Arthropathies Hepatic
70
What are examples of ocular manifestations of CD & UC?
uveitis, iritis, episcleritis
71
What are examples of cutaneous manifestations of CD & UC?
erythema nodosum | pyoderma gangrenosum
72
What is an example of arthropathies manifestations of CD & UC?
ankylosing spondylitis
73
What is an example of hepatic manifestations of CD & UC?
screlosing cholangitis
74
What are the investigations in CD & UC?
``` FBC, U & Es, LFTs Inflammatory markers – CRP Faecal Calprotectin Endoscopy, biopsies Radiological imaging ```
75
What inflammatory marker is tested for when investigating CD & UC?
C reactive protein
76
What radiological imaging methods are used to investigate CD & UC?
Barium studies | MRI, USS, CT Scan
77
What are the differences in presentation between CD & UC?
Bleeding: CD - occasional, UC - very common Obstruction: CD - common, UC - uncommon Fistula: CD - common, UC - none Weight loss: CD - common, UC - uncommon Perianal disease: CD - common, UC - rare Distribution: CD - entire GIT, skip lesions / UC - large bowel only, continuous
78
What are the differences in pathology between CD & UC?
CD - full thickness, UC - mucosa only CD - fissuring ulcers, UC - no ulcers early stages CD - granulomas 60 -65%, UC - no granulomas CD - crypt architecture preserved, UC - crypt architecture distortion
79
What are the differences in radiology between CD & UC?
CD - skip lesions, fistula abscess, fibrotic strictures UC - continuous process
80
What are the differences in cancer risk between CD & UC?
CD - increased | UC - much higher 1% at 10yrs of diagnosis
81
What are the differences in the effect of smoking between CD & UC?
CD - makes it worse | UC - makes it better
82
Why is a pouch created after surgery in UC patients?
as a stool reservoir following the surgical removal of the large bowel
83
What is a pouch created from for UC patients?
from the small bowel
84
What is a pouch not created for CD patients?
bc of the risk of recurrence

M104 T1 (15 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions