What is the pathophysiology of coeliacs?
*autoimmune disease
autoantibodies (anti-tissue transglutaminase (anti-TTG) and anti-endomysial (anti-EMA)) are created in response to gluten, and they target epithelial cells of the intestine and leads to inflammation and atrophy of villi vital for absorption
What is the classical presentation of coeliac?
9-24 months of age, with failure to thrive, weight loss, loose stool, steatorrhoea, anorexia, abdominal pain and distension, miserable child with behavioural changes
What are some other sx of coeliac disease?
- diarrhoea
- fatigue
- weight loss
- failure to thrive in young
- mouth ulcers
- skin rash - dermatitis herpetiformis
What are some complications of coeliac disease?
- vitamin deficiency
- anaemia
- osteoporosis
- ulcerative jejunitis
- non-hodgkin lymphoma
- small bowel adenocarcinoma
- fertility problems
- depression and anxiety
How is coeliacs investigated?
- diagnosis - investigations done when remaining on a gluten diet otherwise cannot detect autoantibodies or inflammation
- total immunoglobulin A levels to exclude IgA deficiency then specific antibodies like anti-TTG and anti-EMA
- endoscopy and intestinal biopsy - duodenal biopsy
- crypt hypertrophy
- villous atrophy
- check for other conditions like T1DM
How is coeliacs managed?
- lifelong diet free of gluten
- dairy products, fruit and veg, meat and fish, potatoes, rice, rice/ corn/ soy or potato flour
- diet supplements like iron
- annual follow up to check for symptoms, growth and long term complications
What are some secondary causes of constipation?
Hirschsprung’s, CF, sexual abuse, cow’s mild intolerance or hypothyroidism
What is encopresis?
- faecal incontinence
- not pathological until 4 years of age
What are come causes of constipation?
- habitually not opening bowels
- low fibre diet
- poor fluid intake and dehydration
- sedentary lifestyle
- psychosocial like stressful home or school, think safeguarding!
What is the common presentation of constipation?
- less than 3 stools a week
- hard stools difficult to pass
- rabbit dropping stools
- straining and painful passage of stools
- abdominal pain
- holding an abnormal posture - retentive posturing
- rectal bleeding associated with hard stools
- faecal impaction causing overflow soiling with incontinence of particularly loose smelly stools
- loss of sensation of the need to open bowels
What are some complications of constipation?
- pain
- reduced sensation
- anal fissures
- haemorrhoids
- overflow and soiling
- psychosocial morbidity
How might constipation be managed?
- reassure parents about lack of underlying concerning causes
- explain constipation is prolonged process, may last months
- correct any reversible factors like increasing fibre, hydration
- start movicol laxatives - continue long terms and weaned off when regular
- impactions requires high dose laxatives for disimpaction regimen
- encourage and praise toileting, involve schedules, bowel diaries and star charts
What is the pathophysiology of GORD?
contents from stomach reflux through lower oesophageal sphincter into oesophagus, throat and mouth, due to tone of this muscular portion being too low
*in babies due to immaturity of LOS reflux is normal providing growth and development normal - 90% grow out of it by 1 year
How might GORD present in children?
- distinguish between GOR and GORD
- distressed behaviour - crying, neck postures and back-arching
- unexplained feeding difficulties
- hoarseness to voice or chronic cough
- single episode of pneumonia
- faltering growth
- vomiting - non specific
- retrosternal or epigastric pain
How would you investigate GORD?
- reassurance and practical guidance
- advise
- small frequent meals
- burping to help milk settle
- not over-feeding
- keep baby upright (30) after feeding
- sleep on back to avoid SIDS
- problematic cases can justify tx
- alginate, gaviscon mixed with feeds
- thickened milk or formula trial
- PPI like omeprazole if severe
- consider surgical fundoplication in very severe cases
How might hepatitis present?
- abdominal pain
- nausea
- yellowing
- high temperature
- malaise and fatigue
- diarrhoea
- joint pain
- itchy red hives
How is hepatitis managed?
- supportive - most will resolve overtime? rest and hydration
- admission if severe and closely monitoring
- coagulopathy - IV vitamin K
- antivirals?
- prevent spread
- transplant if needed
- vaccination advice
What is crohns?
- Characterised by transmural inflammation in the affected region of bowel, producing deep ulcers and fissures (‘cobblestone’ appearance), skip lesions
- Non-caseating granulomatous inflammation
- inflammation occurs in all layers, down to serosa leading to fistulae commonly form, also strictures and adhesions
How might IBD present in children?
perfuse diarrhoea, abdominal pain, bleeding, weight loss or anaemia. They may be systemically unwell during flares, with fevers, malaise and dehydration
*other crohns sx
How might you investigate crohns?
- Routine bloods - inflammatory markers, anaemia, infection, thyroid, kidney and liver function. A raised CRP indicates active inflammation
- low B12 and vitamin D
- Faecal calprotectin, stool sample usually when in flare up
- Colonoscopy is gold standard investigation with biopsies taken to confirm the diagnosis + OGD
- showing deep ulcers, skip lesions
- Imaging – CT scan abdomen pelvis in severe Crohn’s disease, MRI, EUA with proctosigmoidoscopy may be considered to examine and treat perianal fistulae present
- histology - inflammation in layers from mucosa to serosa, goblet cells, granulomas
How is Crohns managed?
- MDT care - paediatric gastroenterologists, paediatric surgeons, psychologists, dieticians, nutritionists and other healthcare professionals
- psychosocial support for the families
- inducing remission - steroids oral prednisolone or IV hydrocortisone
- maintaining remission - Azathioprine or Mercaptopurine
- surgical resection of affected bowel, treatment of strictures and fistulas
What is UC?
Characterised by diffuse continual mucosal inflammation of the large bowel beginning in the rectum and spreading proximally, never spreads beyond ileocaecal valve
What are the histological changes seen in UC ?
non-granulomatous inflammation of the mucosa and submucosa, crypt abscesses and goblet cell hypoplasia
How is UC investigated?
- Blood tests for anaemia, infection, thyroid, kidney and liver function. A raised CRP indicates active inflammation.
- Faecal calprotectinis released by the intestines when inflamed. It is a useful screening test and is more than 90% sensitive and specific for IBD in adults.
- Endoscopy(OGD and colonoscopy) with biopsy is the gold standard investigation for diagnosis of IBD
- avoid colonoscopy in in severe colitis due to risk of perforation and flexible sigmoidoscopy preferred
- red mucosa that bleed easily, pseudopolyps, crypt abscesses, inflammatory cells in lamina propria, depletion of goblet cells
- Imagingwith ultrasound, CT and MRI can be used to look for complications such as fistulas, abscesses and strictures
