Gastroenterology Flashcards
What is achalasia?
Absent or uncoordinated oesophageal muscular action with a failure of relaxation of the lower oesophageal sphincter
Recall the pathophysiology of achalasia
Breakdown of ganglion cells in mesenteric plexus
Recall the symptoms of achalasia
Intermittent dysphagia
Regurgitation at night
CP and heart burn
What is a common complication of achalasia to be wary of?
Aspiration pneumonia
What specialist investigation should be done for achalasia?
Barium swallow
Recall 3 causes of acute cholangitis
Biliary colic
Biliary stenosis
Cholangiocarcinoma
What is Charcot’s triad?
The triad used to describe symptoms of acute cholangitis
Recall Charcot’s triad and Reynold’s pentad
Triad: RUQ pain, jaundice, fever with rigors
Pentad = + confusion + septic shock
Describe the blood results of someone with acute cholangitis
High WCC
Raised CRP and ESR
LFTs similar to those you would expect in jaundice
If biliary stones are non-calcified, which investigation should be done?
MRCP
What is the first-line in management of acute cholangitis?
Broad-spectrum ABx
Why is the mortality of acute cholangitis high?
Can cause liver failure
Recall the names of each state of liver damage
Steatosis (fatty liver)
Hepatitis
Cirrhosis
Describe the liver in hepatitis
Necrotic with regions of fatty inflammation
Recall the mnemonic for and the signs of alcoholic hepatitis
Particularly Excessive Gin Drinking Can Make Hepatic Fatty Tissue Start Necrotising Palmar Eryhtema Gynaecomastia Dupuytren's Contracture Malnutrition Hepatomegaly Facial Telangiectasia Spider Naevi
Recall the mnemonic for and the symptoms of severe acute alcoholic hepatitis
BEAST Bruising Encephalopathy Ascites Splenomegaly Tachycardia
Recall 2 things of note in the FBC of someone with alcoholic hepatitis
High WCC
Macrocytic anaemia
What will be low in the LFTs of someone with alcoholic hepatitis?
Albumin
What is the most common cause of anal fissure?
Hard faeces
What is an anal fissure?
Tear in SQUAMOUS lining of lower anal canal
Recall some symptoms of anal fissure
Pain
Blood in stool
Pruritis ani
Recall the management of anal fissure
Conservative: high fibre diet, laxatives and hydration
Mecial: lidocaine, GTN (relaxes internal sphincter)
Surgical: lateral sphincterectomy (caution: often causes incontinence)
Summarise the pathophysiology of appendicitis
- Gut lumen obstruction
- Bacteria have opportunity to invade appendix
- Results in oedema, ischaemic necrosis and perforation
Recall one peculiar sign of appendicitis
Tongue-furring
Recall the 3 special signs that can be elicited in appendicitis
Rovsing’s: pushing down on LIF increases pain in RIF
Psoas: pain on hip extension
Cope: plain on flexion and internal rotation of hip
What is the test performed to confirm a diagnosis of appendicitis?
US/CT
What is the aetiology of autoimmune hepatitis?
Unknown
Recall 3 features of a blood test that are abnormal in autoimmune hepatitis
Hyperglobulinaemia (ANA, ASMA, Anti-LKM)
Same LFTs as alcoholic hepatitis (low albumin, high everything else)
WCC is LOW (unlike alcoholic hepatitis)
Recall the immunoglobulins present in type 1 and type 2 autoimmune hepatitis
Type 1: ANA, ASMA, Anti-SLA, AAA
Type 2: ALKM-1, ALC-1
Recall the aetiology of Barrett’s oesophagus
- Prolonged exposure of squamous epithelium to acid from GORD
- Mucosal inflammation and erosion
- Transformation into columnar epithelium (METAPLASTIC CHANGE)
What is the main sinister consequence of Barrett’s oesophagus?
Can lead to adenocarcinoma
What is water-brash and what is it a common symptom of?
Sour taste when swallowing: GORD, barrett’s oesophagus
What investigations need to be done to confirm a diagnosis of Barrett’s oesophagus?
OGD and biopsy
Recall the management of low-grade dysplasia in Barrett’s oesophagus
Endoscopic surveillance
Recall the management of high-grade dysplasia in Barrett’s oesophagus
For fit and well pt: mucosal resection
Otherwise: mucosal ablation
What causes the waves of pain in biliary colic?
Contraction of biliary tree around stone
Where may biliary colic pain radiate to and why?
