Gastroenterology Flashcards
Describe Hepatitis A
RNA virus, spread via faecal-oral or shellfish, endemic in Africa and south america, management in supportive as infection usually self-limiting and chronicity does not occur. immunisation available. May rarely progress to fulminant hepatitis.
Describe Hepatitis B, tests, and management, and complications.
DNA virus, spread through blood products, IVDU, Sexual, endemic in far east, africa and Mediterranean. passive immunisation available. Chronic infection in 5% of immuno competent more common in compromised or children.
Tests: PCR Viral Load, LFTs, HIV + Hep D (increased risk of HCC progression) Antibodies screen (HBsAg following exposure, persistant denotes carrier status, HBeAg following acute illness. Antibodies to HBcAg imply past infection, antibodies to HBsAg alone) imply vaccination
Management:
- Some I ndications for treatment include, HBV viral greater than 2000IU/mL, evidence of active liver disease, pre-existing liver disease
- Nice guidelines recommend an initial trial with Peginterferon Alpha-2a for 48 months for chronic hepatitis. Tenofovir is recommend as an option in patients who fail to respond to interferon alone.
Complications: cirrhosis in 20%, HCC in 5-10%, fulminant hepatic failure, cholangiocarcinoma, cyroglobulinaemia.
Describe Hepatitis C, its management, and complications.
RNA favivirus, spread through blood products, IVDU, Sexual, acupuncture, Chronic infection in 70-90%. No immunisation
Management:
Direct acting agents with specific regimes influences by the genotype (1, 2+3, 4+5+6) Simepravir (Genotype 1+4) + Sofosbuvir (All genotypes) Velpatascvir (All genotypes)
Complications: Cirrhosis, HCC, glomerulonephritis, cyroglobulinaemia, thyroiditis, autoimmune hepatitis, polyarteritis nodosa, polymyositis, porphyria cutanea tarda, non-Hodgkin’s lymphoma.
Describe Hepatitis D, and the types of infection.
Hepatitis D is a single stranded RNA virus transmitted parenterally. It is an incomplete RNA virus that required Hepatitis B Surface antigen to compete its replication and tramission cycle.
Hepatitis D Terminology:
- Co-infection: Hepatitis B and Hepatitis D infection at the same time.
- Superinfection: a hepatitis B surface antigen postive patient subsequently develops a hepatitis D infection.
Superinfection is associated with a high risk of fulminant hepatitis, chronic hepatitis status and cirrhosis.
Diagnosis is made via reverse polymerase chain reaction of hepatitis D RNA. Interferon is currently used as treatment but with a poor evidence base.
Describe Hepatitis E, its symptoms, investigations, and management.
RNA virus similar to Hepatitis A, common in indochina (thailand, Indonesia etc) mortality high in prengnancy, vaccine available in china also associated with pork consumption. Infection causes acute Hepatitis, more rarely can cause Chronic Hepatitis Particularly in immunosuppressed males age 60-70. Spread via Faecal-oral route. RNA +Ve after 3 months signifies Chronic Hepatitis E infection.
Symptoms: Jaundice, Lethargy.
Investigations: Hepatitis E Antibodies +/- RNA.
Management:
- Mostly Conservative
- Ribavirin may be used for chronic, or severe acute hepatitis E or Acute on Chronic Liver Failure
Causes of hepatitis
Viral, alcohol, drugs/toxins, CMV/EBV, leptospirosis, malaria, Q fever, syphillis, yellow fever, obesity, autoimmune hepatitis, wilson’s.
Describe Mesenteric Ischaemia, its symptoms, and risk factors
Primarily caused by arterial embolism
Symptoms: presents with abdominal pain, diarrohoea, fever, rectal bleeding, metabolic acidosis, increased WBC
Risk factors: Atrial fibrillation, Increasing age, endocarditis, DVT, Cardiovascular disease, smoking, hypertension, diabetes
What are the inherited causes of unconjugated hyperbilirubinaemia?
Gilbert’s syndrome and Crigler-Najjar syndrome
What are the inherited causes of conjugated hyperbilirubinaemia?
