Celiac Disease Lecture Notes Fall 2024 PDF

Chronic GI & GU Lectures -- Fall 2024 GI Celiac Disease - **Autoimmune disorder** - Degradation, flattening, erosion of small intestine villi **malabsorption** - Reversible - Prevalence: Females x2 as likely, family hx, other autoimmune disorders - Pathophysiology -...

Chronic GI & GU Lectures -- Fall 2024 GI Celiac Disease - **Autoimmune disorder** - Degradation, flattening, erosion of small intestine villi **malabsorption** - Reversible - Prevalence: Females x2 as likely, family hx, other autoimmune disorders - Pathophysiology - Exposure to gliadin in gluten cannot be broken down inflammatory response **villous atrophy, mucosal inflammation, crypt hyperplasia** antibodies produced (tTG-IGA, EMAs, antibody IgA) - Wheat, barley, rye, some oats - Symptoms - Usually presents at 6-24 months of age because of solids introduction - Diarrhea, steatorrhea, constipation - Anorexia - Abdominal pain/distension - FTT/weight loss - Dermatitis herpetiformis -- pruritic, popular vesicular, less common prior to puberty - Assessment - Growth charts - Puberty delay? - Other autoimmune disorders - Family hx - General appearance, mouth & teeth, skin, GI, MS (frequent fractures) - Initial testing - Must be on gluten-containing diet x 6 weeks - First-line serologic testing - Antibody testing (tTG-IgA antibodies against gliadin) AND Total IgA to establish baseline - Second line serologic testing - Measure EMA - Gold standard: endoscopy w/ intestinal biopsies - Abnormal = confirmed - Normal = potential CD, not necessarily r/o - Ddx - FTT, IBD, GERD, chronic diarrhea, giardia, drug-induced malabsorption (ex. NSAIDs), lactose intolerance, short stature - Management - **C**onsultation w/ a dietitian - **E**ducation - **L**ifelong compliance w/ gluten-free diet - **I**dentify & treat nutritional deficiencies - Iron deficiency anemia, vitamin D deficiency - **A**ccess to an advocacy group and/or health behavior support - **C**ontinuous long-term follow-up - Refer to GI - Monitor nutrition and growth - Complications - Growth failure (primary) - Osteoporosis (r/f fractures) - Cancer (lymphoma) - Celiac crisis Irritable Bowel Disease - Hallmark: alternating periods of inflammation and remission - Immune-mediated - Crohn's - Transmural inflammation and skip lesions - Mouth to anus - Ulcerative colitis - Limited to mucosal layer of the colon  - S/S - Abdominal pain, cramping, tenderness (often in RLQ) - Tenesmus -- urge to stool due to inflammation of nerves in rectum - Fatigue - Diarrhea & bloody stools - Fever during flares - Growth restriction & weight loss - Anemia, leukocytosis, albuminemia, elevated calprotectin, elevated inflammatory markers - Perianal disease: fissures, skin tags, hemorrhoids, fistulae - Oral ulcerations: aphthous stomatitis - Rash: erythema nodosum or pyoderma gangrenosum - Uveitis - Hepatitis and jaundice - Arthritis - Diagnostic testing - Endoscopy is first line testing for any child with rectal bleeding and perianal disease - Upper & lower GI series - Multiple biopsies from various location - Blood tests: CRP, Hgb, calprotectin (intestinal inflammation marker) - Stool tests: enteric pathogens and fecal calprotectin - Imaging - Magnetic resonance enterography (MRE) is gold standard for imaging, detects inflammatory changes - If child can't cooperate with intermittent breath holding, swallowing oral contrast, they need CTE - Endoscopy - Ddx - Functional abdominal pain (IBS, constipation, etc.) - Anal fissures, polyps, hemorrhoids - Henoch schonlein purpura (IgAV) - Meckel's diverticulum - Milk protein-induced proctocolitis (infants) - Celiac disease - Enteric pathogens - Intussusception Functional Abdominal Pain - Majority of children who have recurrent abdominal pain have no discernible organic cause for pain. - Referred to as: FAP-NOS or recurrent abdominal pain - Occurs 4x per month for at least 2 months preceding diagnosis - abdominal pain (continuous or episodic, does not occur with other events i.e. eating or menses) - does not meet criteria for IBS/dyspepsia/abdominal