Right scapula: due to diaphragmatic irritation
Recall 2 findings on ultrasound that indicate biliary colic
- Dilation of common bile duct
2. Hypertrophy of gallbladder wall
Recall 2 uses of ERCP in biliary colic
- Diagnostic
2. Therapeutic - can be sued to remove small stones
Recall the surgical management of biliary colic
Laparoscopic cholecystectomy
What is cholecystitis
The INFLAMMATION of the gallbladder that is caused by biliary stones
What is the composition of most gallbladder stones?
Mixed: cholesterol, calcium bilirubinate, protein and phosphate
What is Murphy’s sign used to diagnose?
Cholecystitis?
What is Murphy’s sign?
Ask patient to exhale then inhale deeply as you push your hand up under their rib cage on the RHS - causes lots of pain and they catch their breath
Recall the expected LFT abnormalities in cholecystitis
High ALP and GGT
Describe the histopathology of the liver in cirrhosis
Normal liver architecture replaced by diffuse fibrosis, nodules of regenerating hepatocytes present
Which types of hepatitis can lead to cirrhosis?
B and C
Define decompensated cirrhosis
Cirrhosis that is complicated by jaundice, encephalopathy, GI bleeding and ascites
Systematically recall the symptoms of liver cirrhosis
Systemic effects: anorexia, fatigue
Due to loss of synthetic function: easy bruising, ankle oedema
Due to loss of detox function: jaundice. amenorrhoea, personality change
Due to portal hypertension: haematemesis, melaena, abdominal swelling
Recall ALL the signs of liver cirrhosis
Easy bruising Gynaecomastia Dupuytren's contracture Spider Naevi Leukoonychia Asterixis Ascites Jaundice Clubbing Facial telangiectasia Caput medusae Scratch marks Palmar erythema Splenomegaly Hepatomegaly
What does an FBC show in liver cirrhosis and why?
Low platelets and haemaglobin
This is due to hypersplenism
Hypersplenism is a result of portal hypertension
What conditions can an elevated serum AFP be used to diganose?
Elevated: liver cirrhosis
Super-high: hepatocellular carcinoma
What is the use of an ascitic tap in liver cirrhosis?
Do MCS
If neutrophils are >250, is spontaneous bacterial peritonitis
Using what system is liver cirrhosis graded?
Child-pugh
Recall the histopathological appearance of the gut in coeliac disease
Subtotal villous atrophy
Crypt hyperplasia
What is the major cause of signs in coeliac disease?
Malnutrition
What sort of anaemia presents in coeliac disease?
Iron-deficiency
What is the key serological finding in coeliac disease?
Anti-gliadin
Summarise the defining characteristics of Crohn’s disease
- Granulomatous inflammation (so involves neutrophils)
- Can be anywhere in length of gut
- May cause erosion into the deep mucosa
What stool symptoms are common in Crohn’s disease?
Diarrhoea and steatorrhoea
What external signs of crohn’s disease may be seen upon examination of the anus?
Perineal skin tags
Fistulae
Recall some extra-articular manifestations of Crohn’s diease
Finger clubbing
Mouth ulcers
Uveitis
Erythema nodosum
Which elements of the FBC are elevated in Crohn’s disease?
WCC
Platelets
Describe the ESR and CRP in Crohn’s disease
ESR high
CRP may be normal or high
How can you distinguish infective colitis from Crohn’s disease?
Stool MC&S
Describe the management of an acute flair up of Crohn’s disease
Corticosteroids
5-ASA analogues (mesalazine)
Analgesia
Describe the long-term management of chronic Crohn’s disease
Mesalazine/olsalazine
Anti-TNF/immunosuppression
Recall some common complications of Crohn’s disease
Strictures Perforation of bowel Fistulae Haemorrhage GI cancers
What are diverticulae?
Outpoachings of colonic mucosae/submucosae
Define diverticular disease
Diverticulitis PLUS COMPLICATIONS (haemorrhage, infection, fistulae)
Recall the aetiology of diverticulae formation
Low fibre diet –> higher intraluminal pressure required to expel stool
Higher pressure –> herniation of mucosa
Where do diverticulae most commonly appear?
At sites of nutritional artery penetration
What is the main complication of diverticulae?
They get obstructed with faeces leading to bacterial overgrowth and peritonitis
What are the Hinchley criteria used for?
