Copyright Why Are My Eyes Yellow?
What’s Your Diagnosis?
Why Are My Eyes Yellow?
Jerzy K. Pawlak, MD, MSc, PhD
Walter, a 55-year-old gentleman, is concerned about his recent asymptomatic yellowish sclera. He had a few similar episodes as a teenager; otherwise, he is healthy. tion Medical history © ibu t tr ad, h is nlo • Hypertension; no other significant issues g D ow ri l n d e • Two adult children y ia ca us p rc ers nal o e us rso • Non-smoker C m ised r pe m hor y fo • Social drinker (occasional red wine or beer) o A• uStugar: 5o.p8 mmol/L C d. le c r ite ing • Older brother passed away due to oheart athtaicbk in a•s Bilirubin total: 41.0 µmol/L (normal: 2.0 to 18 le pro int early forties a use pr µmol/L; 0.1 to 1mg/dL) S ed and • Medications: Moicardis 8o0rmisg q.di.eawnd Crestor Indirect: 34.0 µmol/L; direct 7.0 µmol/L f uth y, v ot na pla 10 mNg q.d. U dis (normal: 0 to 7 µmol/L; 0 to 0.2 mg/dL) • Lipase, amylase: normal Physical examination • Uric acid: 343 µmol/L (normal) • Hepatitis B virus surface antigen: negative • BP: 128/79 mmHg Hepatitis C virus antibody: negative • Pulse: 72 bpm Hepatitis A virus antibody: positive • Respiratory rate: 18 breaths per minute • CT of abdomen and abdominal ultrasound: No • Weight: 90 kg visible evidence of bilary duct obstruction • Height: 185 cm • No visible abnormalities of the pancreas • Chest is clear • Remainder of liver function is normal • Heart sounds are normal, no murmurs • Peripheral pulses are palpable What is your diagnosis? • No edema • Abdomen is soft; no mass and no organomegaly a. Chronic hepatitis • Neurological examination within normal limit b. Cholecystitis with jaundice c. Gilbert’s syndrome Clinical Investigation d. Liver cirrhosis • CBC count (including reticulocyte count and blood smear): normal Answer: Gilbert’s syndrome • Hemoglobin: 149g/L • White blood cells: 5.0 x 10 9/L
The Canadian Journal of Diagnosis / April 2011 45 What’s Your D x?
About Gilbert’s syndrome studies show that Gilbert’s syndrome occurs pre - dominately in men. Augustine Gilbert and Pierre Lereboullet first Laboratory Tests described Gilbert’s syndrome, the most common inherited cause of unconjugated hyperbilirubinemia, CBC count (including reticulocyte count and blood in 1901. This autosomal recessive condition is char - smear): This is a useful screening test to exclude acterized by intermittent jaundice, in the absence of hemolysis. Rarely, red blood cell abnormalities hemolysis or underlying liver disease. Gilbert’s syn - resembling variegate porphyria have been described drome is usually diagnosed around puberty, possibly in persons with Gilbert’s syndrome, possibly due to because endogenous steroid hormones produced at the increased hepatocellular bilirubin concentration. that time inhibit bilirubin glucuronidation. Initial Lactate dehydrogenase: Levels are elevated in diagnosis in older patients is usually made when persons with hemolysis, but are normal in those unconjugated hyperbilirubinemia is noted on routine with Gilbert’s syndrome. blood test results, or unmasked by an intercurrent ill - Liver function tests: With the exception of ness or stress. At least 30% of patients are asympto - unconjugated hyperbilirubinemia, standard liver matic, although nonspecific symptoms, such as function test results are normal. However, a familial abdominal cramps, fatigue, and malaise, are com - increase in serum alkaline phosphatase levels has mon. Abdominal symptoms in these patients are been reported in persons with Gilbert’s syndrome. poorly defined. The hyperbilirubinemia is mild, and Imaging studies are not required to confirm a diag - by definition, less than 6 mg/dL; however, most nosis, as the liver is histologically normal, except patients exhibit levels of less than 3 mg/dL. for occasional accumulation of a lipofuscin-like Bilirubin levels may occasionally be normal in as pigment around the terminal hepatic venules. many as one-third of patients. Gilbert’s syndrome Patients with Gilbert’s syndrome should be has long been recognized as being due to underac - clearly informed of its benign nature, and that tivity of the conjugating enzyme system, bilirubin- hyperbilirubinemia is not associated with increased uridine diphosphate glucuronyl transferase (biliru - morbidity; it has an excellent prognosis and is asso - bin-UGT). Bilirubin-UGT is responsible for conju - ciated with normal life expectancy. Not only is gating bilirubin into bilirubin monoglucuronides Gilbert's syndrome not harmful, but it may actually and diglucuronides, and is located primarily in the prolong life by preventing heart attacks. The bad endoplasmic reticulum of hepatocytes. Population LDL cholesterol in your bloodstream must be con - verted to oxidized LDL before it can form plaques in arteries; bilirubin helps to prevent formation of oxidized LDL cholesterol, and therefore helps pre -
vent heart attacks. Dx
Resource 1. Mukherjee S. 2009 Nov. 19. Gilbert Syndrome [Internet]. Available at:
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