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FRACP 2023 Cram Homicrons Edition > Gastroenterology > Flashcards

Gastroenterology Flashcards

1
Q

UC management

A

Mild
(5ASA induction & maintainence)
Directly inflamed rectum: PR 5-ASA
Mild disease with pancolitis:
5-ASA PO

Moderate flare
Steroids

Severe flare
prednisolone +
- Immunomodulators: thioprine/azathioprine
- Biologics: infliximab, vedolizumab
- Consider colectomy

PUCAI >65 = severe flare
PUCAI 35-64 = moderate flare
PUCAI 10-34 = mild flare

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2
Q

Crohns management

A

Mild
- 5ASA
- EEN
- Steroids (short term)
- +/- antibiotics

Mod-severe
Induction:
- EEN
- IV methylpred
- Infliximab early use if severe/high risk for complicated disease (extensive SB, steroid unresponsive)

Maintainence:
- 5ASA
- Azathioprine: inhibit lymphocyte proliferation, but do not improve mucosal inflammation
- Methotrexate
- Infliximab

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3
Q

Symptoms of congenital chloride diarrhoea

A

AR chr7 gene
Defective Cl/HCO3 transport DI
- Polyhydramnios
- Watery diarrhoea at birth
- HypoK/cl, alkalosis
- Stools high K/Na
- Rx: IV fluid, slow reintroduction of PO fluids >1mo

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4
Q

Symptoms of glucose-galactose malabsorption?

A

> 30 mutations SGLT1, AR
Osmotic diarrhoea
- Diarrhoea, dehydration in neonatal period
- Follow ingestion of glucose, breast milk or traditional formulas
- Improves with removal of glucose/lactose/galactose
- +ve glucose breath test
Rx: fructose formula, lifelong glucose/galactose dietary restriction

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5
Q

Syndromes associated with Achalasia

A

Achalasia = lack of relaxation LES (RP >30mmHg), loss of peristalsis

Triple A syndrome
12q13 deletion
Achalasia
ACTH insensitivity- low BSL
Alacrima

Rozycki syndrome
AR
Deafness, short stature, muscle wasting, vitiligo

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6
Q

Intermittent dysphagia for solids + liquids, corkscrew pattern on barium swallow, Dx?

A

Diffuse Esophageal Spasm= Normal peristalsis interspersed with abnormal high pressure waves

Rx: CCB, nitrates, anticholinergics, surg- long myotomy
- no effective treatment

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7
Q

Mechanism of GERD, how is GERD defined?

A

Reflux plus one of
Histopathological changes of esophageal epithelial lining
Symptoms of reflux (eg. FTT, esophagitis, episodes of aspiration pneumonia)

Caused by transient relaxation of LES
Reduces LES pressure to 0-2 mm Hg lasting > 10 seconds
Regulated by vasovagal reflex, stimulated by – gastric distension

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8
Q

Indication for fundoplication in reflux?

A

Neurological disease
Not responding to medical therapy
Complications of esophagitis
Peptic strictures
Barrett’s esophagus
Gastrostomy feeds
Respiratory disease

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9
Q

Symptoms of GERD vs oesophagitis, definition of GERD?

A

Reflux plus one of
Histopathological changes of esophageal epithelial lining
Symptoms of reflux

GERD = vomiting/feed regurgitation, aspiration- cough/wheeze, OSA, FTT
Oesophagitis = irritability with feeds/back arching, feed refusal, LOW
- Chest pain/abdo pain in older children
- Sandifer syndrome: neck contortions/food refusal

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10
Q

Complications of reflux?

A

Eosophagitis/erosive oesophagitis- severe resporatory disease
Strictures - dysphagia
Barretts oesophagus (rare in children)- metaplastic transformation of squamous -> columnar epi
Aspiration pneumonitis/laryngitis
Interactions with asthma
Associated with BRUE

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11
Q

Dx eosinophilic oesophagitis & Rx?

A

> 15 Eo per HPF on Bx
Peripheral eosinophilia/raised IgE
SPT pos for allergen

Dysphagia in older kids, FTT, poor feeding/vomiting in younger

Rx:
Target elimination/6 food elimination diet (milk/wheat most common, then eggs/nuts/seafood)
PPI 40-50% effective
Topical fluticasone/budesonide
Anti IL5 (mepolizumab/relixumab)

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12
Q

Age range for FB ingestion, most common site of lodging?

A

Majority (80%) of FB occur in children 6 month to 3 years

Most lodge at the level of the cricopharyngeus (UES), the aortic arch, or just superior to the gastroesophageal junction (LES)

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13
Q

FBs requiring removal vs watch & wait

A

Sharp objects (above duodenum), disc button batteries or those associated with respiratory symptoms 🡪 urgent ETT and endoscopy

Asymptomatic blunt objects and coins can be observed for 24 hours to see if they passage into the stomach
Meat impactions can be observed for 12 hours

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14
Q

Mx caustic ingestion?

