Examination technique

Chronic Liver Disease +/- Acute Liver Failure

I reviewed Mr RA, a 64 year old gentleman who presented with jaundice (repeat the stem back) who I believe has chronic liver disease secondary to alcohol intoxication (offer an aetiology if sure). To support my diagnosis (repeat positive findings), the most pertinent findings on examination include the presence of leukonychia, palmar erythema, dupytren's contracture, asterixis with evidence of hepatic encephalopathy, >5 spider naevi in the distribution of the superior vena cava, parotidomegaly, gynecomastia, splenomegaly and ascites - as evidenced by the presence of shifting dullness. My findings in detail are (detail all the findings): the patient was comfortable at rest, lying in bed. He was not oriented to time or place and there was evidence of asterixis. There was evidence of leukonychia and palmar erythema without clubbing. There was no blistering skin reactions, pruritis, track marks or ecchymoses. Examination of the face revealed mild scleral icteris without kayser-fleischer rings. There was no evidence of a hyperkinetic movement disorder. There was no xanthalesma or fetor-hepaticus. Spider naevi were observed, as well as gynecomastia. Examination of the abdomen revealed a distended abdomen with presence of caput medusae. Hepatomegaly was not observed, however there was the presence of splenomegaly, appreciated towards the midline. Shifting dullness was observed. There was evidence of pitting oedema. Further examination revealed a sensory symmetrical peripheral neuropathy. These findings are in keeping with decompensated chronic liver disease with evidence of portal hypertension, and given the parotidomegaly and peripheral sensory neuropathy, I believe the likely aetiology is secondary to alcohol abuse. 
Hand Examination
  • Finger clubbing (not specific)
  • Leukonychia (due to hypoalbuminaemia) - also known as terry's nails
  • Azure lunnula: sign of wilsons disese, silver poisoning --> Here the lunulae are not white, but bluish
  • Palmar erythema
  • Dupuytren's contracture
  • Asterixis 
  • Iron salute sign of the MCP's --> sign of arthritic involvement of 2nd and 3rd MCP joint in haemochromatosis
Examination of the arms
  • Cachexia --> reduced triceps skin fold thickness
  • pruritic excoriations --> PBC/ PSC secondary to deposition of bile salts and cholestatic state
  • ecchymoses secondary to coagulopathic state
  • tatoos
  • track marks
  • PICC line for TPN
  • Blisters secondary to porphyria cutanea tarda which may be associated with alcoholic liver disease (or Hep C)
  • Bronzed pigmentation of PBC (normally pts start yellow then they turn a green-brown colour), haemochromatosis (slatey-brown pigmentation)
Examination of the face
  • Jaundice, usually not seen until serum bilirubin >40uM
  • xanthelesma in PBC
  • Kayser-fleischer rings
  • conjunctival pallor --> most sensitive finding for anaemia
  • parotidomegaly --> alcohol abuse, sjogren's syndrome, IgG4 disease, sarcoidosis, mumps
  • fetor hepaticus
Examination of the chest
  • Spider naevi >3 in males, >5 in females, reflects increased esotrodiol:free testosterone ratio
  • gynecomastia in males
Examination of the abdomen
  • Visualise hepatosplenomegaly
  • Caput medusae
  • Paraumbilical hernias
  • Scars of abdominal incision, especially that of Orthotopic liver transplantation
  • Light palpation --> RUQ tenderness in acute hepatic failure with capsular distension, or cholecystitis, choledocholethiasis, cholangitis, biliary colic
  • Hepatomegaly --> not a significant discriminator
  • Splenomegaly --> spleen is not felt in health and is only palpable once it has enlarged 3 - 4 times normal size
  • Shifting dullness
  • Auscultation for venous hum of portal hypetension, hepatic arterial bruit of hepatocellular carcinoma and alcoholic hepatitis
Examination of the legs
  • Pitting oedema
  • Peripheral sensory neuropathy due to alcoholic liver disease
Examination of the chest
  • ​Looking for evidence of RV failure and signs of hepatic congestion as the cause of cirrhosis

Hereditary Haemmorhagic Telangiectasia (HHT)

  • Multiple telangiectases on face, around mouth, lip, tongue, buccal and nasal mucosa
    • telangiectases represent dilatations of post-capillary venules
    • present on face, especially around mouth
    • present in buccal and nasal mucosa
    • look everywhere - arms, hands, nail beds, feet, ears, conjunctiva, trunk
    • appearance of purplish stains that partially blanch with pressure
  • Absence of features of systemic sclerosis
  • evidence of anaemia secondary to Fe deficiency - due to recurrent bleeding episodes
  • presence or absence of cyanosis - may reflect arteriovenous shunting
  • Respiratory system - cyanosis and evidence of shunt secondary to pulmonary arteriovenous malformation
    • evidence through clubbing, cyanosis, possible bruits
  • Cardiovascular - high output cardiac failure because of left - right shunts
  • GI - Fe deficiency anaemia, jaundice, hepatomegaly, cirrhosis, portal hypertension
  • Neurological - central nervous vascular lesions, SAH, spinal AV malformations can lead to paraparesis, 50% get migraines

Genetics
  • multi-loci implicated
  • autosomal dominant
  • all genetic mutations related to signal transduction cascade through transforming growth factor beta
  • patients with endoglin gene have higher rates of pulmonary arterio-venous malformations - this can cause shunts, cause paradoxical strokes and lead to brain abscess formation

What is the most common presentation?
  • Epistaxis is the most common presentation
  • GI bleeding is also very common

Differential diagnosis
  • Systemic sclerosis
  • Mitral stenosis
  • Carcinoid syndrome
  • Ataxia telangiectasia
  • Hepatic failure
  • Polycythaemia
  • Dermatomyositis
  • Lupus pernio

What are the diagnostic criterion for HHT?
  • recurrent epistaxis
  • telangiectasia at sites other than nose
  • visceral involvement
  • evidence of A/D inheritance
  • Need three of the above

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