Inflammatory disorders of the intestine Flashcards
A few hour old neonate presents with non-bilious vomiting. There was ulceration of the umbilical cord. Radiology shows double bubble sign.
Duodena atresia, proximal to the ampulla of Vater
Genetic mutation associated with Hirschsprung disease
Loss of function of RET
Also EDNRB or EDN3
Syndrome associated with Hirschsprung disease in 10% of cases
Trisomy 21 –> Down syndrome
Immunohistochemical stain for this of ganglion cells used for confirmation of Hirschsprung disease
Acetyl-cholinesterase
Neonate has been unable to pass meconium. There is visible peristalsis, abdominal distention, and bilious vomiting.
Hirschsprung disease
Complications of Hirschsprung disease
Enterocolitis
Fluid and electrolyte disturbances
Perforation
Peritonitis
Common causes of malabsorption syndrome in US
Pancreatic insufficiency
Celiac disease
Crohn disease
Hallmark of malabsorption
Steatorrhea
Diarrhea type composed of isotonic stool that persists during fasting
Secretory diarrhea
Diarrhea type related to lactase deficiency that is improved by fasting
Osmotic diarrhea
Diarrhea type associated with steatorrhea that is relieved by fasting
Malabsorptive diarrhea
Diarrhea type associated with inflammatory disease, characterized by purulent, bloody stools that persists during fasting
Exudative diarrhea
Genetic defect associated with celiac disease
Class II HLA-DQ2 or HLA-DQ8 allele
Conditions associated with celiac disease
DM type I
Thyroiditis
Sjogren syndrome
IgA nephropathy
Part of gluten with most disease producing components of celiac
Gliadin
Sensitive marker of celiac disease, even in the absence of epithelial damage and villous atrophy
Intraepithelial lymphocytosis of CD8+ T cells
Microscopy findings in celiac disease
Crypt hyperplasia
Villous atrophy
Extraintestinal complaints associated with celiac disease
Arthritis
Aphthous stomatitis
Iron deficiency anemia
Delayed puberty
Short stature
Dermatitis herpetiformis
Silent celiac disease
Positive serology and villous atrophy without symptoms
Latent celiac disease
Positive serology without villous atrophy
Markers used for diagnosis of adult celiac disease
IgA anti-tissue transglutaminase
IgA anti-endomysial antibodies
IgG anti-tissue transglutaminase antibodies with IgA deficiency
Malignancies associated with celiac disease
Enteropathy associated T cell lymphoma
Small intestine adenocarcinoma
Intestinal syndrome associated with high oral vaccine failure rate
Environmental enteric dysfunction
Causal organism of Whipple disease
Trpheryma whipplei
Disease caused by accumulation of bacterial laden macrophages within the small intestinal lamina propria and mesenteric lymph nodes that causes lymphatic obstruction, leading to malabsorptive diarrhea.
Whipple disease
Shaggy mucosal surface of intestinal epithelium with white-yellow mucosal plaques
Whipple disease
Microscopy shows dense accumulation of distended foamy macrophages in the lamina propria of the small intestine with PAS positive and diastase resistant granules
Whipple disease
Extraintestinal symptoms of Whipple disease
Arthritis
Fever
Lymphadenopathy
Neurologic, cardiac, or pulmonary disease
Findings of stool in lactase deficiency
Decreased pH due to intestinal bacteria fermenting lactose
Increased stool osmolality
Inheritance of congenital lactase deficiency
Autosomal recessive
Inheritance of abetalipoproteinemia
Autosomal recessive
Rare disease marked by an inability to assemble triglyceride rich lipoproteins
Abetalipoproteinemia
Mutation associated with abetalipoproteinemia
Microsomal triglyceride transfer protein (MTP)
Blood smear shows acanthocytes. Microscopy shows triglyceride accumulation leading to epithelial vacuolization. Plasma is completely devoid of lipoproteins containing apolipoprotein B.