Rotor’s syndrome and Dubin-Johnson syndrome
Describe pancreatic cancer, it’s risk factors, signs and symptoms, tests, and management
Typically presents in males >60yrs old. Mostly ducal adenocarcinoma which metastasise early and present late. 60% arise in the head of the pancreas, 25% in the body and 15% in the tail. Rarely they may arise in the ampulla of vater or pancreatic islet cells both of which have better prognosis. ~95% have mutations in the KRAS2 gene
Risk factors: smoking, alcohol, DM, chronic pancreatitis, increased waist circumference and high fat/red meat diet
Signs and symptoms: tumours in the head of the pancreas present with painless obstructive jaundice. 75% of body and tail tumours present with epigastric pain that radiates to the back (relieved by sitting forward). Either may also present with weight loss, diabetes or acute pancreatitis.
Tests: ultrasound or CT imaging
Management: prognosis is poor
Describe Hepatocellular carcinoma its signs and symptoms, causes, test and treatment.
Accounts for ~90% of primary liver tumours though 90% of all liver tumours are metastatic. It is common in China and Africa (40% of cancers) and 3 times more common in men
Signs and symptoms: fatigue, decreased appetite, weight loss, RUQ pain, jaundice, ascites
Causes: HBV is leading cause, HCV, autoimmune hepatitis, cirrhosis (alcohol, haemochromatosis, PBC), NAFLD
Tests: CT, MRI and biopsy, AFP,
Treatment:
Should be managed according to the Barcelona Classification for Liver Cancer Treatment System.
Patients with Child-Pugh A cirrhosis without signs of portal hypertension who have single lesions <2cm in size should be treated with surgical resection.
For those patients with Child-Pugh A and B cirrhosis and 2-3 tumours <= 3 cm or 1 tumour <=5 cm without vascular invasion or extrahepatic spread should be considered for liver transplantation. As a bridge to liver transplantation these patients can be treated with TACE or RFA.
For those patients who have Child-Pugh A or B cirrhosis , good performance status, and evidence of vascular, lymphatic or extrahepatic spread the multiple tyrosine kinase inhibitor, Sorafenib, has been shown to prolong survival.
Those with Child-Pugh C cirrhosis have end-stage liver disease and are poor candidates for therapy as they lack any hepatic functional reserve to tolerate either resection, TACE or RFA. These patients are best treated symptomatically. Early involvement of community and/ or hospital palliative care teams should be considered. Best supportive care is therefore the correct option here.
Describe Hereditary haemochromatosis, it’s signs and symptoms, tests, management, and complications
An inherited disorder of increases intestinal iron absorption leading to deposition of excess iron in joints, liver, heart, pancreas, pituitary, adrenals and skin. Disease appears earlier and more severely in men menstrual blood loss is protective
Signs and symptoms: early may be a symptomatic or , lethargy, arthralgia (2nd+3rd MCP joints + knee psuedogout), decreased erections. Later on slate-grey skin pigmentation, chronic liver disease signs, cirrhosis, dilated cardiomyopathy, bronze diabetes, hypogonadism
Tests: Raised transferrin saturation ( over 45%) bloods also show deranged LFTs and raised serum ferritin plus elevated glucose. Echo and liver biopsy.
Management: venesection, monitor LFT and DM may progress to cirrhosis and then HCC
Complications may be split according to reversibility:
- Irreversible: Cirrhosis, Diabetes Mellitus, Hypogonadotrophic Hypogonadism, Arthropathy
- Reversible: Cardiomyopathy, Skin pigmentation
Describe Primary Biliary Cirrhosis (PBC), its presentation, tests and treatment
Interlobular bile ducts are damaged by chronic autoimmune granulomatous inflammation causing cholestasis which may lead to fibrosis, cirrhosis and portal hypertension. Associated with anti-mitochondrial antibodies. The M rule, Middle aged females, anti-Mitochondrial antibodies, IgM.
Presentation: typically middle-aged 50yrs, females, often asymptomatic and diagnosed after finding increased ALP on routine LFT. Lethargy, sleepiness, and pruritus may precede jaundice by years. Clubbing. Sicca syndrome occurs in 70% (also known as sjogrens)
Tests: Increased ALP, y-GT, mildly raised AST,ALT. Late disease shows hyperbilirubinaemia, hypoalbuminaemia, AMA+ve. US to exclude post-hepatic cholestasis.