Recall them
Staging of diverticular disease
1a: Phlegmon
1b: Localised abscesses
3: Purulent peritonitis
4: Faecal peritonitis
Where is right-sided diverticulitis most common?
Asia
What symptoms can be caused by fistulae?
Pneumaturia
Faecaluria
What is the diagnostic test used for diverticulae?
Barium enema
Do not use in acute setting in case of perforation
What is the management for diverticulitis?
Bowel rest
IV antibiotics
Rehydration
What does time of onset in gastroenteritis indicate about aetiology?
Toxins = early onset (1-24 hours)
Bacteria/viruses/protozoa have a later onset (12+ hours)
Recall and justify the blood tests that should be done for gastroenteritis
FBC
Blood culture (bactaraemia?)
U&Es (dehydrated?)
Where are the most common sites of gastrointestinal perforation?
Colon
Gastroduodenal
What are the most likely causes of colon perforation?
Cancer
Diverticulitis
Appendicitis
What is the most likely cause of gastroduodenal perforation?
Perforated ulcer
Describe the signs of GI perforation
Quite non-specific but they will be very unwell
Signs of shock, dehydration and pyrexia
What would a CXR show in GI perforation?
Air under diaphragm
Recall the surgical management of GI perforation
Peritoneal lavage
For large bowel perforation: resection
For small bowel perforation: close with omental patch
Recall 3 things that aggravate heartburn in GORD
Lying supine
Large meals
Alcohol
If someone has GORD and begins to experience dysphagia, what does this indicate?
Stricture has formed
Differentiate internal and external haemorrhoids
Internal: above dentate line, arising from superior haemorrhoidal plexus
External: below dentate line
Recall and define each degree of haemorrhoid classification
1st degree: no prolapse
2nd degree: prolapses on defaecation and resolves spontaneously
3rd degree: prolapses on defaecation and needs to be resolved manually
4th degree: Prolapse which cannot be reduced
Describe how haemorrhoidal blood appears in stool
Does not mix with stool
Which investigations must be done when haemorrhoids are suspected and why?
DRE
Flexible sigmoidoscopy
Need to exclude any other causes of blood in stool that are more sinister
Recall the management of haemorrhoids
Conservative: high fibre diet. laxatives, topical analgesic
Minor surgery: injection scleropathy (induces fibrosis of dilated veins) and banding (causes haemorrhoid to fall off in a few days)
Surgical: reserved for symptomatic 3rd/4th degree haemorrhoids
Which abdominal contents are protuding into the inguinal region in an inguinal hernia?
Peritoneum
Recall which type of inguinal hernia arises medial and lateral to the key blood vessel, and what that vessel is
Vessel = inferior epigastric vessels
Direct: medial
Indirect: lateral
Where is the weakness in direct inguinal hernias?
Transversalis fascia
Where do direct inguinal hernias protrude?
Hasselbach’s triangle
Recall the borders of Hasselbach’s triangle
Inferior epigastric artery
Lateral border of rectus
Inguinal ligament
Where do indirect inguinal hernias protrude?
Deep inguinal ring
Which type of hernias can be reduced on cough impulse?
Indirect
What would make an inguinal hernia and emergency?
If it were obstructed or strangulated
What symptoms are produced by a hiatus hernia?
Symptoms of GORD (but usually asymptomatic)
What may be seen on CXR in hiatus hernia?
Gastric air bubble above diaphragm
What is the surgical management of hiatus hernia?
Nissen fundoplication
Recall the symptoms of infectious colitis
Diarrhoea
Blood in stools
Lower abdominal pain
Define intestinal ischaemia
Obstruction of a mesenteric vessel
In what ways might a mesenteric vessel be obstructed?
Thrombus or embolus
Recall 3 symptoms of intestinal ischaemia
- Severe colicky pain
- Vomiting
- Rectal bleeding
Recall 3 signs of intestinal ischaemia
- Abdominal tenderness
- Abdominal distention
- Palpable mass which is ischaemic bowel
What would an ABG show in intestinal ischaemia?
Lactic acidosis
Where is the bowel most susceptible to ischaemia?
Watershed zone - this is near the splenic flexure, between the SMA and IMA supplies
How is intestinal obstruction classified?
Extramural, intramural and intraluminal
Recall a cause of extramural intestinal obstruction
Hernia/ volvulus
Recall a cause of intramural intestinal obstruction
Tumours/ Inflammatory strictures
Recall a cause of intraluminal intestinal obstruction
Foreign body
Recall the 3 key symptoms of intestinal obstruction
Severe colic
Frequent vomiting
Absolute constipation
Recall the 3 necessary investigations for intestinal obstruction
AXR
Water-soluble enema
Barium swallow
How is vomiting managed in intestinal obstruction?
