HyperbilirubinemiaHyperbilirubinemia

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

DemographicsDemographics

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: PMHx:

Paranoid schizophrenia Obesity Over-flow incontinence likely

Paranoid schizophrenia Obesity Over-flow incontinence likely

PSHx: PSHx:

Tubal ligation Tubal ligation

Medications & Allergies: Medications & Allergies:

Loxapine 25 mg OD Multivitamin Folic Acid Vitamin B12 NKDA

Loxapine 25 mg OD Multivitamin Folic Acid Vitamin B12 NKDA

Social Hx: 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 ConcernChief Concern

Serum icterus, slight (incidental finding) Fatigue?

Serum icterus, slight (incidental finding) Fatigue?

Lab Findings: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 & PathophysiologyDx & 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 ReviewPhysiology 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 ContinuedPhysiology 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 & SymptomsSigns & 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

DifferentialsDifferentials

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 StudiesLaboratory 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.

TreatmentTreatment

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: 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.

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.