Treatment:
- Colestyramine for pruritus
- codeine phosphate for diarrhoea
- Vitamin ADK.
- Ursodeoxycholic acid first line, Obeticholic acid second line
- When jaundice develops transplantation is usually required.
Describe Primary Sclerosing Cholangitis (PSC), it symptom and signs, tests and treament
PSC entails progressive cholestasis with bile duct inflammation and strictures. Associated with HLA-A1,B8,DR3 Males, AIH and IBD especially UC. Associated with more bile duct, gallbladder, liver and colon cancer and so yearly colonoscopy and ultrasound required.
Symptoms: Pruritus +/- fatigue if advanced ascending cholangitis, cirrhosis and end-stage hepatic failure.
Tests: Raised ALP, then bilirubin, hypergammaglobulinaemia, AMA-ve but ANA, SMA and ANCA may be +ve. ERCP distinguishes large duct fro small duct disease. Liver biopsy shows a fibrous, obliterative cholangitis.
Treatment: liver transplant is the mainstay for end-stage disease, recurrence occurs in up to 30%.
Describe Non-alcoholic fatty liver disease (NAFLD) and its risk factors.
Fatty liver entails steatosis +/- inflammation (steatohepatitis). Consider if a patient presents with deranged LFT (typically raised ALT) or a fatty liver on ultrasound and drink less than 18u/wk. It may progress to hepatic fibrosis +/- HCC. Typically occurs in middle-aged obese females.
Risk factors include DM, dyslipidaemia, parenteral feeding, jejuno-ileal bypass, wilson’s disease, drugs (amiodarone, methotrexate, tetracycline).
Describe Alcoholic Liver Disease, its symptoms, investigations, and management,
Primary cause of liver disease, progresses to cirrhosis in 80%. Also risks of variceal bleeding and HCC.
Symptoms: Malaise, tachycardia, anorexia, D+V, tender hepatomegaly +/- jaundice. Upper GI bleeds, ascites.
Investigations: Bloods show raised WCC, low platelets, increased INR, AST, MCV and urea. AST:ALT ratio is typically >2. If ALT is higher think of an ALTernative diagnosis. AST rarely exceeds 500 and ALT rarely exceeds 300
Management:
-Prednisolone 40mg PO OD 4wks after an infection screen.
Describe Cirrhosis, its causes, signs, investigtions, and complications.
Cirrhosis implies irreversible liver damage characterised histologically by loss of normal hepatic architecture with bridging fibrosis and nodular regeneration.
Causes: Most often chronic alcohol abuse, HBV, HCV infection. Others include haemochromatosis, a1AT deficiency, wilson’s disease, NAFLD, PBC, PSC, AIH, drugs (amiodarone, methyldopa, methotrexate)
Signs of chronic liver disease: leuconychia, clubbling, palmar erythema, hyperdynamic circulation, Dupuytren’s contracturem spider naevi, xanthelasma, gynaecomastia, atrophic testes, loss of body hair, partoid enlargement, hepatomegaly.
Signs for decompensated liver disease: ascites, jaundice, encephalopathy.
Tests: Raised bilirubin, AST, ALT, ALP, yGT. decreased Albumin. Decreased platelets and WCC indicate hypersplenism. liver biopsy confirms diagnosis. ascitic tap
Complications:
- hepatic failure = coagulopathy, encephalopathy, hypoalbuminaemia, sepsis, Spontaneous Bacterial Peritonitis (more than 250cells/mm3 of ascitic fluid), hypoglycaemia
- Portal hypertension = ascites, splenomegaly, oesophageal varices, low platelets.
Describe Autoimmune Hepatitis its typical presentation, types, tests and management.
An inflammatory liver disease characterised by suppressor T-cell defects with autoantibodies against hepatocyte surface antigens. AIH predominantly affects young or middle-aged women.
Presentation: Up to 40% present with acute hepatitis (fever, jaundice, RUQ pain) and signs of autoimmune disease e.g. fever, malaise, urticarial rash, polyarthritis, pleurisy, pulmonary infiltration or glomerulonephritis, amenorrhoea,
Types:
- AIH 1: Positive ANA and SMA, Anti-actin, elevated in IgG
- AIH 2: Positive LKM-1 (Tyically female children/teenagers, rare in adults)
- AIH 3: Positive Soluble liver antigen antibodies.