migraine; cannot be explained by any other medical condition - Diagnosis of Exclusion! - Most common *pain* complaint in early childhood! - Ddx -- PUD, H. Pylori, GER, Eosinophilic Gastroenteritis, Pancreatitis, Cholecystitis (rare, increased chance with obesity, family hx, IBD, Celiac Disease, Constipation, Malabsorption, UTI, gyn disorder, sexual abuse - History/ROS - Usually periumbilical, epigastric, does not radiate - When? - Fmhx food allergies, IBD - Hx surgeries, cleft lip/palate, congenital disorders, esophageal atresia - Any signs of apnea, RAD, autoimmune, cardiac? - Physical exam - Growth charts - Hydration - Abdomen- bowel sounds, percuss, palpate, assess for peritoneal irritation - walk, jump, cough, heel-jar - rebound/Rovsing (palpation to L iliac fossa produces pain in R iliac fossa) - obturator, psoas signs - Rectal and Gyn exams as needed - Diagnosis of exclusion - Thorough Hx & PE - CBC w/ diff - UA + culture - Serum chemistry screen/liver, lipid profiles, ESR, CRP, thyroid fxn - Stool -- O&P, culture, blood, WBCs, pH, reducing substances - Fecal fat collection for 72 hrs -- r/o malabsorption - Serum IgA, IgG and TTG (tissue transglutaminase) antibody to r/o celiac - Other tests as indicated- if sexually active: pregnancy test, pap, vaginal cx, G&C - Consider ultrasound and esophageal pH if red flags - Recurrent abdominal pain in patients younger than 4 years - Fever, weight loss, growth failure - Increasing pain, weight loss, etc. over time - Bilious vomiting, diarrhea, perianal disease - Flank pain or radiation to back, shoulders - Pain awakens from sleep - Visible blood or positive guaiac stool - Abnormal UA/cx - Family history of IBS or PUD - Screening blood test with anemia, hypoalbuminemia, elevated ESR, abnormal AST/ALT - Localized pain, especially away from periumbilical area - S/S - Personality of child, parenting style, school performance - Crampy, dull pain, no radiation - Periumbilical in location - Nothing relieves pain - Interferes with activities - NO NIGHT AWAKENINGS - Not related to food - Normal growth - Afebrile - Generalized tenderness to abdomen, no guarding - Overall normal PE - Management - Reassurance that child is healthy - Pain is real - Normal daily routine, no secondary gains - Decrease stress - Limited evidence about medications - Peppermint oil - Stool softeners, fiber, probiotics - PPI- GER mgmt., limited evidence of relief - Keep pain diary - Explore psychological triggers and management strategies - Regular follow-up Irritable Bowel Syndrome (IBS) - Chronic condition involving altered bowel habits and bloating, not explained by other structural or biochemical abnormalities. - 4 subgroups = IBS-D (diarrhea), IBS-C (constipation), IBS-A (mixed-alternating stool forms), and IBS-U (unclassified) - Rome IV Criteria- Recurrent abdominal pain on average at least 1 day/week in the last 2 months: - Related to defecation - Associated with a change in frequency of stool - Associated with a change in form (appearance) of stool - The pain does not resolve with the resolution of constipation. - Symptoms cannot be explained by any other medical condition (after appropriate work-up). - Work-up - Normal PE and growth - No red flag findings - No specific lab markers! - Ddx includes all those discussed w/ functional pain - Management - avoid trigger foods (caffeine, carbonated drinks, large meals, fatty foods, lactose, gas-producing foods) - add probiotics - Work with family to create plan to address psychosocial factors- CBT, yoga, avoiding triggers Hirschsprung's Disease - **Congenital Aganglionic Megacolon** - What is Hirschsprung's? - Rare congenital abnormality, resulting in obstruction of the intestine and megacolon (dilated colon) - Inadequate motility of the intestine results from an aganglionic section (innervated tissue) usually in the distal colon - Usually in full term infants with history of delayed passage of meconium within 24-48 hours - More common in males- 4x - S/S - Newborn with delayed passage of meconium - History of chronic constipation since birth with passage