Gastrointestinal conditions 3 Flashcards
Final part of GI conditions
What is Peptic ulcer disease?
A break in the mucosal lining of the stomach or duodenum more than 5mm in diameter, with depth to submucosa
What causes Peptic ulcer disease?
Imbalance between the damaging action of acid and pepsin and protective mechanisms
2 major aetological factors - H. Pylori or NSAID overuse
Most common causes: H. Pylori, NSAIDs, Alcohol, Bisphosphonates, Smoking
Rare causes: Zollinger-Ellison syndrome (Gastrin-secreting tumour)
What are the Risk Factors for Peptic ulcer disease?
Helicobacter Pylori infection NSAID use Smoking Increasing age Personal history Family history Patient in intensive care
What are the symptoms of Peptic ulcer disease?
Abdominal pain (Epigastric tenderness) Nausea Vomiting Weight loss Anorexia Diarrhoea Anaemia
What are the signs of Peptic ulcer disease?
GI bleeding
Hypotensive or septic shock
Succussion splash
What are the investigations for Peptic ulcer disease?
if <55 and no red flags - H pylori breath test/stool antigen test - FBC - Stool occult blood test - Serum Gastrin if >55 or red flags present - Upper GI endoscopy + biopsy - If ulcer present: Repeat endoscopy 6-8 weeks FBC Serum amylase Clotting screen LFT Urea breath test for H. Pylori Blood antibody test
How do you manage Peptic ulcer disease?
Acute: Fluids/Resuscitation needed if ulcer is perforated or bleeding Close monitoring of vital signs Endoscopy Surgical treatment Endoscopy: - If Ulcer is bleeding, haemostasis with: Injection sclerotherapy, laser coagulation, electrocoagulation Surgery: if perforated
What are complications of peptic ulcer disease?
Perforation
Gastric outlet obstruction
Upper GI bleeding
Perforation
What is a Perianal abscess?
A pus collection in the perianal region
What is a perianal fistula?
An abnormal chronically infected tract communicating between the perineal skin and either the anal canal or the rectum
What causes perianal abscesses/fistulae?
Bacterial infection
Fistulae develops as a complication of an abscess
Fistulae can develop as a complication of Crohn’s disease
What are the Risk factors for perianal abscesses and fistulae?
IBD Diabetes Mellitus Malignancy MSM (men who have sex with men) Immunocompromised Crohns/diverticular disease 20-60 years old Male sex
What are the symptoms of Perianal abscesses and fistulae?
Painful, hardened tissue in the perianal area Pus discharge from rectum Lump or nodule Tenderness at edge of anus Fever Constipation Pain with bowel movements Constant and throbbing pain while sat down
What are signs of perianal abscesses and fistulae?
Seen on rectal exam
Swollen, red, tender lumps at edge of anus
What investigations are done for perianal abscesses and fistulae?
DRE usually normal
STD screening
Proctosigmoidoscopy
performed to exclude associated diagnoses
Transperitoneal US may be a useful adjunct
How do you manage Perianal abscesses and fistulae?
Prompt drainage
Medication for pain relief
ABx not needed unless diabetic or immunosuppressed
Probe is inserted to explore fistulae
Dye inserted into external opening to allow you to find the internal opening
Low fistula - fistuloltomy
High fistula - seton
What are the complications of perianal abscesses and fistulae?
Recurrence
Damage to internal anal sphincter
Incontinence
Persisting pain
What is Peritonitis?
Inflammation of the peritoneal lining of the abdominal cavity. It can be localised to one part of the peritoneum or generalised
What are the types of Peritonitis?
Localised
Primary generalised
Secondary generalised
Primary
What causes localised peritonitis?
Appendicitis
Cholecystitis
DIverticulitis
Salpingitis
What causes Primary generalised peritonitis?
Bacterial infection of the peritoneal cavity without an obvious source
What causes Secondary generalised peritonitis?