Tests: serum bilirubin, AST, ALT and ALP are usually raised, hypergammaglobulinaemia, +ve autoantibodies (e.g. Antismooth muscle antibodies, ANA).
Management: Immunosuppression with prednisolone 30mg/d PO for a month decreasing by 5mg a month to maintenance dose of 5-10mg/d. Azathioprine may be used a steroid-sparing agent.
What is a Hernia?
A hernia is the protrusion of a viscus or part of a viscus through the walls of its containing cavity into an abnormal position
Describe Ulcerative Colitis, its symptoms and signs, investigations, and management.
Relapsing, Remitting inflammatory disorder of the colonic mucosa, proctitis in 50%, left-sided colitis in 30%, or pancolitis in 20%. It does not spread proximal to the oleo areal valve (except for backwash ileitis). There is hyperaemic/haemorrhagic granular colonic mucosa +/- pseudopolyps formed by inflammation. 3x as common in non-smokers, symptoms may relapse on smoking cessation.
Symptoms + Signs:
Episodic or chronic diarrhoea +/- blood and mucus, crampy abdominal discomfort, bowel frequency related to severity. Proctitis may present with urgency/tenesmus. Systemic symptoms include fever, malaise, weight loss. There may be clubbing, aphthous oral ulcers, erythema nodosum, pyoderma gangrenosum, large joint arthritis, conjunctivitis, Ankylosing spondylitis, Primarmy sclerosing cholangitis.
Investigations: Bloods: -FBC (may show anaemia) -ESR (greater than 30mm/hr in severe UC) -CRP (raised inflammatory marker) -LFT (evidence of extra-intestinal involvement) -pANCA Stool MC+S to exclude infectious cause. Imaging: -AXR (mucosal thickening, colonic dilatation -CXR (exclude perforation) -Colonoscopy shows disease extend and allows biopsy (shows inflammatory infiltrate, depleted goblet cells, glandular distortion, mucosal ulcers, crypt abscesses)
Management:
-assess severity with truelove+witts criteria.
Inducing Remission:
- Mild UC, 5-ASA e.g. Sulfasalazine or Mesalazine + Steroids e.g. Prednisolone 20mg/d PO or enema. If improving in 2 weeks ween of steroid otherwise treat as moderate UC.
- Moderate UC, try Prednisolone 40mg/d PO 1wk, then 30mg/d 1wk, then 20mg/d 4wks + 5-ASA + TDS Steriod enemas. If improving, ween of steroids otherwise treat as severe UC.
- Severe UC, admit, NBM + IV hydration. Hydrocortisone 100mg/6h IV. Rectal Steroids. Monitor vitals if improving in in 5d Predinisolone 40mg/d PO and 5-ASA to maintain remission. If continued trouble action such as surgery or rescue therapy with ciclosporin or infliximab may be needed.
Maintaining remission: All 5-ASAs decrease relapse rate from 80% to 20%. Sulfasalasine is first line SEs include headache, nausea, hyperthermia, rash, haemolysis (monitor FBC and U+E at start, then at 3 months and then annually), hepatitis, pancreatitis, paradoxical worsening of colitis, reversible oligospermia. Mesalazine has reduced side-effect profile but is more expensive reserve for those intolerant or young men.
Surgery: this is needed at some stage in 20% e.g. Proctocolectomy + terminal ileostomy. Indications are perforation, massive haemorrhage, toxic dilatation, failed medical therapy.
Describe Dyspepsia/Peptic Ulcer Disease, its symptoms, red flags, and management.
Dyspepsia (indigestion), may be functional (non-ulcer) or be associated with ulcers either duodenal or gastric. Duodenal ulcers are x4 more common than gastric, gastric mainly occur in the elderly.
Symptoms: Epigastric pain often related to hunger (pain before meals relieved by eating = duodenal, pain after food relieved by antacids = gastric) +/- bloating, fullness after meals, heartburn (retrosternal burning pain caused by reflux), tender epigastrium.
Red Flags:
ALARM Symptoms = Anaemia, Loss of weight, Anorexia, Recent onset/progressive symptoms, Melena/haematemesis, Swallowing difficulty.