of ribbon-like, foul-smelling stools - Bilious vomiting - Abdominal distention (sometimes visible peristalsis) - Poor feeding or FTT - Poor weight gain - Episodes of vomiting and diarrhea - Explosive watery diarrhea - Fever and exhaustion are signs of enterocolitis - Diagnosis - **Rectal biopsy** showing absence of ganglion cells is most reliable indicator of Hirschsprung - **Abdominal radiograph** shows dilated loops of the bowel - **Barium enema** shows transition zone between normal dilated proximal colon and smaller obstructed distal colon, delayed evacuation of barium - **Anorectal manometry** not routinely done in infants - measures pressure/how rectum is functioning (balloon like procedure) - Labs not necessary unless febrile - Management - Surgical procedure to remove unhealthy tissue (most always in sigmoid colon area), and pull through procedure to connect healthy tissue (usually no ostomy required) - As PCP, monitor diet and stool patterns for fecal continence; assess for enterocolitis, perianal abscess, prolapse, strictures, and fecal soiling Chronic Diarrhea - Persistent/prolonged diarrhea- begins as acute diarrhea and affects growth - Refer to Table 34-11 for common bacterial/viral causes, dx and mgmt. - Refer to Table 34-12 for common conditions broken down by age group - Important Hx and PE findings?? - Red Flags?? - What to order?? - Treat the underlying cause - Clinical Findings - 3 or more stools daily for more than 2 weeks; 10 watery or loose stools/day that contain undigested food particles think 'toddlers' diarrhea' - Red flags = anemia, wt loss, persistent fever, blood in stools - H & P - Diet/travel/illness/meds/exposures (daycare) - Does not improve with fasting - Hydration/wt/growth/VS/abdominal & rectal exams (as indicated) - Treatment - Treat the underlying cause - Chronic nonspecific (Toddlers') diarrhea- juice intake, normalize diet - Post-gastro malabsorption- infants can trial predigested formula (Pregestimil or Alimentum) - Refer to GI as needed Malabsorption - Lactose Intolerance - secondary to lactase enzyme deficiency - Gold standard for testing is lactose hydrogen breath test- no antibiotics at time of study - Trial of lactose-free diet for 2 weeks- symptom resolution??? - Bone density if calcium deficiency is suspected - Clinical Presentation (after ingestion of lactose) - Explosive watery diarrhea associated with abdominal distention - Flatulence - Recurrent, vague, crampy, abdominal pain - Diaper rash - Tx - Removal of milk products from diet - Lactaid with milk ingestion - Ensure adequate calcium and Vit D from other sources - CMPI/A- presents similarly to one another, but CMPI is a nonallergic hypersensitivity to the protein in cow's milk; CMPA is an mostly an IgE mediated atopic disease - If immediate and allergic reaction- respiratory, skin, and GI symptoms may occur - If late onset, symptoms are mainly GI and may include bloody stools, n/v/d, rash, ec - Elimination diet followed by double-blind placebo oral food challenge - Allergy skin patch testing - Serum IgE antibodies - Dx made when there is clinical improvement on CMP-free diet - FPIES- inflammation of small and large intestines, a delayed hypersensitivity reaction or non-IgE mediaterd GI food allergy - common triggers include cow's milk, soy, rice and oats, often a delayed dx - sx include severe vomiting, then diarrhea, then dehydration lethargy/pale/hypotension - Presentation... - FTT - Adequate intake per dietary hx - Severe or chronic diarrhea - Foul smelling, pale, steatorrhea stools - Abdominal distention / flatus - Delayed puberty - Testing... - Stool - Hemoccult r/o mucosal damage - O&P r/o Giardia - pH reducing substance r/o carbohydrate malabsorption - Fecal fat - Stool for pancreatic insufficiency - UA/cx - CBC, ESR, CRP, CMP, Iron, Folic Acid, Ferritin - Celiac - Sweat test - Hydrogen breath test - Summary - Common Presentations - FTT/Malnutrition - Abdominal distention - Diarrhea- chronic if lasts 2 or more weeks - Abnormal stool - Characteristics of stool (frequency, consistency, quantity, color, odor) - Pale, foul-smelling, bulky, greasy - Steatorrhea (fatty stools) - Bloody/dark, tarry Cleft Lip and Palate - Major clinical impact- requires surgical, dental, orthodontic, speech, hearing and psychological treatments/therapies. - Most common birth defect worldwide; males \> females - Varying degrees of cleft- unilateral or bilateral; involves soft and/or hard palate; a bifid uvula may indicate a submucosal cleft - Goals of treatment: - Promote optimum growth and function in speech, hearing, dental & psychosocial development - Achieve optimal aesthetic repair - Refer to craniofacial team- staged surgical repair individualized - Special feeding techniques- ST/OT Pierre-Robin Syndrome - Cleft palate - Glossoptosis -- tongue placed further back - Micrognathia - Concern is airway obstruction GU Hypertension - Higher prevalence in male, Hispanic, African-American - Assessment criteria - BMI, height, weight - BP - Edema - Pallor - Skin lesions - Flushing - Pulses - Enlarged thyroid gland - Abdominal mass - End-organ damage: retinal vascular changes, LVH - Primary (essential) - No identifiable cause - Multiple risk factors - Overweight/obese - ACEs - Prenatal and neonatal exposure - Increased sodium intake - Sedentary - Tobacco - Family history - High levels of stress - High cholesterol - Interaction of environmental factors and genetics - Typically asymptomatic - Secondary hypertension - Known underlying cause - Kidney disease - Endocrinological disease - Cardiovascular disease - Drugs - OSA - Symptoms related to underlying cause - Diagnosis is made when BP values on THREE separate visits are: - \= 95^th^ percentile for age, sex, height - \>= 130/80 - \>=13 y/o - \>= 130/80 - Diagnostic studies - Ambulatory BP monitoring (ABPM) - Serum Cr, BUN, lipid panel, CBC, ESR, CRP with lytes - UA & UDS - HbA1C, serum alanine transaminase - Kidney imaging - PSG - Echo - Ddx - Acute pain - Anxiety - CKD - CVD - Neuroblastoma - Tuberous sclerosis - Endocrine disease - OSA - Management plan - Screen annually starting at age 3 - Obtain thorough H&P - Dietary interventions, increase physical activity, avoid smoking/caffeine, stress management, adequate sleep, weight management - Referral to nephrology or cardiology - Pharmacological interventions - ACEis - First line - Contraindicated in pregnancy, angioedema - Monitor Cr, K - SE: dry cough, HA, dizziness - ARBs - First line - Contraindicated in pregnancy - Monitor CR, K - SE: HA, dizziness - CCBs - First-line - Appropriate for pt with kidney disease induced from ACEi/ARB - SE: flushing, dizziness - Thiazide diuretics - Second-line - SE: dizziness - Can cause metabolic complications, lyte imbalances - Beta-blockers - Not initial therapy - SE: impaired GT, weight gain, increased airway reactivity in asthmatics Chronic Kidney Disease - Acute Renal Failure (ARF) - Rapid loss of normal renal function - Define Azotemia: - The challenge is to identify the cause - Labs show increase in BUN & Cr - Elevated BUN but normal Cr = dehydration - Three main categories for differential - Prerenal - Most common form of ARF in children caused by hypoperfusion to kidneys for hypovolemia - Example is dehydration from vomiting & diarrhea, shock, post-op complications - Intrinsic - Due to damage of the renal parenchyma - Acute tubular necrosis from hypoxic or nephrotoxic injuries - Postrenal (less frequent) - Renal dysfunction caused by obstruction of urine flow in the urinary collecting system - Abrupt decline in glomerular filtration rate - Chronic Renal Failure (CRF) - Glomerulonephritis is the largest cause of CRF followed by congenital and other hereditary and cystic diseases - Ex. strep glomerulonephritis - Staging of CRF: ***Glomerular filtration rate (GFR)*** is most important test for determining kidney function - Cystatin C - ***GFR =* k*[(height cm])/serum creatinine*** - K is 0.33 for lbw infants\ 2+ -- evaluate for nephritis - Refer to nephrologist for persistent, unexplained proteinuria, hematuria, other symptoms - Patient and family education, prevention, and prognosis - Importance of follow-up