Caused by bacterial translocation from a localised focus
Could be non-bacterial due to spillage of bowel contents, bile and blood
What are the risk factors for peritonitis?
Ascites
Nephrotic syndrome
What are the symptoms of Peritonitis?
Usually continuous, sharp, localised exacerbated by movement and coughing
May be vague in those with liver disease and ascites (due to confusion)
What are the signs of peritonitis?
Check vitals and look for signs of dehydration or compromised perfusion Localised peritonitis (Tenderness on exam, Guarding, Rebound tenderness) Generalised peritonitis (Very unwell, Systemic signs of toxaemia, lie still, shallow breathing, rigid abdomen)
What blood tests are done for Peritonitis?
FBC LFT U&E Amylase Clotting Blood culture Pregnancy test ABG
What other tests are done for Peritonitis?
Erect CXR (Check for perforation) AXR (Obstruction) USS or CT abdomen Laparoscopy If ascites - ascitic tap
How do you manage localised peritonitis?
Depends on cause
Some may need surgery and some are treated with antibiotics
How do you manage generalised peritonitis?
Risk of death from sepsis or shock IV Fluids IV Abx Urinary catheter NG tube Central venous line Laparotomy Primary peritonitis
How do you treat SBP?
Quinolone antibiotics
- OR -
Cefuroxime + Metronidazole
What are the complications of Peritonitis?
Early - Septic shock - Respiratory failure - Multiorgan failure - Paralytic ileus - Wound infection - Abscesses Late - Incisional hernia - Adhesions
What is a pilonidal sinus?
Forceful insertion of hairs into the skin of the natal cleft in the sacrococcygeal area. This promotes a chronic inflammatory reaction, causing an epithilialised sinus.
What causes a pilonidal sinus?
Hair in the natal cleft
More common in hairy people
Ingrowing of hairs excites a foreign body inflammatory reaction and may cause secondary tracks to open laterally +/- abscesses with foul-smelling discharge
What are Risk Factors for Pilonidal sinus?
Male 16-40 Family history Stiff hair Hirsutism
What are symptoms of Pilonidal sinus?
Painful natal cleft
Discharging swelling
Often recurrent
What are the signs of pilonidal sinus?
Midline openings or pits between the buttocks
Hairs may protrude from the swelling
If infection or abscess, swelling will become tender
May be fluctuant and discharge pus or blood-stained fluid on compression
What are the investigations for Pilonidal Sinus?
None needed
Bloods (Sign of infection)
- Leucocytosis
- Fasting glucose (Diabetics at risk)
What is the management of Pilonidal sinus?
Pre-op antibiotics
Acute pilonidal abscess (incision and drainage)
Chronic pilonidal sinus (Excision under GA with exploration)
Prevention (Good hygiene and shaving)
What are the complications of Pilonidal sinus?
Pain
Infection
Abscess
Recurrence
What is Portal Hypertension?
Abnormally high pressure within the hepatic portal vein
- Hepatic venous pressure >10mmHg
What causes portal hypertension?
Cirrhosis is the most common cause
Collagen deposition and fibrosis
Sodium retention and vasoactive substances such as NO
3 categories:
Pre-Hepatic
Hepaitc
Post-Hepatic
What are pre-hepatic causes of portal hypertension?
Blockage of portal vein before the liver
- Congenital stenosis
- Portal vein thrombosis
- Splenic vein thrombosis
- Extrinsic compression
What are hepatic causes of portal hypertension?
Cirrhosis Chronic hepatitis Schistosomiasis Granulomata Myeloproliferative disorder
What are post-hepatic causes of portal hypertension?
Blockage of hepatic veins or venules
- Budd-Chiari syndrome
- Constrictive pericarditis
- Right Heart failure
What are the Risk Factors for Portal hypertension? (Same as cirrhosis)
Alcoholic liver disease Hepatitis C/B Continued alcohol consumption increases rate of progression of cirrhosis from any cause Male Older age Hypertension Hyperlipidaemia
What are the symptoms of Portal hypertension?