Management:
- refer for upper GI endoscopy under 2WW if over 55yrs and ALARM Symptoms.
- If not stop drugs causing dyspepsia such as NSAIDs, lifestyle changes such as weight loss, smoking cessation, avoiding acidic foods, trial over-counter antacids, review in 4wks.
- No improvement, test for H.pylori if +ve triple eradication therapy, (Omeprazole, clarithromycin, amoxicillin ) must be PPI free for 2 weeks
- Trial with PPI e.g. Omeprazole, or lansoprazole. Or ranitidine H2 Antagonists.
- If still no improvement consider upper GI endoscopy.
What are some causes of Constipation?
Causes:
- General e.g. Poor diet, lack of exercise, poor fluid intake, IBS, old age, hospital environment
- Anorectal disease (especially if painful) e.g. Anal or colorectal cancer, fissures, strictures, rectal prolapse, proctaglia fugax, mucosal ulceration, pelvic muscle dysfunction
- Intestinal obstruction e.g. Colorectal carcinoma, strictures (crohn’s), pelvic mass, diverticulosis, pseudo-obstruction.
- Metabolic/endocrine e.g. Hypercalcaemia, Hypokalaemia, porphyria, lead poisoning.
- Drugs e.g. Opiates, anticholinergics, iron, diuretics, calcium channel blockers.
- Neuromuscular e.g. Spinal or pelvic nerve injury, aganglionosis, diabetic neuropathy
- Other e.g. Psychological, anorexia nervosa, depression, child abuse.
Describe Crohn’s Disease, it’s presentation, investigations, and management.
A chronic inflammatory GI disease characterised by transmural granulomatous inflammation affecting any part of the gut from mouth to anus (especially terminal ileum). Unlike UC these is unaffected bowel between areas of active disease (skip lesions). Usually presents between 20-40yrs. Smoking increased risk and NSAIDs may exacerbate disease.
Presentation: Diarrhoea/urgency, abdominal pain, weight loss, fever, malaise, anorexia. Other signs include aphthous ulcerations, abdominal tenderness, perianal abscess/fistulae/skin tags. Clubbing, joint and eye problems also occur.
Investigations:
- Bloods FBC, ESR, CRP, LFT, INR, Ferritin, B12.
- Anti-Saccharomyces Cerevisae Antibodies
- Colonoscsopy + rectal biopsy.
Management:
- Sole source liquid formula diet has shown to be as effective as steroids.
- Prednisolone for mild attacks/remission
- azothioprine as steroid sparing agent.
- sever attacks require IV hydrocortisone, and metronidazole.
- If not under control can move towards methotrexate and TNF-a inhibitors.
- Metronidazole is first line for perianal disease
Describe Coeliac Disease, it’s presentation, investigation, and management.
T-cell mediated autoimmune disease of the small bowel in which prolamin (gluten) intolerance cause villous atrophy and malabsoprtion. It is associated with HLA DQ2 in 95% and DQ8 in the rest. Also associated with other autoimmune disease and dermatitis herpetiformis.
Presentation: stinking stools/ steattorrhoea, diarrohoea, abdominal pain, bloating, aphthous ulcers, angular stomatitis, weight loss, lethargy, failure to thrive.
Investigations:
- Bloods FBC (anaemia), increased RCDW (mixed megaloblastic and microcytic picture) low Ferritin (iron-deficiency), Low B12. Antibodies e.g. Alpha-gliadin, transglutaminase and anti-endomysial antibodies. They are IgA so check IgA levels in case of deficiency.
- Endoscopy, jejuno or duodenal biopsy shows subtotal villous atrophy, intra-epithelial WBCs, crypt hyperplasia. Beware negatives results if already on gluten-free diet.
Management: -life-long gluten free diet. -advice on coeliac UK charity -increase risk of GI T-cell lymphoma if poorly controlled monitor by testing antibodies. -
Describe Appendicitis, its symptoms, tests, complications, and management.
Most common surgical emergency. Can occur at any age but highest incidence is in 10-20yrs. It is rare before the age of 2.