A

If asymptomatic – observe, trial of oral intake at 4 hours after exposure, earlier if low suspicion or likely benign ingestion after discussion with Poisons Information Centre

If any symptoms admit for oesophagoscopy (within 24 hours)

Keep NBM
Commence intravenous PPI
Can try milk/water dilution

Neutralization, induced emesis and gastric lavage are contraindicated
Strictures may require dilatation

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15
Q

Dx globus?

A

Persistent/intermittent sensation of lump in throat
- between meals
- no dysphagia, odynophagia, GERD symptoms, other more likely Dx
- >3mo of above criteria, sx >6mo

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16
Q

Features of Zollinger Ellison

A

Rare neuroendocrine tumor
Refractory PUD + diarrrhoea
Autonomous gastrin secretion
98% elevated gastrin levels
Assoc: MEN1, NF, TS

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17
Q

Tests for active H.Pylori infection?

A

H pylori stool antigen
Urea breath test (false neg due to PPI)
Endoscopy (invasive)

50% FP on serology with active infection

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17
Q

Tests for active H.Pylori infection?

A

H pylori stool antigen
Urea breath test (false neg due to PPI)
Endoscopy (invasive)

50% FP on serology with active infection

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18
Q

Indications for H.Pylori Rx?

A

Children with ulcers + proven infection
Children with histologically proven infection w/ gastro symptoms
Children with gastric lymphoma + proven infection
Children with atrophic gastritis w/ intestinal metaplasia + proven infection
Children with refractory IDA + proven infection

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19
Q

Causes of gastroparesis & Mx?

A

Gastric dysrhythmia and gastroparesis:
Severe gastric myoelectrical disorder
Rx – N+V, prokinetic therapy, gastro/jejunostomy, TPN ,
gastric electrical stimulation, pacemaker

Normal gastric rhythm and gastroparesis
Due to pylorospasm/ obstruction at pylorus/ duodenum with electrocontractile dissociation
Rx – botox/ balloon dilatation, surgical relief of obstruction, prokinetics and antinausea

Gastric dysrhythmia and normal emptying
Gastric myoelectric disorder
Rx – N+V, prokinetic therapy

Normal gastric rhythm and normal emptying
Visceral hypersensitivity/ nongastric causes
Rx – N+V, antidepressant therapy, drugs for fundic/ antral relaxation. Further Ix for other causes

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20
Q

Severe watery diarrhoea at birth , FTT +/- dysmorphic features

A

Congenital malabsorption syndromes
Mucosal
- Microvillous inclusion disease: most severe- +/- polyhydramnios, microvilli with involutions on Bx
- Tufting enteropathy - epithelial tufts involving 90% on Bx
- Enteric anendocrinosis: NEUROG3 gene- hyperchloraemic acidosis, absence of neuroendocrine cells

(all need lifelong PN/transplant)

Proprotein convertase 1/3 deficiency- PCSK1 gene, AR, watery diarrhoea, hyperinsulinism, hypogonadism/adrenalism

CHO deficient glycoprotein syndrome/enterocyte heparan sulfate def
- Genetic disorder of N-glycan assembly

Trichohepenteric syndrome: villous atrophy, trichorrhexis, dysmorphic- broad forehead/hypertelorism, cafe au lait, cardiac/liver Dx, defective Ab responses, poor prog 2-5 yrs

Autoimmune enteropathy = Sx AFTER 6mo age, introduction of diet/cease breastfeeding- villous atrophy/crypt hyperplasia, anti-enterocyte ABs, other autoimmune Dx, no response to elimination diets
eg. IPEX = chronic diarrhoea, dermatitis, autoimmune endocrinopathy (diabetes, thyroiditis)
APS1

Bile acid malabsorption (SCL10A2 mutation)- steatorrhoea, reduced chol, reduced bile acid reabs

Abetalipoproteinemia
- Defect in chylomicron formation
- Steatorrhoea, ADEK def- PN/ ataxia/retinitis
- Low chol, trigs, LDL
- Acanthocytes and fat inclusions on smear
- Homozygous hypobetalipoproteinemia- AD, Dx on Bx

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21
Q

Predisposing factors for SIBO?

A

Dysmotility – short bowel syndrome (due to adaptive changes in SI), pseudo-obstruction, malnutrition
Biliary obstruction – cirrhosis
Pancreatic insufficiency – chronic pancreatitis
Absent ileocaecal valve / communication – intestinal fistula, bowel strictures, short bowl
Other – diabetes, prematurity

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22
Q

Syndromic causes of pancreatic insufficiency?

A

Cystic fibrosis – most common congenital disorder associated with exocrine pancreatic deficiency
Shwachman-Diamond syndrome – second most common congenital disorder
Rare disorders – Johanson-Blizzard syndrome (severe steatorrhoea, aplasia of alae nais, deafness, hypothyroidism, scalp defects(, Pearson bone marrow syndrome (sideroblastic anaemia, variable neutropenia, thrombocytopaenia), and isolated pancreatic enzyme deficiency
Autoimmune polyendocrinopathy syndrome type 1 – rare autosomal recessive disorder caused by a mutation in AIRE
Chronic mucocutaneous candidiasis is associated with failure of the parathyroid gland, adrenal cortex, pancreatic beta cells, gonads, gastric parietal cells and thyroid gland
Pancreatic insufficiency and steatorrhoea are common

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23
Q

Signs of congenital lactase deficiency?

