Hyperbilirubinemia Sara Pape-Salmon NP(F) VIHA, Mental Health & Addictions Services April 13, 2010 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 H.H. 64 year-old female Eastern European descent Resides in Victoria
PMHx: Paranoid schizophrenia Obesity Over-flow incontinence likely Paranoid schizophrenia Obesity Over-flow incontinence likely
PSHx: Tubal ligation
Medications & Allergies: Loxapine 25 mg OD Multivitamin Folic Acid Vitamin B12 NKDA 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 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? 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) 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 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 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) 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 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 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. 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 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 overview. overview 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 overview. overview