GI Flashcards
(214 cards)
What is haemochromatosis?
An iron storage disorder- deposition of iron in tissues
What is the inheritance of haemochromatosis?
Autosomal recessive mutation on the HFE gene on chromosome 6
When does haemochromatosis usually present?
Age > 40
later in females
Presentation of haemochromatosis
Chronic tiredness, joint pain, pigmentation (bronze), hair loss, ED, amenorrhoea, memory and mood problems
Investigations in haemochromatosis
High serum ferritin, transferrin saturation
Liver biopsy with Perl’s stain- iron concentration in parenchymal cells
Genetic testing
CT/MRI for iron deposits
Management of haemochromatosis
Venesection
Complications of haemochromatosis
- Type 1 diabetes
- Liver cirrhosis, HCC
- Cardiomyopathy
- Iron in pituitary + gonads- hypogonadism, infertility
- Hypothyroidism
- Pseudogout
What is Wilson’s disease?
Excessive accumulation of copper in the body
What is the pattern of inheritance of Wilson’s disease?
Autosomal recessive
Mutation of ‘Wilson disease protein’ on chromosome 13
Clinical features of Wilson’s disease
Hepatic- chronic hepatitis, liver cirrhosis
CNS- dysarthria, dystonia, Parkinsonism, depression, psychosis
Kayser-Fleischer rings
Haemolytic anaemia, renal tubular acidosis, osteopenia
What can be seen in the eyes in Wilson’s disease?
Kayser-Fleischer rings
Investigations in Wilson’s disease
Serum caeruloplasmin
24hr urine copper assay
Liver biopsy
Management of Wilson’s disease
Copper chelation- Penicillamine, Trientene
What is the aetiology of Alpha-1-Antitrypsin deficiency?
A1AT inhibits neutrophil elastase –> excessive protease enzymes –> liver cirrhosis and lung disease
What is the inheritance pattern of Alpha-1-Antitrypsin deficiency?
Autosomal recessive defect on chromosome 14
What are the 2 key clinical features in Alpha-1-Antitrypsin deficiency?
Liver cirrhosis
Pulmonary basal emphysema
What is found on liver biopsy in Alpha-1-Antitrypsin deficiency?
Acid-Schiff positive staining globules
Management of Alpha-1-Antitrypsin deficiency
Stop smoking
Manage symptoms
Organ transplant
What is the aetiology of Primary Biliary Cirrhosis?
Immune system attacks small bile ducts –> cholestasis –> fibrosis –> cirrhosis –> liver failure
–> decreased excretion of bile acids, bilirubin and cholesterol
Clinical features of Primary Biliary Cirrhosis
- Bile acids cause jaundice
- Bilirubin causes jaundice
- Cholesterol causes xanthelasma + CV disease
- GI disturbance, malabsorption, greasy stools
- Cirrhosis- ascites, splenomegaly, spider naevi
Investigations in Primary Biliary Cirrhosis
Raised ALP
Antimitochondrial antibodies
Liver biopsy to diagnose and stain
Management of Primary Biliary Cirrhosis
Ursodeoxycholic acid- reduces absorption of cholesterol
Cholestyramine- reduces absorption of bile acids
Liver transplant
Immunosuppression
What is the aetiology of Primary Sclerosing Cholangitis?
Intrahepatic/Extrahepatic ducts become strictured/fibrotic
- -> Obstruction to flow of bile out of liver and into intestines
- -> Hepatitis, Cirrhosis + Fibrosis
Risk factors for Primary Sclerosing Cholangitis
Ulcerative colitis
Male
Age 30-40
FH