A

AR condition

Features
Diarrhoea from birth
Hypercalcaemia and nephrocalcinosis
Clinical symptoms occur 30mins to 2 hours after consumption
Abdominal pain, bloating, flatulence, diarrhea & vomiting

Dx: Lactose intolerance test/breath test
Acidic stool pH <7.5 & positive reducing substances >0.25% suggestive

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24
Cause of hepatic cholestasis and cirrhosis w short bowel sx on PN?
Hepatic cholestasis and cirrhosis – causes multifactorial: Toxic defects of TPN on hepatocytes Disruption of bile flow and bile acid metabolism Frequent occurrence of bacterial translocation and sepsis with endotoxin release in portal circulation
25
Allograft rejection rates in intestinal transplant?
Acute rejection rates for intestinal allograft are significantly higher than with any other organ – range of 80 to 90% Severe rejection may require treatment of anti-lymphocyte antibody rejection; as high as 30% Vascular rejection uncommon, chronic rejection 15% GVHD is infrequent but life threatening (80% mortality)
26
What findings on blood tests indicate what malabsorption?
Stool tests Microscopy/Culture 🡪 RBC/WBC associated with inflammatory conditions Microscopy for ova/cysts/parasites 🡪 Giardia Antibody tests for parasites pH and reducing substrates 🡪 CHO malabsorption Quantitative stool fat 🡪 identify fat malabsorption Alpha-1 antitrypsin 🡪 protein malabsorption Elastase 🡪 exocrine pancreatic insufficiency Calprotectin 🡪 IBD Blood tests FBE + film Microcytic anaemia 🡪 Fe deficiency Lymphopenia 🡪 Lymphangiectasia Neutropenia 🡪 Shwachman syndrome Acanthocytosis 🡪 Abetalipoproteinaemia Serum IgA and tTG antibodies 🡪 celiac disease
27
What criteria do children have to meet for Dx coeliac without biopsy?
Characteristic symptoms of coeliac disease tTG-IgA levels >10× upper limit of normal A positive endomysial antibody (EMA) on a different blood sample Positive HLA susceptibility for coeliac disease
28
Coeliac disease patients are at risk of which cancers?
20X RR for small bowel lymphoma (EATL) 30x RR for small bowel adenocarcinoma (uncommon generally, one of few conditions which causes) 2-4X RR for esophageal cancer
29
Epidemiology of IBD? Which is more common in paediatrics, what is the trend in prevalence?
0.5-8/100,000 Higher incidence of CD vs. UC in paediatrics Incidence of paediatric IBD (and IBD in general) has been increasing over the last 30-40 years (15x CD, 11x UC) Theories for increase - Increased awareness - Westernisation, hygiene hypothesis - Change in microbiota/decreased helminth infections Evidence between IBD and residence in or immigration to industrialized nations, Western diet, use of antibiotics at a younger age, vaccination, less exposure to microbes at a young age
30
Genes associated with IBD?
First IBD gene identified NOD2 (CARD15) – identified in 2001 - Genetic influence higher in CD than UC - Concordance rates in twins is higher in CD (35-50%) than in UC (16%)
31
Pathology findings suggestive of IBD?
FBE- anemia & thrombocytosis Raised ESR/CRP Hypoalbuminemia (malabsorption) Raised ALT/GGT Raised stool calprotectin May have +ve ABs- CD- ASCA, UC- pANCA- low sensitivity
32
Causes of VEOIBD and Hx suggestive?
Onset <6 Immunodeficiencies: IL-10 mutation, atypical SCID, CVID, CGD, neutrophil defects, Wiskott-Aldrich syndrome, agammaglobulinaemia, hypergammaglobulinemia M syndrome, familial HLH, IPEX Hx suggestive: young age, FHx immunodeficiency/IBD- males/consanguinous, recurrent infections, resistance to conventional IBD therapies, skin/nail/hair lesions, tumors, HLH
33
Relationship of growth to IBD? What is the most sensitive parameter to monitor?
High rates growth failure with CD 60-85%, UC 6-12% Height velocity is most sensitive parameter to recognize impaired linear growth Decreased growth velocity may precede abdo Sx 50% of patients - exacerbated by steroids
34
Most common congenital GI anomaly?
Meckels diverticulum 2-3% of infants, appears as a 3-6cm outpouching of the ileum
34
Most common congenital GI anomaly?
Meckels diverticulum 2-3% of infants, appears as a 3-6cm outpouching of the ileum
35
Embryology/pathogenesis of Meckels & rule of 2s?
Diverticulum = remnant of the embryonic yolk-sac connection to the gut (vitelline or omphalomesenteric duct), produced by failure of involution during gestation Rule of 2s: - 2% population - First 2 yrs of life - M:F 2:1 (very few female predominant GI conditions!) - 2ft of ileocecal valve - 2inches length
36
Most common GI tumor?
Juvenile colonic polyp 1-3% of population <21ys Peak 2-10yrs Usually rectosigmoid region, solitary common Bright red painless bleeding post defecation +/- prolapse of polyp