Abetalipoproteinemia
GI features of cystic fibrosis
Thick, viscous stools
Intestinal obstruction
Pancreatic intraductal concretions
Chronic pancreatitis
Exocrine pancreas deficiency (eventually)
Inheritance and mutation of familial form of autoimmune enteropathy
X-linked
Loss of function in FOXP3 gene
IPEX of familial autoimmune enteropathy
Immune dysregulation
Polyendocrinopathy
Enteropathy
X-linkage
Finding in autoimmune enteropathy not seen in celiac disease
Neutrophils infiltrating the intestinal mucosa
50 yo female presents with chornic, watery, non-bloody diarrhea without weight loss. Infection and celiac have been ruled out. Colon biopsy shows subepithelial collagen layer of normal thickness and increase in intraepithelial T lymphocytes.
Lymphocytic microscopic colitis
50 yo female, chronic smoker, presents with chronic, watery, non-bloody diarrhea without weight loss. Infection and celiac have been ruled out. Colon biopsy shows dense subepithelial layer and increased number of intraepithelial T lymphocytes.
Collagenous microscopic colitis
Rome IV criteria for IBS
Abdominal at least 1/wk for 3 mos
At least 2 symptoms related to defecation
Change in stool frequency and/or form
Strongest risk gene for IBD
Polymorphisms of NOD2
Mutation associated with very early onset IBD
Mutations in single genes required for epithelial ion transport, immune signaling, or host defense (eg IL-10 receptor)
Colonoscopy reveals diffuse continuous ulceration of the colon and rectum with filiform polyposis and mucosal bridges.
Ulcerative colitis
Colon biopsy shows crypt abscess, limited to mucosa, pseudopyloric metaplasia, Paneth cell metaplasia, and villiform mucosal architecture.
Ulcerative colitis
Chronic, relapsing condition characterized by attacks of bloody diarrhea with stringy mucoid material, lower abdominal pain, and tenesmus. Cramps are temporarily relieved by defecation.
Ulcerative colitis
Risk of this conditions is increased in UC
PSC
Colonic adenocarcinoma
Complication of UC
Toxic megacolon
Condition indicated by lead pipe sign on radiology
Toxic megacolon
Areas of the intestine commonly involved in Crohn’s disease
Terminal ileum
Ileocecal valve
Cecum
Gross appearance of edema and loss of normal mucosal folds in the intestines with serpentine ulcers. Cobblestone appearance and hypertrophy of muscularis propria.
Crohn’s disease
Intestinal biopsy shows distortion and disorganization of mucosal glands, bizarre branching shapes, transmural inflammation, cryptitis, crypt abscess, and ulceration.
Crohn’s disease
Abundant neutrophils infiltrate and damage crypt epithelium
Cryptitis
Microscopic hallmark of Crohn’s disease
Non-caseating granulomas
Pt has intermittent attacks of relatively mild diarrhea, fever, and abdominal pain that can be triggered by stress. They have several cutaneous nodules.
Crohn’s disease
Complications of Crohn’s disease
Fibrosing structure
Fistulae
Perforation and peritoneal abscess
Gallstones or renal stones
Radiology finding associated with Crohn’s disease
String sign
Most common cause of intestinal obstruction in children <2 yo
Intussusception
Most common intussusception type
Ileocolic
Infant presents with intermittent colicky abdominal pain every 10-20 minutes. There is palpable abdominal mass on examination. Parent reports red currant jelly stools and non-bilious emesis.
Intussusception
Closed loops through which other viscera slide and get entrapped, associated with adhesions
Fibrous bridges
Complications of diverticulosis
Perforation
Segmental diverticular disease associated colitis
Obstruction
Hemorrhage
Complications of appendicitis
Pylephlebitis
Portal V thrombosis
Liver abscess
Bacteremia and septicemia
Neurogenic failure, or loss of peristalsis in the intestine in the absence of any mechanical obstruction
Paralytic ileus
Pt presents with mild, diffuse, continuous abdominal pain and N/V. Bowel sounds are absent. Abdominal x-ray shows distended gas-filled loops of small and large intestine.
Paralytic ileus
