Clinical history |
Age, sex, ethnicity |
Pregnancy and birth data: Adverse events during pregnancy, maternal serologies, birthweight, neonatal cholestasis, surgery, TPN |
Signs and symptoms of systemic disease: anorexia, fatigue, muscle weakness, failure to thrive |
Nausea, vomiting, abdominal pain, diarrhea, dyspepsia |
Jaundice, pruritus, discoloration of urine and feces |
Abdominal distension |
Peripheral edema |
Bleeding - nose, gums, skin, gastrointestinal tract |
Bone pain, fractures |
Adolescence: Menstrual history |
Previous medical history: Jaundice, hepatitis, drug use, blood transfusions, inflammatory bowel disease |
Social behaviors (adolescence): Use of alcohol or other drugs, tattoos, piercings |
Family history: Consanguinity, liver disease, autoimmune disease |
Physical examination: |
General: Anthropometric data (malnutrition or obesity), fever |
Skin and extremities: jaundice, flushing or pallor, spider nevi, telangiectasias, palmar erythema, clubbing of the nails, xanthoma, Terry’s nails |
Abdomen: Distension, prominent blood vessels, liver and spleen alterations (reduced liver size, splenomegaly) |
Neurological alterations: Academic performance, sleep, asterixis, positive Babinski sign, mental status changes |
Miscellaneous: Pubertal delay, gynecomastia, testicular atrophy, feminization |