37
Histopathology post rotavirus infection?
Jejunal and duodenal mucosa- shortening and blunting of the villi, WBC infiltrate Invades SI villi and leads to: - loss of enzymes - decreased absorption - villous atrophy - secretory/osmotic diarrhoea
38
Pathology on this scope?
Ulcerative colitis - Mucosal ulcertion, erythema, granularity/friability Histo: mucosal inflamm, crypt abscesses/inflammatory infiltrate, mucous depletion
39
Findings in Transcobalamin II deficiency?
Inhereted defect in transport protein of B12 (takes from GI/liver to storage sites) Sx: severe megaloblastic anemia, FTT, neurological sx, glossitis, diarrhoea, vomiting Normal serum B12 as TC1,2 proteins intact, transport protein defective
40
Biopsy findings for Alagile Biliary atresia PFIC NASH/NAFLD Crigler Najjar
Alagile- paucity of interlobular bile ducts Biliary atresia- biliary fibrosis/duct proliferation with bile duct plugs PFIC- cannalicular cholestasis (1), + fibrosis/giant cells, decreased BSEP Abs (2) NASH: Steatosis/ballooning degeneration/pericellular fibrosis NAFLD: Steatosis and inflammation, no fibrosis Crigler Najjar: Normal structures +/- bile plugs, decreased UDP-glucuronosyltransferase level on tissue enzyme assay of liver tissue
40
Biopsy findings for Alagile Biliary atresia PFIC NASH/NAFLD Crigler Najjar
Alagile- paucity of interlobular bile ducts Biliary atresia- biliary fibrosis/duct proliferation with bile duct plugs PFIC- cannalicular cholestasis (1), + fibrosis/giant cells, decreased BSEP Abs (2) NASH: Steatosis/ballooning degeneration/pericellular fibrosis NAFLD: Steatosis and inflammation, no fibrosis Crigler Najjar: Normal structures +/- bile plugs, decreased UDP-glucuronosyltransferase level on liver tissue enzyme assay
41
Diagnosis? Associated disease & Rx?
Pyoderma gangrenosum UC (5%) > Crohns (2%)
42
Liver complications of ARPKD
PKHD1 gene Initially hepatic fibrosis (fibrocystin accumulates in bile duct cells) Hepatomegaly & portal hypertension develop over time Later = Caroli disease (multifocal, segmental dilatation of large intrahepatic bile ducts)- RUQ pain, cholelithiasis/ cholangitis
43
Normal stool pattern in children
Breastfed babies- 10x per day - 1x every 10d 12mo 2-3 stools per day 2-3 - 1-2per day
44
Absorption of water/solutes from large intestine
Na+ coupled transport: glucose, galactose, AAs/oligopeptides (Na+ pumped out of cell, osmotic gradient between cells- water follows) Na/H+ exchange- electrolytes Paracellular transport- passive, via tight junctions
45
Stool sodium in secretory diarrhoea
Secretory diarrhoea (enterotoxin e.g. cholera, E. coli, Salmonella, Shigella, pancreatic islet cell tumour, cathartics) result in liquid faeces with high sodium levels, usually 55-100mmol/L
46
Patho/Sx of Gilberts Disease?
Common disorder of bili metabolism 5-15% - AR defect in TATAA promoter sequence - Leads to deficiency in diphosphogluconate-glucuronyltransferase 1A1 (conjugates bili) - Unconjugated hyperbili - Triggered by fasting/dehy/illness
47
Most common extra-intestinal manifestations of UC?
Arthritis 21% Stomatitis/PSC 4% Uveitis 4% EN 3% Ank spond/PG 2% Psoriasis 1%
48
IBD extraintestinal manifestations and genes assoc?
49
Raised Cytokeratin 18- disease marker of?
Chronic liver disease - Cleaved during cell death & released into blood
50
Causes of elevated ALP?
51
Dx this rash
Pellagra (isn't niace) - Niacin deficiency (B3) 3 D's of B3 - dermatitis, diarrhoea, dementia
52
Dx this rash
Acrodermatitis enteropathica - AR GI defect in zinc absorption - Presents later than acquired - Breast mild protective Acquired - Prem, low maternal BM zinc, malabsorption Check ALT, breask milk, zinc not a good measure of levels Rx: elemental zinc
53
Effects of heat, strenuous exercise, reduced salt intake in CF patient?
Hypochloraemic, hyponatraemic dehydration, metabolic alkalosis and hypokalaemia. Sodium/Chloride depletion = ECF volume contraction - increased aldosterone = sodium exchanged for H + ions in kidney = alkalosis
54
Conditions associated with increased risk of coeliac disease?
Family history, Down syndrome, Turner syndrome, IgA deficiency, T1DM, autoimmune thyroid disease and dermatitis herpetiformis.
55
Management of NASH
Lifestyle changes Meds: - Statins - Metformin, SGLT2/GLP1 inhibitors, thiazolidinediones - Vitsamin E, omega 3 FAs - PPAR agonist - Caspase inhibitors
56
H.Pylori linked to what GI cancer?
H. pylori have an increased risk of gastric mucosa-associated lymphoid tissue (MALT) lymphoma, a rare cancer of the stomach
57
Ix findings in hereditary haemochromatosis