Jaundice History of alcohol abuse Risk for Viral hepatitis Family history (e.g. Haemochromatosis) Haematemesis/melaena Lethargy, irritability, chenges in sleep Abdominal distention Abdominal pain and fever Pulmonary involvement
What are the signs of portal hypertension?
Caput medusae Splenomegaly Ascites Jaundice Spider naevi Palmar erythema Gynaecomastia Testicular atrophy
What investigations are done for Portal Hypertension?
LFTs U&Es Blood glucose FBC Clotting screen (Prolongation of PT in liver failure) Ferriting Hepatitis serology Autoantibodies (ASMA in AI hep) Alpha1-antitrypsin Ceruloplasmin Abdominal sultrasound Doppler ultrasound Hepatic venous pressure
How do you manage Portal hypertension?
Telipressin and prophylactic antibiotic
Endoscopy in 12hrs, treat with Band ligation or Injection sclerotherapy
IF not enough, TIPS
Liver transplant most curative
Beta blockers for prophylaxis of variceal bleed
What are the complications of Portal hypertension?
Bleeding from oesophageal varices
Ascites + complications (SBP, Hepatorenal syndrome, hepatic hydrothorax)
Pulmonary complications (Hepatopulmonary syndrome)
Liver failure
Hepatic encephalopathy
Cirrhotic cardiomyopathy
What is the triad of Hepatopulmonary syndrome?
Hepatic dysfunction Hypoxaemia Extreme vasodilation (Intrapulmonary vascular dilatation)
What is Primary Billiary cirrhosis?
AI chronic inflammatory liver disease involving progressive destruction of intrahepatic bile ducts, leading to cholestasis, and ultimately, cirrhosis
What causes primary biliary cirrhosis?
AI disease
Environmentally triggered in those predisposed
High concordance in twins
Strong Family histories
Characterised by chronic AI granulomatous inflammation which leads to fibrosis, cirrhosis and portal HTN
What are the Risk Factors for Primary biliary cirrhosis?
Women
45-55
Northern European descent
Family history
What are the symptoms of Primary Biliary cirrhosis?
Incidental finding (Raised ALP)
Vague symptoms (Fatigue, weight loss, pruritus)
Discomfort in RUQ
Complication of liver decompensation
May present with assocaited symptoms (e.g. Sjorgen’s syndrome, arthritis, raynaud’s phenomenom)
What are the Signs of Primary Biliary cirrhosis?
Early - no signs Late - Jaundice - Skin pigmentation - Scratch marks - Xanthomas - Hepatosplenomegaly - Ascites - Signs of chronic liver disease
What are the investigations for PBC?
LFT (High ALP + GGT, Raised bilirubin, Low albumin, High PT time)
Clotting: Prolongation of PT
Antimitochondrial antibodies (AMAs hallmark of PBC)
High IgM
High cholesterol
TFTs
US (Exclude gallstones)
What is Primary sclerosing cholangitis?
A chronic cholestatic liver disease chatacterised by progressive periductal or intrahepatic and extrahepatic bile ducts, leading to reactive proliferation and fibrosis, and eventually cirrhosis
What causes primary sclerosing cholangitis?
Periductal inflammation with peridcutal concentric fibrosis Portal oedema Bile duct proliferation Expansion of portal tracts Progressive fibrosis Development of biliary cirrhosis
What are the Risk factors for Primary sclerosing cholangitis?
Male
IBD
Genetic predisposition
What are the symptoms of Primary sclerosing cholangitis?
Asymptomatic, diagnosed after persistent ALP Present with: - Intermittent jaundice - Pruritis - RUQ pain - Weight loss - Fatigue
What are the signs of Primary sclerosing cholangitis?
No signs Jaundice Hepatosplenomegaly Spider naevi Palmar erythema Ascites
What are the investigations for Primary sclerosing cholangitis?
