Coeliac disease
Malabsorption
Maldigestion
Krisztina Gecse, MD, PhD
First Department of Medicine
Semmelweis University
Budapest, Hungary
Coeliac disease, malabsorption, maldigestion
Overview
Coeliac disease
• Patomechanism
• Classification
• Signs and symptoms
• Diagnosis
• Treatment
• Complications
Malabsorption, maldigestion
• Definitions
• Etiology
• Signs and Symptoms
• Diagnosis
Coeliac disease (gluten-sensitive
enteropathy/nontropical sprue)
Patomechanism
• Loss of immune tolerance
•
•
•
•
http://bestpractice.bmj.com; Plenge RM Nature Genetics 2010
to gliadin peptide antigens
derived from wheat, rye,
barley, and related grains
High-affinity binding to HLA
peptides (DQ2 or DQ8)
found on APCs
Activation of Th cells
Th1: cell death and tissue
remodelling (villous atrophy
and crypt hyperplasia)
Th2: plasma cell maturation
and anti-gliadin and antitTG antibody production
Coeliac disease
Classification
• Classic
• diarrhea,
• symptoms of malabsorption such as steatorrhea,
• weight loss, or other signs of nutrient or vitamin deficiency
• possess antibodies against gliadin and tissue transglutaminase (tTG)
• typical histology features
• Atypical
• minor gastrointestinal complaints
• osteoporosis, arthritis, increased transaminases, neurological
symptoms, or infertility
• typical mucosal damage and celiac specific antibody pattern
Coeliac disease
Classification
• Asymptomatic (Silent)
• incidental diagnosis (no or only mild clinical symptoms)
• based upon screenings for antibodies against gliadin or tissue
transglutaminase
• typical architectural remodelling on histology
• Latent
• minor or no symptoms
• , positive serology, but normal jejunal mucosa
• eg.: childhood disease
Coeliac disease
Signs and symptoms
• Presents between the ages of 10 and 40 years
• GI manifestations: diarrhea, steatorrhea, flatulence
• Consequences of malabsorption:
• iron-deficiency anaemia,
• weight loss,
• neurologic disorders (vitamin B deficiency),
• osteopenia (deficiency of vitamin D and calcium)
• Associated diseases:
• Type 1 DM
• Sjögren-sy
• Allopecia areata
• Dermatitis herpetiformis Duhring
• Autoimmune hepatitis
• Autoimmune thyreoiditis
Coeliac disease
Diagnosis
• Clinical signs and symptoms
• Serology
• anti-tissue transglutaminase (TTG) antibody IgA, IgG
• Anti-endomysial antibody IgA
• Anti-deamidated gliadin peptides (DGPs) IgG
N.b.: serology may turn negative on gluten-free diet
• Gluten challenge
• HLA DQ2/DQ8 testing
• Endoscopy:
• scalloping of the small bowel folds
• mucosal mosaic pattern or "cracked-mud”
Coeliac disease
Diagnosis
• Histology: Marsh classification
Rubio-Tapia A Am J Gastroenterol 2013, http://openi.nlm.nih.gov
Coeliac disease
Treatment
• Lifelong adherence to a gluten-free diet - consultation with a
dietitian:
• foods containing wheat, rye, and barley should be avoided
• soybean, rice, corn and potatoes are safe
• stabilizers or emulsifiers may contain gluten
• distilled alcoholic beverages and wine are gluten free; beers, ales,
lagers, and malt vinegars should be avoided
• dairy products not be well tolerated initially, due to secondary
lactose intolerance
• oats can be introduced with caution
• Education about the disease
• Identify and treat nutritional deficiencies
• Continuous long-term follow-up
Coeliac disease
Complications
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•
•
•
•
consequences of malabsorption
malnutrition
enteropathy-associated T-cell lymphoma (EATL)
adenocarcinoma
collagenous sprue (rare)
Maldigestion and malabsorption
Definition and etiology
• Maldigestion: abnormal digestion – nutrient break-down
due to insufficiency of gastric, pancreatic or bile function
• Gastrectomy
• Exocrine pancreatic insufficiency: chr. pancreatitis, CF, resection
• Cholestasis, bile loosing sy: eg.: ileum resection in CD
• Malabsorption: abnormal absorption of the broken-down nutrients
due to mucosal, vascular or lymphatic abnormalities digestion
• Mucosal injury/lack of absorptive surface:
coeliac disease, M. Crohn, lactase intolerance, amyloidosis,
radiation enteritis, short bowel sy.
• Vascular:
mesenteric ischemia, right sided congestive heart failure
• Lymphatic:
M. Whipple
Maldigestion and malabsorption
Signs and Symptoms
• Diarrhoea (watery: carbs and bile acids; steatorrhea: lipids)
• Weight loss
• Nutrient deficiencies (both qualitative and quantitative)
• protein malabsorption --> hypoproteinaemiac oedema
• Fe
• Folic acid
--> anaemia
• B12
• Ca
• Vitamin D
--> osteoporosis, osteopenia
• Vitamin K
• Vitamin B
• Vitamin A
--> coagulopathy
--> neuropsychiatric
--> hairloss, breaking nails, vision
Maldigestion and malabsorption
Diagnosis: A. Morphological imaging of
the small bowel - endoscopy
1. Push enteroscopy
2. Double-balloon enteroscopy
200cm enteroscope + 140cm overtube
balloon on the enteroscope and the overtube
3. Single-balloon enteroscopy
Yamamoto et al. Gastrointest Endosc 2001; Tsujikawa et al. Endoscopy 2008
Maldigestion and malabsorption
Diagnosis: A. Morphological imaging of
the small bowel
Maldigestion and malabsorption
Diagnosis: A. Morphological imaging of
the small bowel
4. Capsule endoscopy
https://www.youtube.com/watch?v=9qnvSrqV6Lw
Maldigestion and malabsorption
Diagnosis: A. Morphological imaging of
the small bowel - radiology
1. X-ray: native, mono- or double contrast
2. CT-enterography or enteroclysis
3. MR enterography
Maldigestion and malabsorption
Diagnosis: B. Functional imaging of the
small
bowel
1. D-xilose test: 5g D-xilose in 300ml water
Background: D-xilose is absorbed and not metabolised
excretion in the urine can be measured
Use: differentiates between malabsoption and maldigestion
2. Schilling test: radio-labelled B12 per oral
Background: absorbed in the terminal ileum,
urine excretion can be measured
Use: renal excretion is low if malabsorption in the terminal ileum
(even after addition of IF)
3. Oral iron challenge:
Background: iron absorbs in the proximal small bowel
Use: no increase in serum iron level in case of malabsorption
4. Lactose H2 breath test
5. Lactulose H2 breath test