Coeliac disease Flashcards
What are the symptoms of coeliac disease?
- chronic diarrhoea
- Fatigue
- Bloating
What are the characteristics of coeliac disease?
- Chronic
- Systemic
- Immune-mediated disorder
- Affects genetically predisposed pts
- Triggered by ingesting gluten
- Has serious morbidity if untreated and up to 4 fold increase in risk of death
- Can be associated with bowel cancers/lymphoma
- Can be associated with other autoimmune conditions (thyroid, type 1 DM, RA)
What happens when someone with coeliac disease ingests gluten
- Mucosal inflammation
- Crypt hyperplasia
- Villous atrophy
- The immune system mistakenly thinks the gluten is a foreign invader
What is the presentation of someone with coeliac disease
- Non specific GI symptoms
- Malabsorption (diarrhoea, nutritional deficiencies- with consequences including anaemia, osteoporosis)
- Can be associated with bowel cancers/lymphoma
What is the treatment for coeliac disease?
strict gluten free diet (GFD)
- Potentially reversible villous atrophy in most cases on a strict GFD
- Rare cases are refractory
Outline the genetic predisposition involved in coeliac disease
- All pts with CD carry HLA-DQ2 (95% of pts) or DQ8 (5% of pts)
- Not all positive gene tests have CD. About 30-50% of the general pop. without CD are carriers of the gene . Therefore HLA testing is a good NEGATIVE predictor- cos if they DON’T have the gene, they are very unlikely to ever develop the disease
How do we diagnose CD
- OGD & duodenal biopsies are gold standard
- Increased intraepithelial lymphocytes, crypt hyperplasia & villous atrophy
- Blood tests could come out with a lot of false negatives/positives
How can we classify the histology of the duodenum
MARSH CLASSIFICATION:
- Includes 3 factors: intraepithelial lymphocytosis, crypts & villi
- Marsh score run from 0-4 ( 0 being normal)
Outline the GI clinical manifestations of CD
- Diarrhoea
- Flatulence
- Abdominal cramps
- Nutrient deficiency
- Weight loss
- Abnormal liver enzymes
RARE=
- ulcerative jejunitis
- Enteropathy-associated T-cell lymphoma (EATL-a Non Hodgkin’s lymphoma)
Outline the haemotological clinical manifestations of CD
- Anaemia (iron or folate less common B12
- Hyposplenism
- Bleeding disorders
Outline the skin clinical manifestations of CD
dermatitis herpetiformis (blistering intensely itchy rash on extensor surfaces)
Outline the musculoskeletal clinical manifestations of CD
- osteopenia
- osteoporosis
- stunted growth in children
- vitamin D deficiency and hypocalcaemia
What is osteopenia
- Think of it as a midpoint between having healthy bones and having osteoporosis.
- Bones are weaker than normal but it is not a disease
- Have a lower bone density than normal
- increases your chances of developing osteoporosis
Outline the neurological clinical manifestations of CD
- Muscle weakness
- Paraesthesia
- Ataxia
- Seizures(may occur secondary to cerebral calcification
Outline the hormonal clinical manifestations of CD
- Amenorrhoea
- Infertility