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Hyperbilirubinemia. Sara Pape-Salmon NP(F) VIHA, Mental Health & Addictions Services April 13, 2010. Demographics . H.H. 64 year-old female Eastern European descent Resides in Victoria. PMHx: . Paranoid schizophrenia Obesity Over-flow incontinence likely. PSHx: . Tubal ligation.
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Hyperbilirubinemia Sara Pape-Salmon NP(F) VIHA, Mental Health & Addictions Services April 13, 2010
Demographics • H.H. • 64 year-old female • Eastern European descent • Resides in Victoria
PMHx: • Paranoid schizophrenia • Obesity • Over-flow incontinence likely
PSHx: • Tubal ligation
Medications & Allergies: • Loxapine 25 mg OD • Multivitamin • Folic Acid • Vitamin B12 • NKDA
Social Hx: • Lives alone • No ETOH, currently non-smoker (remote 20 yr hx), no IVD/illicit drug use • Receives intensive MHAS out-reach services • Family hx is not known
Chief Concern • Serum icterus, slight (incidental finding) • Fatigue?
Lab Findings: • Serum indices = slight icterus • ALT, AST = normal • Total bilirubin = high (29 umol/L) • Conjugated bilirubin = normal (3 umol/L) • ? Unconjugated bilirubin (was not obtained/tested)
Dx & Pathophysiology • Gilbert Syndrome • Pathophysiology • Most common inherited cause of unconjugated hyperbilirubinemia (recessive trait UGT1 gene) • Underactivity of the conjugating enzyme system (diphospate glucuronyl transferase) • Benign condition
Physiology Review • Bilirubin conjugation • Bilirubin = byproduct of RBC destruction • In plasma bilirubin binds to albumin & is lipid soluble = “unconjugated bilirubin” • Unconjugated bilirubin can cross biologic membranes
Physiology Continued • Bilirubin conjugation cont: • Unconjugated bilirubin moves into sinusoids in the hepatocyte & joins with glucuronic acid & becomes water soluble = “conjugated bilirubin” • Conjugated bilirubin, now H2O soluble, can be excreted • Excreted in urine (sm amt as urobininogen) and in feces (mostly)
Signs & Symptoms • Usually dx around puberty • Often precipitated by intercurrent illness, dehydration, menstrual periods, stress, fasting states • Abdominal cramps • Fatigue • Malaise • Mild jaundice intermittently in some • Many people are asymptomatic
Differentials • Hemolysis • Hematoma • Rhabdomyolysis • Acute or chronic liver disease • Infections • Cardiac disease • Medications (e.g. Atazanavir, probenicid, some antibiotics) • Thyrotoxicosis
Laboratory Studies • CBC including retics and blood smear (exclude hemolysis, RBC abnormalities) • Lactate dehydrogenase • LFT’s • Conjugated and unconjugated bilirubin • Dx: Normal CBC, retic, blood smear, LFT’s, + unconjugated hyperbilirubinemia on several occasions, + absence of other disease process.
Treatment • Reassurance of benign nature • Normal life expectancy • No dietary or activity restrictions • No medications for treatment
References: • McCance, K.L., & Huether, S.E. (2002). Pathophysiology: The biologic basis for disease in adults and children. (4th ed). Mosby Inc. St. Louis, Missouri. • Mukherjee, S. (2009). Gilbert Syndrome. Found on-line at http://emedicine.medscape.com/article/176822-overview.