Gastric aspiration
What is the surgical management option for intestinal obstruction?
Emergency laparotomy
Define IBS
Recurrent abdominal pain and discomfort for >6 months, associated with 2 or more out of:
- altered stool passage
- bloating
- passage of mucous
- symptoms being worse post-prandially
Recall one important thing to exclude in a IBS diagnosis and how you would exclude it
H Pylori
Urease breath test
Define liver abscess
Liver infection resulting in a walled-off collection of pus
Define liver cyst
Liver infection resulting in a walled-off collection of cyst fluid
What is a pyogenic liver abscess?
A liver cyst that produces pus caused by bacterial infection
What is the most common cause of pyogenic liver abscess?
Biliary tract disease
What is the most common cause of liver abscess in the Western world vs worldwide?
Western world: bacterial
Worldwide: Entamoeba histolytica
Recall the management of both pyogenic and amoebic liver abscesses
Pyogenic: needle aspiration
Amoebic: metronidazole + amoebacide
What symptoms do liver abscesses produce?
Systemic: fever, night sweats, anorexia
Liver symptoms: RUQ pain, jaundice, diarrhoea
What lung sign may be present alongside a liver abscess?
Right-sided reactive pleural effusion
What is the main complication of liver abscess to be aware of?
Rupture and dissemination causing septic shock/ acute cholangitis/ peritonitis
How is liver failure classified?
Based on time interval between onset of jaundice and hepatic encephalopathy
Hyperacute: <7 days
Acute: 1-4 weeks
Subacute: 4-12 weeks
What is the main cause of acute liver failure in the UK?
Paracetamol OD
What is the pathophysiology of jaundice in liver failure?
Decrease secretion of conjugated bilirubin
What is the pathophysiology of encephalopathy in liver failure?
Decresed clrnce of nitrogenous products such as ammonia –> brain
What would the LFTs show in liver failure?
Low albumin, high everything else
What is the main use of an ascitic tap in liver failure?
To identify spontaneous bacterial peritonitis - indicated by neutrophil count of >250mm^3
Recall the medical management of liver failure if it is caused by paracetamol overdose
N-acetylcysteine
What is the medical management of hepatic encephalopathy?
Lactulose enema to reduce blood ammonia
How is coagulopathy treated in liver failure?
IV Vitamin K
FFP
What are the 2 main complications of liver failure to be aware of?
Cerebral oedema
Renal failure
What is the cause of a mallory-weiss tear?
Straining to vomit
Recall a sign of mallory weis tear
melaena
What is the main investigation that needs to be done in suspected mallory-weis tear?
OGD
Recall the management of mallory weiss tear
80% self-resolve
20% may need surgical repair if bleeding does not stop
Differentiate fatty liver from NASH
Fatty liver = fat accumulation in the liver
Non-alcoholic steatohepatitis = fat plus inflammation and scarring
What are the symptoms of NASH?
Nearly always asymptomtic
In what way would liver tests be deranged in NASH?
Elevated AST and ALT
Recall the mnemonic for and the causes of acute pancreatitis
GET SMASHED
Gallstones
Ethanol
Trauma
Steroids Mumps Autoimmune Scorpion venom Hypercalcaemia ERCP Drugs
Recall 3 drugs that may cause acute pancreatitis
Thiazides
Valporate
Azothioprine
Where does the epigastric pain resulting from acute pancreatitis radiate to?
The back
What can relieve the pain of acute pancreatitis?
Sitting forward
Recall 2 signs that are specific to acute pancreatitis
Grey-Turner’s (flank bruising)
Cullen’s (periumbiliCal bruising)
Recall 4 things that would be elevated on a blood test in acute pancreatitis
WCC
CRP
Amylase
Glucose
What happens to serum calcium in acute pancreatitis and why?
Hypocalcaemia
Calcium binds to digested lipids from pancreas
What are the 2 main scoring systems used to assess the severity of acute pancreatitis?
- Modified Glasgow scale combined with CRP
2. APACHE-II score
What is the main cause of acute pancreatitis for men and women in the UK?
Men: alcohol
Women: gallstones
Define chronic pancreatitis
Irreversible parenchymal atrophy and fibrosis
What is the primary cause of chronic pancreatitis?