Fe studies (Fe saturation > 55%, ferritin > 200-300) Genetic testing for C282Y and H63D mutations
58
Positive ABs to ANA, ASMA, anti-actin +/- ANCA
Type 1 autoimmune hepatitis
59
Positive ABs to Anti-LKM-1, anti-liver cytosol
Autoimmune hepatitis type 2
60
Elevated serum IgM and cholesterol, ALP rise, Anti-mitochondrial Ab +ve
PBC - Anti-mitochondrial Ab 95% sensitive, 98% specific
61
Effects of chronic cholestasis
Fat soluble vitamin deficiency (ADEK) - Progressive areflexia, cerebellar ataxia, ophthalmoplegia, and decreased vibratory sensation - Lesions found in the CNS, peripheral nerves and muscles
62
Broad forehead, hepatomegaly, hypotonia and impaired neuro function with psychomotor retardation. Liver cells on Bx show absence of peroxisomes
Zellweger (cerebrohepatorenal syndrome) - AR - Fatal by 6-12mo
63
Intrahepatic cholestasis associated with lymphoedema of the lower extremities, intermittently elevated ALT/AST. Asymptomatic in between episodes
Aagenaes syndrome - 50% normal life span
64
Jaundiced child with cholestasis, Low GGT, steatorrhoea, pruritis & Vit D deficient Ricketts - mutation F1C1 on 18q21
PFIC1 - Severe form of intra-hepatic cholestasis - Bile transporter disease
65
Middle eastern child with cholestasis, worsening LFTs, low GGT, BSEP gene positive
PFIC 2 - Bile transporter disease
66
Teenager with conjugated hyperbilirubinemia - HIGH GGT, portal HTN, gall stones & MDR3 gene mutation
PFIC 3 - Bile transporter disease
67
Jaundiced child with new Dx HCC- normal GGT, conjugated hyperbilirubinemia- TJP2 gene positive
PFIC 4 - Bile transporter disease
68
Asymptomatic/well child with conjugated hyperbilirubinemia- MRP2 gene found
Dubin-Johnson - Bile transporter disease
69
Bx findings for Alagille syndrome
Bile duct paucity
70
Eye abnormalities in Alagille syndrome
Posterior embryotoxon Other = microcornea, optic disc drusen, shallow anterior chamber
71
CV abnormalities in Alagille syndrome
Peripheral pulmonic stenosis Other = Tetralogy of Fallot, pulmonary atresia, VSD, ASD, aortic coarctation
72
Rx Alagille syndrome
MDT management Ursodeoxycholic acid Other medications for pruritis – cholestyramine, rifampicin
73
Distinguish between biliary atresia and neonatal hepatitis
Neonatal hepatitis - FHx incidence 20% - More common in SGA/prem - Likely to have intermittent pigmented/acholic stools - Bilious fluid duodenal intubation Biliary atresia - Sporadic - Persistent acholic stools - Abnormal size/consistency of liver in BA - May also have other abnormalities- heterotaxia, malrotation, vascular malformation
74
Bx shows bile ductular proliferation, the presence of bile plugs, and portal or perilobular edema and fibrosis, with the basic hepatic lobular architecture intact What condition?
Biliary atresia
75
Bx shows severe, diffuse hepatocellular disease, with distortion of the lobular architecture, marked infiltration with inflammatory cells, + focal hepatocellular necrosis; the bile ductules unchanged What condition?
Neonatal hepatitis
76
Bx shows PAS positive diastase resistant granules What condition?
A1AT
77
Ix findings in biliary atresia
Conjugated hyperbilirubinemia Triangular cord sign on USS Failure of tracer excretion on HIDA scan Bile duct proliferation- plugs & fibrosis on Bx
78
Best outcome for timing of surgery in BA?
Kasai <30 days of age has BEST outcome Success rate for establishing good flow is much higher (90%) if performed before the 8th week of life Will require liver Tx if failing Kasai
79
Conditions with decreased BUGT and proportion
Crigler Najar <20% - Type 1 = complete (AR) - Type 2 = partial (AR) Gilberts- 5-50%
80
Treatment for Crigler Najar
Risk = kernicterus Phototherapy Exchange transfusion Oral calcium phosphate supplementation = phototherapy more effective as it forms complexes with bilirubin in the gut Phenobarbital therapy (CYP450 enzyme induction) Cholestyramine + agar Orlistat (irreversible inhibitor of intestinal lipase) increases faecal fat excretion and decreases plasma unconjugated bilirubin concentration Transplant
81
How to determine difference between CN1/CN2
Phenobarbital therapy (CYP450 enzyme induction) = can be considered to determine responsiveness and differentiate between type I and II 🡪 NO response in type I
82
Differentiating Dubin Johnson & Rotor (both bilirubin uptake transport disorders)- Rotor = SLCO1B1/3 gene
Normal GB & liver total urinary coproporphyrin excretion is elevated, with relative increase in the amount of coproporphyrin I isomer
83
Enzyme deficiency in galactosemia
