Differentials
Haemolysis
SIGNS / SYMPTOMS
Signs and symptoms of anaemia (fatigue, dizziness, dyspnoea, pallor, tachycardia). Gallstones. Splenomegaly may be present in some causes of haemolysis (hereditary spherocytosis, non-Hodgkin's lymphoma, or portal hypertension due to cirrhosis). However, GS may co-exist with hereditary haemolytic anaemias.[3]
INVESTIGATIONS
FBC: abnormal.
Peripheral smear: abnormal.
Reticulocyte count: abnormal.
Lactate dehydrogenase: elevated (normal in GS).
Cirrhosis
SIGNS / SYMPTOMS
Patients with liver disease often have hepatomegaly, splenomegaly, spider angiomas, palmar erythaema, encephalopathy, and gynaecomastia.
INVESTIGATIONS
Ultrasound: may show hepatomegaly, splenomegaly, and sluggish or retrograde portal vein flow.
FBC: thrombocytopenia and anaemia.
Clotting profile: coagulopathy.
Liver aminotransferases: usually elevated.
Alkaline phosphatase: elevated.
Gamma-glutamyltransferase (GGT): elevated.
Cardiac disease (e.g., congenital heart disease and valvular heart disease)
SIGNS / SYMPTOMS
Clubbing, heart murmur, shortness of breath, palpitations, orthopnoea, paroxysmal nocturnal dyspnoea.
INVESTIGATIONS
Echocardiogram: abnormal.
Abdominal ultrasound: dilated inferior vena cava and hepatic and portal vessels.
Liver aminotransferases: elevated.
Biliary tract disease
SIGNS / SYMPTOMS
Pruritus, acholic (pale) stools, bilirubinuria.
INVESTIGATIONS
Imaging: abnormal bile ducts.
Alkaline phosphatase: elevated.
GGT: elevated.
Liver aminotransferases: elevated.
Thyrotoxicosis
SIGNS / SYMPTOMS
Tremor, palpitations, tachycardia, diaphoresis, diarrhoea.
INVESTIGATIONS
Thyroid-stimulating hormone: decreased.
Serum-free T4: elevated.
Serum-free T3: elevated.
Rhabdomyolysis
SIGNS / SYMPTOMS
Myalgia, arthralgia, weakness.
INVESTIGATIONS
Creatine phosphokinase: elevated.
Urea and creatinine: possibly elevated.
Crigler-Najjar syndrome type I
SIGNS / SYMPTOMS
Severe jaundice within the first few days of life.
Kernicterus or neurological deficits.
Life expectancy <1 year.
INVESTIGATIONS
Bilirubin level: usually >342 micromol/L (>20 mg/dL) because of absent bilirubin conjugation.
Crigler-Najjar syndrome type II
SIGNS / SYMPTOMS
Bilirubin encephalopathy, though rare, can be induced by factors such as infection or anaesthesia.
Usually presents in childhood.
INVESTIGATIONS
Bilirubin level: generally between 102 and 427 micromol/L (6 and 25 mg/dL) because of a uridine-diphosphoglucuronate glucuronosyltransferase (UDPGT) enzyme activity <10%.
Medication-induced hyperbilirubinaemia
SIGNS / SYMPTOMS
Numerous (e.g., oedema, ataxia, nausea, vomiting).
Review of patient’s medication list: for example, rifampicin, paracetamol overdose, sulfasalazine, methyldopa, erythromycin, or oestrogens may cause hyperbilirubinaemia.[14]
INVESTIGATIONS
Liver aminotransferase: usually elevated with medications such as rifampicin or probenecid. Abnormalities should improve after withdrawal of the offending agent.
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