Alochol
Describe the amylase level in chronic pancreatitis
Usually normal
What is the first line of management in chronic pancretitis?
A good dose of conservative management with lots of lifestyle advice and support to make changes
What treatment for chronic pancreatitis can be offered endoscopically?
Extraction of stones
Dilation of strictures
Sphincterectomy
As well as gastric acid, what must the gastric lining be exposed to in order for a peptic ulcer to form?
Pepsin
What are the 2 strongest correlated risk factors for peptic ulcer disease?
H pylori
NSAID use
How can the history differentiate between gastric and duodenal ulcers?
Gastric: pain worst post-prandially
Duodenal: pain worst several hours post-prandially
What may be seen on an FBC that is abnormal in peptic ulcer disease?
Anaemia
What is the medical management of H pylori?
Triple therapy for 1-2 weeks:
PPI
Clarithromycin
Amoxicillin OR metronidazole
Define perineal abscess
Pus collection in perineal region
Define perineal fistula
Chronically infected tract connecting between perineal skin and anal canal
What is the cause of a perineal abscess or fistula?
Bacterial infection
Recall the symptoms of perineal abscess/fistula
Throbbing pain
Intermittent discharge
What is Goodsall’s law?
Law used to locate internal opening of a fistula based on where the external opening is:
If anterior to anal canal it runs radially and directly into the anal canal
If posterior to the anal canal, or >3cm away from rectum, it takes a curved path
What is the most useful form of imaging to investigate a perineal fistula?
MRI
What is the first line management of a perineal abscess?
Open drainage
Differentiate the management of high and low perineal fistulae
High: SETON inserted to allow drainage (as fistulotomy would cause incontinence)
Low: fistulotomy
What are the 3 different types of peritonitis?
Localised
Primary generalised
Secondary generalised
Recall 4 types of localised peritonitis
Appendicitis
Cholecystitis
Diverticulitis
Salpingitis
Differentiate between primary and secondary generalised peritonitis
Primary: rare, usually seen in adolescent females = bacterial infection without obvious cause
Secondary: bacterial translocation from localised focus for example a peptic ulcer rupture causing spillage of bowel contents
What is the standard medical treatment for SBP
Quinolone antibiotics (eg ciprofloxacin)
What is the surgical management of generalised peritonitis?
Laparotomy to remove necrotised tissue
Define pilonidal sinus
Abnormal epithelium-lined track, filled with hair, that opens onto skin surface, most commonly at the natal cleft
What is the pathophysiology of pilonidal sinus?
Shed hair penetrates the skin causing an inflammatory reaction
What is the management of pilonidal sinus
Incision and drainage
Define portal hypertension
High pressure within the hepatic portal vein
What pressure in the hepatic portal vein is clinically significant?
> 10mmHg
Recall 2 possible pre-hepatic causes of portal hypertension
Thrombosis of splenic/ portal vein
Extrinsic compression
Recall 3 possible hepatic causes of portal hypertension
Cirrhosis
Chronic hepatitis
Schistosomiasis
Recall 3 possible post-hepatic causes of portal hypertension
Blockage of hepatic vasculature
Right heart failure
Constrictive pericarditis
Give some examples of complications of portal hypertension
Ascites
Maleana
Haematemesis
Hepatic encephalopathy
Recall 2 signs that specifically indicate portal hypertension
Splenomegaly
Caput medusae
Why might a doppler ultrasound be helpful in portal hypertension
Can assess direction of blood flow
Where might a shunt be positioned to treat portal hypertension?
Between HPV and hepatic vein
Name the 2 autoimmune cholestatic liver diseases
Primary biliary cirrhosis
Primary sclerosing cholangitis
Differentiate which elements of the liver are damaged by PBC and PSC
PBC: small interlobular ducts
PSC: intralobular and extrahepatic ducts
Differentiate the immunoglobulins implicated in PBC and PSC
PBC: AMA, IgM
PSC: pANCA, AMSA, ANA
Recall a complication of both PBC and PSC
PBC: hypercholesterolaemia
PSC: stricture formation
Describe the symptoms of primary biliary cirrhosis
Insidious onset: fatigue, weight loss and fat-soluble vitamin deficiencies
Describe the symptoms of primary sclerosing cholangitis
Often those of IBD, as it often follows UC/Crohn’s
What is the key LFT result that indicates PBC/PSC?