Galactose-1-phosphate uridyl transferase (GALT) deficiency - Classic galactosaemia (most common/severe) Galactokinase (GALK) deficiency Uridine diphosphate (UDP) galactose-4-epimerase (GALE) deficiency
84
Infant with mixed hyperbilirubinemia after introduction of feeds, e.coli sepsis, hepatomegaly and poor growth.
Galactosemia
85
Ix findings in galactosemia
Increased plasma glucose/RBC galactose 1P Signs of liver dysfunction - Mixed hyperbilirubinemia - Elevated AST/ALT - Coagulopathy - Reducing substances + evidence of proximal RTA in urine Rx elimination of galactose from diet
86
Sx of tyrosinemia
Deficiency of fumarylacetoacetate hydrolase Results in buildup of FAA causing oxidative cell damage Progressive liver disease- cholestasis, coagulopathy & RTA Increased succinylacetone in urine Increased blood tyrosine concentration
87
Ingestion, transport of copper
2-5mg absorbed in duodenum 40-60% Transported via caeruloplasmin in liver Excreted via bile Total 50-150mg
88
Features of wilsons disease
Asymptomatic hepatomegaly +/- hepatitis/liver failure- cryptogenic cirrhosis Tremor/dysarthria/Parkinsonism Personality change, psychosis Haemolytic anemia
89
Ix findings for wilsons disease
Low ceruloplasmin High urinary copper +/- serum KF rings Liver Bx shows accumulation of copper
90
Ix findings for wilsons disease
Low ceruloplasmin High urinary copper +/- serum KF rings Liver Bx shows accumulation of copper
91
Rx Wilsons disease
Dietary restriction- fish, nuts, chocolate Meds: - Penicillamine (10-15% can have worsening neuro Sx) - Triethylene tetramine dihydrochloride (Trientine) - Ammonium tetrhiomolybdate - Zinc- impairs Cu uptake in gut Liver transplant
92
Genetic findings for patient with A1AT with liver disease (no other risk factors)
Patients with liver disease usually PiZZ homozygotes and have alpha1 antitrypsin levels <10-20% of normal (<2 mg/ml) - Polymers accumulate in liver and cause disease - Children do not usually develop emphysema but are at increased risk for asthma
93
What does citrin deficiency cause?
Intrahepatic cholestasis - identified from newborn metabolic screen with hypergalactosaemia, hypermethioninemia, and hyperphenylalanaemia - More prevalent in East Asian
94
Cause of neonatal haemachromatosis
Alloimmune disorder with maternal antibodies directed against the fetal liver - High rate of familial recurrence - IgG maternal activates MAC complex
95
Dx neonatal haemachromatosis
High ferritin >2-3000 Liver Bx immuno-staining with anti-human C5b-9 complex Buccal/parotic Bx shows mucosal glands laden with iron
96
Sx neonatal haemachromotosis
Severe liver failure including coagulopathy, ascites, hypoalbuminaemia, mixed hyperbilirubinaemia and cirrhosis Rapid progression to multi-organ failure and death
97
Rx neonatal haemachromotosis
Iron chelating agents Exchange transfusion Poor prognosis 90% recurrence rate in future pregnancies
98
Most common bugs implicated in liver abscess, most common type?
Bacterial = Staphylococcus aureus, Streptococcus, E coli, Klebsiella pneumoniae, Salmonella Amoebic disease = Entamoeba histolytica Solitary 70%
99
Transmission for Hep A/E
Faecal-oral route
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Transmission for Hep B,C,D
Parenteral, intrapartum, sexual
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Stages/presentations of of hep A
- Prodromal- viremia, non specific symptoms - Icteric 1-2wks post - Initial improvement then relapse- 6-10wks - Cholestatic - Fulminant 1-5% Can get arthritis, vasculitis, myocarditis, AKI
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Most common viral hepatitis?
Hep A
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Rx Hep A
Vaccine/ IG (unvaccinated with exp <2wks) Cholestyramine for pruritis
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Rx Hep A
Vaccine/ IG (unvaccinated with exp <2wks) Cholestyramine for pruritis
105
Phases of Hep B virus
Immune tolerant- high HBV-DNA >20,000 & HbeAG, normal ALT/AST (most children for mo-yrs) Immune clearance- falling HBV-DNA, HbeAg+ve, ALT/AST high (immune mediated liver injury) Immune control- low HBV DNA, HBeAg-ve, anti Hbe +ve. ALT/AST normal Immune escape- elevated HBV-DNA >2,000 (virus mutates), ALT/AST high, Hbe-ve, increasing liver fibrosis
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Rx Hep B
Pegylated interferon Weekly S/C injection for 48 weeks - SFx: myalgia, lethargy, cytopenias NRTI: entecavir + tenofovir
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Cx Hep B
Fulminant liver failure- 1/3rd children Cirrhosis 20% (RFs: age, co-infection (hep C, A, HIV), high levels of HBV DNA, alcohol intake ) HCC- 1/3rd children Hep B associated GN
