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Path: Liver 4 - Disease + Cirrhosis (ii) (Pathological effects of alcohol…
Path: Liver 4 - Disease + Cirrhosis (ii)
Presentation of alcohol-related liver damage
vague symptoms
found through screening or identified in @ risk pops
abnormal LFTs, fatty change/cirrhosis on US, abnormal transient elastography (FirbroScan)
acute episodes of alcohol hepatitis
decompensated cirrhosis
Hx
AUDIT/CAGE questionnaires
direct Qs
collat hx
hints (not specific or sensitive): raised gGT, elevated MCV
don't assume harmful/heavy drinking is the sole or even main cause - excl others
alcohol may interact with other causes of liver damage (HCV, HFE, paracetamol)
tx = abstinence
Pathological effects of alcohol abuse
alcohol-related liver disease
acute and/or chronic pancreatitis (acute from binge drinking)
gastritis, erosions, PUD, oesophageal tears from vomitting
increases risk of HTN + hypertensive (haemorrhagic) stroke
CNS disturbance (Wernicke-Korsakoff syndrome)
Wernicke's encephalopathy (thiamine deficiency) + Korsakoff psychosis
long term cerebellar or cortical atrophy
cognitive impairment
peripheral neuropathy
acute myopathy + long term muscle wasting
dilated CM
possible malnutrition, increased risk of infection (TB, lobar pneumonia)
increased risk of breast cancer
risk of trauma (head injury, fractures, RTA, suicide)
during pregnancy: foetal alcohol syndrome, poor birth outcomes (unlikely with v low dose)
NAFLD
spectrum of histological changes identical to alcohol-related liver disease
fatty change = most common manifestation by far
NASH present in a few
cirrhosis - common cause of previously cryptogenic cirrhosis (unknown origin)
abstinent or modest alcohol intake
typically a/w metabolic syndrome (v common)
a/w increased mortality, but mostly from CVD not liver disease
rate/risk of progression not clarified
host factors?
only a few progress
commonest presumptive dx in those sent for assessment to liver clinical with abnormal LFTs
assess activity/fibrosis
non-invasive methods preferable
ELF (enhanced liver fibrosis) blood test
FibroScan
avoid biopsy
Tx
weightloss
exercise
modify underlying metabolic syndrome risk factors
statins (they may increase transaminases but benefit outweighs risk)
Haemochromatosis
excessive iron deposition in tissues, causing damage
hereditary
progressive excessive absorption relative to need
specific gene defect in HFE gene (chromo 6p) in most patients (esp Ire)
rarely non-HFE gene associated hereditary haemochromatosis
secondary haemochromatosis = secondary to iron overload
caused by multiple transfusions, ineffective erythropoiesis a/w hereditary anaemias (e.g. thalassaemia - rare in Ire)
toxic iron deposition
liver (fibrosis + cirrhosis)
endocrine pancreas (secondary DM)
myocardium (dilated CM)
ant pituitary (secondary hypogonadism + impotence)
arthropathy
fatigue (most common symptom but not specific)
skin hyperpigmentation ("bronze diabetes") - overstim of melanocytes
symptoms rare in under 40s
men present before women (women more prone to anaemia)
Dx
biochemical iron overload
high % saturation of transferrin/total iron bind capacity (>55% = significant)
ferritin sensitive but less specific (acute phase reactant, rise can be a/w inflamm) - good to use for followup
hereditary haemochromatosis excluded if transferrin sat <45% + ferritin normal
genetic testing (HFE) if abnormal iron storage status confirmed
liver biopsy rare (occasionally for dx/staging)
Perls' stain used to highlight haemosiderin (blue deposits) - indicates massive overload
tx = venepuncture (safe + easy)
Genetics
AR
traditionally thought to be rare, but increasing recognition
2 mutations: C282Y + H63D
most cases are homozygotes
60% of compound C282Y + H63D heterozygotes @ risk
biochem overload more common than clinical disease
variable penetrance of genetic trait (mostly in males)
screen 1st degree relatives if mutation identified