High ALP and GGT
In which type of autoimmune cholestatic liver disease may anti-mitochondrial antibodies be present?
Primary biliary cirrhosis
How is a diagnosis of PBC/PSC confirmed?
Liver biopsy
What is the aetiology of rectal prolapse?
Straining
What might make a rectal prolapse an emergency?
If it is irreducible or strangulated
What is the main investigation to do for rectal prolapse?
Protosigmoidoscopy
Recall an immunoglobulin that is associated with ulcerative colitis?
pANCA
Which 2 ethnic groups are most likely to have ulcerative colitis?
Ashkenazi jews
Caucasians
Recall 4 extra-articular manifestations of IBD
Uveitis
Erythema nodosum
Scleritis
Aphthous ulcers
How may stool appear in IBD?
Bloody or mucousy
As well as signs of IBD and its extra-articular manifestations, what signs may be present in UC patients?
Signs of IDA as they aren’t absorbing iron
Describe the blood results in IBD
High CRP, ESR and WCC
Low FBC as anaemia
What blood test is done to differentiate IBS and IBD?
Faecal calprotectin
What investigations may be done to assess IBD severity?
Flexible sigmoidoscopy
What is the most useful medical management option for mild ulcerative colitis?
5-ASA analogues like mesalazine/olsalazine
What drugs may be added to 5-ASA analogues in more severe ulcerative colitis?
Immunosuppressants such as azothioprine/ steroids
Anti-TNF (infliximab)
In general, what class of immunoglobulin is produced in acute and chronic manifestations of hepatitis virus infection?
Acute: IgM
Chronic: IgG
Which types of viral hepatitis always follow an acute course?
A and E
Recall the route of transmission of each type of hepatitis
A&E - faeco-oral
B&D - sexual contact, bodily fluids, vertical
C - parenteral (sexual/vertical)
Describe the symptoms of viral hepatitis A/E infection
Often subclinical
May have prodromal malaise/ fever
May have dark urine with pale stool (as is liver infection)
NO STIGMATA of chronic liver disease
Recall the antibodies detectable on viral serology in the presence of viral hepatitis A/E infection?
Anti-HAV
Anti-HEV
Describe the course of viral hepatitis B/D infection
1-2 weeks of prodromal illness: malaise, anorexia, diarrhoea, nausea and vomiting, RUQ pain
Jaundice develops
Recovery period of 4-8 weeks
What immunoglobulin is detectable by viral serology in infection of viral hepatitis B/D?
HBcAg
Does hepatitis C tend to follow an acute or chronic course?
Chronic in 80%
Describe the pathophysiology of viral hepatitis infection?
The virus itself is not directly hepatotoxic - it is the immune response that lads to inflammatory damage
What are the symptoms of Hep C infection?
90% are asymptomatic
In what way are LFTs likely to be deranged in viral hepatitis?
Elevated AST and ALT
What are the 2 drugs of choice for treating chronic Hep C infection?
Interferon alpha
Ribavarin (anti-viral)
Define volvulus
Rotation of a loop of small bowel around the axis of its mesentery
Recall the relative proportion of cases of volvulus that affect each part of the large bowel
65% = sigmoid colon
30% = caecum
In neonates affects MIDGUT = volvulus neonatorum
Recall the 2 key symptoms of volvulus
Severe colicky pain
Absolute constipation
Describe the signs that may be seen in a case of volvulus
Signs of bowel obstruction with abdominal distention and tenderness
Tachycardia and pyrexia
Signs of dehydration
Which 2 investigations are most useful in suspected volvulus?
XR
Water-soluble contrast enema
What is the inheritance pattern of Wilson’s disease?
Autosomal recessive
Define Wilson’s disease
Reduced biliary excretion of copper
Where does copper tend to accumulate in Wilson’s disease?
In liver and brain, especially in the basal ganglia
Which gene is mutated in Wilson’s disease?
Copper-transporting ATPase
How does excess copper cause damage to the liver in Wilson’s disease?
Build-up of copper –> mitochondrial damage –> cell death –> copper released into plasma –> tissue deposition
Recall the symptoms of Wilson’s disease
Liver: jaundice, encephalopathy, easy bruising
Neurological: dysphagia, dyskinesia, dysphasia, dystonia
What is a specific sign that indicates Wilson’s disease?
“Sunflower cateract” due to copper deposition in eye
Recall the management of Wilson’s disease
Treat with copper chelators and oral zinc
Liver transplantation may be necessary