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How common is intrapartum transmission Hep C?
<5% More commonly perinatal - 20% will clear - 30% chronic active - 50% chronic asymptomatic More common than Hep B
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Relevance of IL-8 /IL28B genotype in HCV
IL-8 genotype = may suggest response to therapy (NEW TEST)
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Rx Hep C
PEG IFN Ribavirin New drugs ** Nucleotide analogue + NS5B inhibitor: Sofosbuvir plus velpatasvir and glecaprevir plus pibrentasvir
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Cx Hep C
5-10% cirrhosis + hepatoma Rheum- Sjogrens, myalgia, arthritis Porphyria/lichen planus Cryoglobulinemia MPGN Keratoconjunctivitis, Mooren ulcer
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Causes of liver failure
Viral - Hep B, C if co-infection Autoimmune 5% HLH 40-50% idiopathic Metabolic diseases (wilsons, galactosemia, FFAO defects, haemachromatosis, fructose intolerance, lysosomal) Meds- Vascular- Budd-Chiari, stroke, cardiomyopathy, ischaemia
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Diseases that are a contraindication to liver Tx
Mitochondrial disorders Niemann-Pick C HPS (HLH) Leukaemia 4%
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How to treat high ammonia in liver failure
Protein restriction Sodium benzoate Gut purging with enemas/lactulose Rifaximin or neomycin – can reduce enteric bacteria responsible for ammonia
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What is quad H therapy and how does it improve cerebral oedema in hepatic encephalopathy?
Hyperventilation – lower PaCO2 Hypernatraemia aim 148-152, fluid restriction n2/3 maintenance Hypothermia Haemofiltration – to reduce ammonia
116
Most common cause of death in hepatic failure?
brainstem herniation (commonest cause of death)
117
What veins form portal vein?
Splenic vein & SMA - 2/3rds of hepatic blood flow - <50% of total liver O2 supply
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Rx portal HTN
Meds: Fluid resus- crystalloids, blood Octreotide/somatostatin analogues Vasopressin - splanchnic vasoconstriction GTN Surgical - endoscopic variceal sclerosis - Sengstaken-Blackmore tube - Portocaval shunt (risk of thrombosis)- preferred in patients with good liver function - Rex shunt - Transjugular IH shunt - Liver Tx
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Indications for liver Tx
Obstructive disease - Biliary atresia failing Kasai, PSC Metabolic - Alagile, PFIC, neonatal hepatitis - A1AT, tyrosenemia, GSD, Wilsons, haemachromatosis, urea cycle defects Hepatitis Liver tumors GVHD/haemophilia
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Complications of liver transplant
Thrombosis- hepatic artery (freq/early), portal vein (5-10%, later, with BA) Bile - Strictures most common 10-30% - Leak also common Rejection - first 2wks 20-50%, requires Bx confirmation, Banff severity classification - Chronic less common 5-10%
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Diseases that recur post liver Tx
Hepatitis B + C viral infection Primary biliary cirrhosis/sclerosing cholangitis Autoimmune hepatitis NAFLD/Alcohol associated liver disease Haemochromatosis Hepatocellular carcinoma
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Diseases that do not recur post liver Tx
Congenital anatomical anomalies -Biliary atresia -Polycystic liver -Caroli disease -Alagille syndrome -Congenital hepatic fibrosis Metabolic disease -Wilsons disease -Alpha-1 antitrypsin deficiency
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Infant presents with cholestatic jaundice, severe liver dysfunction including ascites and coagulopathy, +/- mass Dx?
Choledochal cyst - USS/MRCP diagnostic - Rx roux-en-y choledochojejunostomy (prevents risk of cholangiocarcinoma)
124
What is caroli disease/caroli syndrome
Caroli disease = bile ductal ectasia without other hepatic abnormalities Caroli syndrome = bile duct dilatation associated with congenital hepatic fibrosis - AR - Choledochal cysts also often common - Associated with ARPKD - Can lead to cholangitis/sepsis/cirrhosis
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Associations PKD & liver disease
ARPKD - Hepatic fibrosis & bile duct ectasia - Presenting Sx in 25% ADPKD - Dilated non-communicating liver cysts 50% - Increase in size with age Caroli Disease Congenital hepatic fibrosis
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Features of ascending cholangitis & Rx
