metabolic disorders (affecting the liver) Flashcards
Haemachromatosis, Wilson's, and alpha1-antitrypsin deficiency.
risk factors for Wilson’s disease
genetic - autosomal recessive
pathology of Wilson’s disease
abnormal copper transporting ATP-ase –> decreased copper biliary excretion and build up of copper in the liver
signs and symptoms of Wilson’s disease
tremor dysarthria dysphagia dyskinesias dystonias parkinsonism (basal ganglia affected) depression dementia Kaiser-Fleischer rings grey skin arthritis hyper mobility of joints blue lunulae on nails
diagnosis of Wilson’s disease
genetic testing urine - 24hr copper excretion bloods (LFT up, ceruloplasmin down) liver biopsy MRI
treatment of Wilson’s disease
avoid copper rich diet
penicillamine (forms a soluble complex with copper –> urine excretion)
zinc - causes decreased absorption of copper
transplantation if needed
risk factors for haemachromatosis
too much iron
HFE gene
autosomal recessive inheritance
pathology of haemachromatosis
uncontrolled intestinal absorption of iron –> deposition in major organs
signs and symptoms of haemachromatosis
arthralgia hepatomegaly cardiomyopathy diabetes hypogonadism bronze skin pigmentation fatigue weight loss
diagnosis of haemachromatosis
bloods - increased ferritin and transferrin saturation >45%
Perl’s stain of liver biopsy
treatment of haemachromatosis
venesection and low iron diet
risk factors for alpha1-antitrypsin deficiency
chromosome 14 mutation
smoking (deactivates alpha1-antitrypsin)
complications of alpha1-antitrypsin deficiency
cirrhosis
hepatocellular carcinoma
emphysema
(lots more)
diagnosis of alpha1-antitrypsin deficiency
serum alpha1-antitrypsin
liver biopsy - PAS stain
treatment of alpha1-antitrypsin deficiency
smoking cessation
liver transplantation