Symptoms: classically peri umbilical pain that moves the right iliac fossa. Anorexia is an important feature, committing is rarely prominent and normally preceded by pain. Constipation is usual though diarrohoea may occur. There may be guarding, rebound + percussion tenderness. Tachycardia, Fever (37.5-38.5), furred younger, lying still, coughing hurts, shallow breaths. Rovsing’s sign (pain worse in RIF when LIF pressed), Psoas sign (pain on extending hip if retrocaecal appendix), Cope sign (pain on flexion and internal rotation of right hip if appendix in close relation to obturator internus)
Tests: Bloods may show neutrophil leucocytosis, elevated CRP. USS may help, CT has high diagnostic activity if diagnosis unclear.
Complications:
- perforation, commoner in children as diagnosis is often delayed.
- Appendix mass, appendix abscess.
Management:
- inform on-call GI surgeon, admit
- Prompt appendicectomy
- Abx metronidazole 500mg/8h + Cefuroxime 1.5g/8h
What are the King’s College Hospital criteria for liver transplantation?
Paracetamol-induced liver failure:
- arterial pH less than 7.3 24h after ingestion or all of the following
- Prothrombin time greater than 100s
- creatinine over 300umol/L
- Grade III or IV encephalopathy
Non-Paracetamol Liver Failure
- PT over 100s OR 3 of 5 of the following:
- Drug induced liver failure
- less than 10yrs old or over 40
- at least 1wk between jaundice to encephalopathy
- PT over 50s
- Bilirubin over 300umol/L
Describe Acute Pancreatitis, it’s causes, symptoms, and management.
Causes: GET SMASHED, Gallstones, Ethanol, Trauma, Steroids, Mumps, Autoimmune, Scorpion venom, Hypertriglyceridaemia + Hypercalcemia + Hypothermia, ERCP, Drugs e.g. Azothioprine, mesalazine, Bendroflumethiazide, steroids, sodium valproate.
Symptoms: Severe constant epigastric pain or central abdominal radiating to back, sitting forward may relieve (this pain is due to irritation to the coeliac ganglion), vomiting, low-grade fever, abdominal tenderness, ileus, peri umbilical discolouration (Cullen’s sign) and flank discolouration (grey-turners signs).
Management:
- check BMG and SpO2
- serum amylase/lipase likely to be high over 5x upper limit
- FBC may show high WCC
- U+E, Ca2+, Glucose (Hypocalcaemia is relatively common)
- coagulation screen
- CXR, ECG, ABG, lactate if unwell
- IV fluids, analgesia + anti-emetic
- Insert NG tube
- Urinary catheter monitor UO
- Ranson/Glasgow scoring criteria
- refer to medical team/HDU
Describe Ascending Cholangitis, its symptoms and management.
A bacterial infection of the biliary tree. Most common predisposing factor is gallstones.
Symptoms: Charcot triad of RUQ pain, fever and jaundice occurs in about 20-50% of patients. Fever is most common followed by RUQ and then jaundice. May also be hypotensive and/or confused.
Management:
- IV antibiotics e.g. Cefuroxime and Metronidazole
- ERCP after 24-48hrs to relieve any obstruction
Describe Acute Cholecystitis, its symptoms, and management.
Follows stone or sludge impaction in the neck of the gallbladder.
Symptoms: Colicky pain but more severe and persistent, it may radiate to the back or right shoulder. Patient may be pyrexial and Murphy’s sign positive I.e. Arrest of inspiration on palpation of RUQ.
Management:
- NBM, pain relief, Cefuroxime.
- laparoscopic cholecystectomy is treatment of choice for all patients fit for GA.
Describe Irritable Bowel Syndrome, its symptoms, red flags, and management.
A group of abdominal symptoms for which no organic cause can be found. Most are likely due to disorders of interstitial motility or enhanced visceral perception. Faecal calprotectin can exclude IBD.
Symptoms: Abdominal pain relieved by defecation or associated with altered stool form and at least 2 of urgency, incomplete evacuation, abdominal bloating, worsening symptoms after food. Symptoms are chronic and exacerbated by stress, menstruation.
Red Flags: age over 40yrs, history less than 6 months, anorexia, weight loss, waking at night with pain/diarrhoea, mouth ulcers, abnormal CRP, ESR, Hb, coeliac serology. Investigate PR bleeding urgently.
Management:
- Ensure healthy diet
- Fibre, lactose, fructose, wheat, starch, caffeine, sorbitol, alcohol, fizzy drinks can worsen symptoms try modifying diet to balance symptoms.