Charcot’s triad of RUQ pain, fever and jaundice – 50-75% Reynold’s pentad – RUQ pain, fever, jaundice, hypotension & confusion Rx taz/cef & met ERCP + stent Cholecystectomy
127
CCK-diisoproyl iminodiacetic acid scan demonstrating GB ejection fraction of <35% - Dx?
Biliary dyskinesia
128
Most common cause of cholecystitis in children
Acalculous > calculous - Strep/GN/parasites - Post trauma
129
Conditions predisposing to cholelithiasis?
biliary dyskinesia, chronic haemolytic disease, ileal resection or disease, CF, cirrhosis, cholestasis, Crohn’s, obesity, prolonged TPN, prematurity, prolonged fasting, treatment of childhood cancer, abdo surgery pregnancy, sepsis
130
Phases of liver drug processing
Phase 1: Activation Enzymatic activation of substrate to reactive intermediates - CYP system Phase 2: Conjugation Conjugation with glucuronic acid, sulfate, acetate, glycine, glutathione - Can be overwhelmed if too much toxic metabolite Phase 3: Excretion Excretion of drug metabolites by transporters – eg multiple drug resistant protein 1 (MDR-1)
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CYP inducers/inhibitors
Inducers: phenytoin, phenobarbital, rifampin, CBZ, St Johns Wort, glucocorticooids, HIV antivirals Inhibitors: erythromycin/clarithromycin, cimetidine, zoles, antivirals (protease inhibitors), grape juice, ciclosporin, amiodarone, sertraline
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Relationship UC/PSC
2-8% of patients of UC Of those with PSC, 70-90% have UC
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pANCA or anti—SMA antibodies +ve- what complication of IBD?
PSC
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Associations with PSC and malignancy?
Strongly associated with hepatobiliary malignancies = cholangiocarcinoma, HCC, gall bladder carcinoma Incidence of 9-14%
135
What condition is Focal biliary cirrhosis pathognomic for?
CF Risk factors = male gender, increasing age, pancreatic insufficiency, possible meconium ileus
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Causes of MASSIVE hepatomegaly
Malaria Leishmaniasis Myelofibrosis CML/CLL Gauchers
137
Tryptase activity in stool?
Excludes exocrine pancratic disease
138
Severe diarrhoea, dehydration and metabolic acidosis in breast fed baby. Renal stones seen on abdo US?
Glucose-galactose malabsorption (AR)
139
6mo baby with severe vomiting, hypoglycemia. Jaundice & hepatomegaly on exam. Noted to have high uric acid on bloods. Recently introduced solids (fruit puree)
Hereditray fructose intolerance - deficiency of fructose-1,6-bisphosphate aldolase in liver, kidney and intestine - rapid accumulation of fructose-1-phosphate & toxicity
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6mo infant, poor feeding, watery diarrhoea, bloating & poor growth. Formula fed, introducing solids. Stool negative for reducing substances/H+ breath test positive.
Sucrase-isomaltase deficiency (AR) - Disaccharide deficiency (lack sucrase/isomaltase, have lactase & maltase)
141
Severe watery diarrhoea in infant either breast feeding or formula fed. RTA/amino-aciduria, reducing substance +ve in stool. Worse in infancy/older childhood
Primary lactose intolerance (rare) - congenital (no lactase) - familial (reduced lactase)
142
NASH biopsy findings?
Non-alcoholic steatohepatitis biopsy shows: Steatosis with ballooning degeneration, mallory hyaline, lobular inflammation or pericellular fibrosis. NASH is worse than NAFLD = NASH = smashed
143
NAFLD biopsy findings?
Non-alcoholic fatty liver disease biopsy shows: Moderate steatosis with mild inflammation but without ballooning injury or fibrosis NAFLD = baffled
144
PFIC biopsy findings?
PFIC 1 biopsy shows: Cannalicular cholestasis. PFIC 2 biopsy shows: Cannalicular cholestasis with fibrosis and giant cell hepatitis. Absent or decreased expression of BSEP (bile salt export pump) antibodies on immunohistochemistry staining.
145
Crigler Najar biopsy shows?
Crigler Najjar biopsy shows: Occasional bile plus within cannaliculi following cholestasis. Otherwise normal. Decreased (or absent) UDP-glucuronosyltransferase level on tissue enzyme assay of liver tissue.
146
What hormone does this cell secrete? MOA of that hormone? D cell
Somatostatin - Inhibits acid secretion
147
What hormone does this cell secrete? MOA of that hormone? Chief cell
Pepsinogen Pepsin (active form) = proteolytic
148
What hormone does this cell secrete? MOA of that hormone? G cell
Gastrin
149
Symptoms of excess vitamin A?
N&V Raised ICP & cerebral oedema Headache Irritability, drowsiness, skin peeling/discolouration if chronic

FRACP 2023 Cram Homicrons Edition (29 decks)

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