LFT (High ALP, mildly elevated ALT+ AST, low albumin + high bilirubin)
Serology (IgG high in kids, IgM high in adults, ASMA and ANA in 30%, pANCA in 70%)
ERCP - beaded appearance
LIver biopsy (Fibrosis, obliterative cholangitis)
What is a Rectal prolapse?
Abnormal protrusion of the full thickness (Or only the mucosal layer) of rectum through the anus
What causes a rectal prolapse?
Straining
Abnormal rectal anatomy or physiology (e.g. Pelvic floor weakness, poor fixation of rectum or reduced anal sphincter pressure)
What are the Risk Factors for rectal prolapse?
Constipation Cause of increased straining Cystic fibrosis (Children) Previous trauma to the anus/perineum Neurological conditions (e.g. Cauda equina syndrome, MS)
What are the symptoms of Rectal prolapse?
Protruding anal mass Initially with defecation May need digital replacement Constipation Faecal incontinence - in 75% PR mucous or bleeding Emergency! (Irreducible or strangulated)
What are the signs of Rectal prolapse?
Prolapse may be seen on straining
May be ulcerated or necrotic if vascular supply is compromised
Reduced anal sphincter tone
What investigations can be done for Rectal prolapse?
Proctosigmoidoscopy Defecating proctogram or barium enema Anal sphincter manometry Pudendal nerve studies Sweat chloride test (test for CF - >30)
What is Viral Hepatitis?
Viruses, formed of 6 different types
Other can infect liver include: CMV, EBV, yellow fever and Herpes
What are the 6 types of Viral hepatitis?
A B C D E G
Which of the Hepatitis’ viruses are RNA viruses?
Hepatitis A and E
What is the incubation period for HAV/HEV?
3-6 weeks
What conditions do Picornavirus and Calicivirus cause?
Picornavirus - HAV
Calicivirus - HEV
What are the Risk Factors for Hepatitis A infection?
Living in endemic regions
Close personal contact with an infected person
MSM
Known food-borne outbreak
International travel
Illicit drug use
Contact with a child or employee in a childcare centre
How are HAV/HEV transmitted?
Faecal-oral route
What are the presenting symptoms of Hepatitis A/E?
Prodromal period - Malaise - Anorexia - Fever - Nausea and vomiting Hepatitis symptoms: - Dark Urine - Pale stools - Jaundice aroudn 3 weeks - Occasionally itching and jaundice last several weeks in HAV infection
What are the signs of Hepatitis A/E?
Pyrexia Jaundice Tender hepatomegaly Spleen may be palpable Absence of chronic liver disease (Some spider naevi appear transiently)
What investigations are done for Hep A/E?
LFTs (High AST, ALP, ALT and bilirubin) High ESR Low Albumin + High platelets Hep B and C serology Hep A - IgM (acute), IgG (recovery phase) Hep E - IgM (Raised), igG Urinalsysis (Bilirubin, urobilinogen)
What is the management of Hep A/E?
No specific management other than bed rest and symptomatic treatment
Prevention and control (notifiable disease)
What are the complications of Hep A/E?
Fulminant hepatic failure
Cholestatic hepatitis
Post-hepatitis syndrome
What is the prognosis of someone with Hep A/E?
Recovery 3-6 weeks
May relapse in recovery
No chronic sequelae
Fulminant hepatic failure has mortality of 80%
What is Hepatitis D?
A defective virus that may co-infect with HBV or superinfect people who already carry HBV
What type of virus is HBV?
Acute or chronic condition caused by a partial dsDNA virus
How is HBV transmitted?
Sexual contact
Blood
Vertical transmission
What type of virus is HDV?
ssRNA coated with HBsAg
What are the Risk Factors for HBV?
Living In endemic regions Close personal contact with an infected person MSM Known food-borne outbreak International travel Illicit drug use Contact with a child or employee in a childcare centre Infants of HBEAg/HBsAg
What are the symptoms of HBV?