- anti-spasmodic S e.g. Mebeverine may help
- Psychological wellbeing +/- CBT amitryptilline can help.
Describe Hereditary Haemorrhagic Telangiectasia and its diagnostic criteria
Aka Osler-Weber-Rendu disease, a rare autosomal dominant disorder characterised by multiple telangiectasia over the skin and mucous membranes. 20% of cases occur spontaneously without prior FHx
Symptoms: 4 main diagnostic criteria 2 = possible diagnosis, 3 or more is definite diagnosis:
- Epistaxis - spontaneous, recurrent nosebleeds
- Telangiectases: multiple at characteristic sites (Lips, oral cavity, fingers, nose)
- visceral lesions - e.g. GI bleeding, Pulomary AV malformations, Hepatic AVM, Cerebral AVM, spinal AVM
- FHx - (first degree relative).
Describe Peutz-Jeghers syndrome, its genetics, features, and management.
Autosomal Dominant disorder characterised by numerous hamartomatous polyps in the GI Tract. It is also associated with pigmented freckles on the lips, face, palms and soles. There is a 15-fold increased risk of GI cancer and around 50% will have died from a GI cancer by the age of 60.
Genetics: Autosomal dominant, mutations of tumour suppressor gene STK11 or LKB1
Features:
- Hamartomatous polyps in GI tract.
- Pigmented mucocutaneous dark freckles on lips, oral mucosa, palms and soles
- intestinal obstructio or intussception
- GI bleeds.
Management:
- Conservatice unless complications develop
- Perform colonoscopy (from age 18) and OGD (from age 25) every 3yrs
Describe Bowel Obstructions, the types, symptoms, and management.
Types:
- Small Bowel Obstruction: Vomiting present earlier, distension is less, and pain is higher in the abdomen. AXR shows central gas shadows with valvulae conniventes that completely cross the lumen and no gas in the large bowel.
- Large Bowel Obstruction: Pain is more constant, more distension. AXR shows dilated large bowel with Haustra peripherally arranged.
Symptoms: Vomiting, Colicky pain, constipation, distension,
Management:
- Drip and Suck, NGT and IV fluids
- Consider CT to look for cause of obstruction
- if strangulated emergency surgery is needed.
Describe Zollinger-Ellison Syndrome, its symptoms, investigations, and management.
Gastrin-secreting tumour, which cause multiple refractory and recurrent peptic ulcers. Can present as MEN1 Autosomal dominant disorder
Symptoms: Epigastric pain, diarrhoea, weight loss, GI bleeding. Treatment resistant dyspepsia.
Investigations:
-FBC may show IDA, Ferritin may be low, Parathyroid hyperplasia is a common feature of MEN1, Calcium may be elevated. H.Pylori testing, endoscopy if severe or red-flags, 3 x fasting Gastrin levels, prolactin levels, CT for staging
Management:
- ABCDE approach if GI bleeding.
- Oral PPIs
- Surgical resection of primary tumour.
Describe Chronic Pancreatitis, it’s causes, symptoms, investigations, and management.
Symptoms: Epigastric pain ‘bores’ through to back, relieved by sitting forward or hot water bottles on epigastrium, also bloating, steattorrhoea, weight loss, brittle diabetes.
Causes: Alcohol mostly, rarely familial, CF, haemochromatosis, pancreatic duct obstruction, Hyperparathyroidism, congenital.
Investigations: US +/- CT looking for pancreatic calcification.
Management:
- analgesia
- insulin for diabetic needs
- alcohol cessation
- lipase + fat so;unless vitamins.
Describe Diverticular Disease, it’s symptoms, complications and management.
Outpouching of gut wall, which may become inflamed. They can be congenital or more commonly acquired through age.
Symptoms: There may be later altered bowel habit plus left-sided colic relieved by defecation. Nausea and flatulence. Diarrohoea may occur if inflamed.
Complications:
- perforation
- haemorrhage usual cause of big rectal bleeds
- fistulae
- abscess
Management:
- due to symptoms referral should be made for colonoscopy to exclude bowel cancer
- high fibre diet may help
- mebeverine may help
- Abx if fever and diarrhoea