Incubation period: 3-6 months 1-2 week prodrome - Malaise - Headache - Anorexia - Nausea and Vomiting - Diarrhoea - RUQ pain - Serum sickness type illness may develop Jaundice Recovery 4-8 weeks later Chronic carriage may be diagnosed after routine LFT testing
What are the acute signs of HBV?
Jaundice Pyrexia Tender hepatomegaly Splenomegaly Cervical lymphadenopathy Occasionally: Urticaria and Maculopapular rash
What are the chronic signs of HBV?
May be no findings
May have signs of chronic liver disease or decompensation
What investigations are done fro HBV?
Viral serology
LFTs (High AST, ALT, ALP, bilirubin)
High PT
Liver Biopsy
What is seen on Viral serology for acute HBV infection?
HBsAg positive
IgM anti-HBsAg negative
+/- HBeAg
What is seen on Viral serology for chronic HBV infection?
HBsAg Positive
IgG Anti-HBcAg
+/- HBeAg (correlates with severity)
What is seen on Viral serology for HBV cleared?
Anti-HBsAg antibody positive
IgG anti-HBcAg
What is seen on Viral serology for HBV vaccinated?
HBsAg positive
What is seen on Viral serology for HDV infection?
Detested by IgM or IgG against HDV
PCR used to detect HDV
How do you manage HBV infections?
Prevention: Blood screening, safe sec, instrument sterilisation
Passive immunisation
Active immunisation
Symptomatic treatment
Indications for antiviral treatment (Interferon alpha > Nucleoside/nucleotide analogues)
What are indications for antiviral treatment?
HBeAg positive
Or negative with signs of chronic hepatitis
Compensated cirrhosis
Decompensated cirrhosis
What is HCV?
A hepatitis C infection, often following a chronic course
What type of Virus is hepatitis C?
Ss-RNA
How is HCV transmitted?
Transmitted by percutaneous blood exposure
Sexual activity, perinatally, intranasal drug activity or accidental blood contact
What does liver biopsy show?
Chronic hepatitis IV or intranasal drug use Blood transfusion or organ transplant Birth between 1945 and 1965 Heavy alcohol use IL-28 gene polymorphism HIV Incarceration/institutionalism Haemodialysis Healthcare work Tattoos Multiple sex partners Infected mother Male sex
What are the symptoms of HCV
90% of infections are asymptomatic
10% become jaundiced with mild flu-like illness
May be diagnosed after incidental abnormal LFT or in older patients with complications of cirrhosis
What are the signs of HCV?
No signs
May be signs of chronic liver disease
Extrahepatic manifestations (Skin rash, Renal dysfunction due to glomerulonephritis)
What are the investigations of HCV?
HCV serology (Anti HCV antibodies - IgM + IgG (acute), IgG (Chronic)) Reverse transcriptase PCR LFT (Acute: High ALT, AST and bilirubin Chronic: 2-8x AST+ALT) Liver Biopsy (Diagnose cirrhosis)
What is the management of HCV?
Prevention
- Screen blood, blood products and organ donors
- Needle exchange schemes for IV drug users
- Instrument sterilisation
- No vaccine available
Medical
- Acute (mainly supportive)
- Chronic (Pegylated interferon alpha, Ribavirin)
Duration: HCV 1/4 - 24-48 weeks; HCV 2/3 - 12-24 weeks
What are the complications of HCV?
Fulminant hepatic failure
Chronic carriage of HCV
Hepatocellular carcinoma
Less common Prophyria cutanea tarda, cryoglobulinaemia, glomerulonephritis
What is Vitamin A deficiency?
A condition that causes Xerophthalmia (ocular manifestations)
What is the cause of Vitamin A deficiency?
Inadequate intake
Fat malabsorption
What is Xerophthalmia?
Dryness of conjunctiva and cornea of eye with inflammation and ridge formation
What are the Risk factors for Vitamin A deficiency?
Diet mainly consisting of rice
What are the signs and symptoms of vitamin A deficiency?
Night blindness progressing to complete blindness
Dry/Dull/thick conjunctival xerosis and corneal xerosis
Drying/Scaling of skin
What investigations are done for Vitamin deficiencies?
A:Eye tests and serum retinol binding protein B: Clinical diagnosis C: Clinical diagnosis D: Low calcium, phosphate, vit D and raised ALP LOoser's xones and osteopenia on CXR E: Clinical diagnosis K: Increased PT time
How do you manage vitamin deficiencies?
Supplements - in Vit. D treat underlying cause Vit A - supplements Vit B - Pabrinex Vit C (Ascorbic acid) Vit D (Treat underlying cause) Vit E / K (supplements)
What are the complications of Vitamin deficiencies?
A:Blindness and Respiratory infections B: Wernicke's encephalopathy C: Scurby D: Bone deformities and calcium deficiency E: Visual loss and weakness K: Anaemia
What is caused by Vitamin B1 deficiency?
Beri beri - leading to Wernicke’s encephalopathy
Can be: Dry - nervous system involvement
Wet - Cardiovascular involvement
What is caused by Vitamin B2 (Riboflavin) deficiency?
Angular stomatitis, Cheilitis
What is caused by Vitamin B6 (pyridoxine) deficiency?
Polyneuropathy
What is caused by Vitamin C deficiency?
Scurvy
What is caused by vitamin D deficiency?
Rickets / Osteomalacia
What is caused by Vitamin E deficiency?
Haemolysis
Neurological deficit
What is caused by Vitamin K deficiency?
Bleeding disorders
Who are the vitamin deficiencies common in?
A: Southern/east asian people B: Alcoholics C: Pregnancies D: MEDC's and women E: Very rare K: Rare but not as rare in infants
What are the risk factors of general vitamin B deficiencies?
Increased tea/coffee/rice consumption
Alcoholism/Starvation/Vomiting/GI surgery
What are the Risk Factors for Vitamin C deficiency?
Pregnancy
What are the Risk Factors for Vitamin D deficiency?
Lack of sunlight
CKD
Vitamin D resistance
What are the Risk factors for vitamin E deficiency?
Cystic fibrosis/chronic cholestatic hepatobiliary diseae/short bowel syndrome
Abetalipproteinaemia
What are the Risk factors for Vitamin K deficiency?
Anticoagulatns
Antibiotics that interfere with Vit K absorption
Infants with low Vit K breast milk
What are the symptoms and signs of Vitamin B deficiency?
B1 Dry: Numbness, confusion, difficulty moving legs, pain Wet: Palpitations, SOB, Oedema B2 Angular stomatitis B6 Polyneuropathy
What are the signs and symptoms of vitamin c deficiency?
Fatigues Weakness Cachexia Gingivitis Bleeding gums Halitosis petechiae/rash
What are the signs and symptoms of Vitamin D deficiency/
Rickets: Hypotonia, Short, bow legs and bossing of frontal/parietal bones
Osteomalacia: Bone pain, weakness and malaise - can cause trousseauchvostek sign
What are the signs and symptoms of Vitamin E deficiency?
Weakness Hyporeflexia Ataxia Loss of vibrational sense Visual field decline
What are the signs and symptoms of Vitamin K deficiency?
Ecchymosis
melaena
Epistaxis
What occurs in people who are Calcium deficient?
CATs go Numb Confusion Arrhythima Tetany Numbness
What is tetany?
intermittent Muscular spasms caused by calcium deficiencies
What is Vitamin B12/Folate deficiency?
Having insufficient vitamin B12/Folate
What causes Vitamin B12 deficiency?
B12 found in meats and animal protein food Pernicious anaemia common cause Veganism Gastrectomy Drugs (Colchicine, metformin)
What causes folate deficiency?
Found in vegetables /fruit
Caused by: Decreased dietary intakes / decreased absorption
What are the Risk factors for B12 deficiency?
Low dietary intake
Drugs: Metformin, H2 antagonism/PPI
Malabsorption (Coeliac, crohns, IBD, surgery, disease)
What are the Risk Factors for Folate deficiency?
Low dietary intake Drugs: Trimethoprim, methotrexate, sulfasalazine Malabsorption (IBD, Coeliac, congenital) Alcoholism Pregnancy Prematurity
What are the symptoms of B12 deficiency?
Typical anaemia (Fatigue, lethargy, dyspnoea, faintness, palpiataions, headaches) Neurological symptoms ( paraesthesia, numbness, congnitive changes)
What are the symptoms of Folate deficiency?
Very few unless pregnant
General anaemia symptoms
What are the signs of Vitamin B12 deficiency?
Pallor
Heart failure (severe anaemia)
Glossitis
Angular stomatitis
Neuropsychiatric: Irritability, dementia, depression
Neurological: Subacute combined degeneration of the spinal cord, peripheral neuropathy
What investigations are done for diagnosing Vitamin B12 deficiency?
Measure serum B12 Blood film (Hypersegmented neutrophils, Oval macrocytes, circulating megaloblasts) Pernicious anaemia tests (anti-intrinsic factor antibodies, anti-parietal cell antbodies, Schilling test - specific for B12)
What is a volvulus?
Malrotation of a loop of bowel around the axis of its mesentry that results in bowel obstruction and potential ischaemia
What are the types of volvulus?
Sigmoid (65%)
Caecal (30%)
Volvulus neonatum - in neonates typically affects midgut
What are the risk factors for a volvulus?
Malrotation - neonatal Enlarged colon Hirschprung disease Pregnancy Abdominal adhesions Chronic constipaiton Increased fibre diet
What are the symptoms of a volvulus?
Severe colicky abdominal pain and swelling Absolute constipation Vomiting May be history of TIAs Neonatal volvulus is aorund 3months
What are the signs of a volvulus?
Signs of bowel obstruction with distention and tenderness - Absent or tinkling bowel sounds fever tachycardia signs of dehydration
What investigations are done in volvulus?
Abdominal X-ray - Coffee bean sign (sigmoid) or embryonic sign (caecal)
Erect CXR ( Check for perforation)
Water-soluble contract enema
CT scan
What is Wilson’s disease?
An autosomal recessive disorder characterised by reduced biliary excretion of copper and accumulation of copper in the liver and brain, especially in the basal ganlis
Also known as hepatolenticular degeneration
What causes wilson’s disease?
Mutation in Chromosome 13 codes for ATP7B in hepatocytes
Interferes with transport of copper into the intracellular compartments for incorporation into ceruloplasmin
Excess copper damages hepatocyte mitchochondira, leading to cell death and release of copper
This copper depostis in tissues and imparis funciton
What are the Hepatic symptoms of Wilson’s disease?
Hepatitis, Liver failure, cirrhosis May also be: - Jaundice - Easy bruising - Variceal bleeding - Encephalopathy
What are the Neurological symptoms of wilson’s disease?
Dyskinesia Rigidity Tremor Dystonia Dysarthria Dysphagia Drooling Dementia Ataxia
What are the Psychiatric symptoms of Wilson’s disease?
Conduct disorder
Personality change
Psychosis
What are the signs of Wilson’s disease?
Hepatosplenomegaly Jaundice Ascites/oedema Gynaecomastia Kayser-Fleisher rings (Slit lamp) Sunflower cataract (Slit lamp)
What investigations are done for suspected wilson’s disease?
LFTs (High AST, high ALT, High ALP)
Serum caeruloplasmin (low) - is an acute phase protein so may give false negative
Serum copper - raised
24hr copper levesl - increased
LIver biopsy - copper content
Genetic analysis - wilsons
MRI - degeneration in basal ganglia, fronto-temporal, cerebellar, brainstem
