E80.4

Clinical Causes: T h e c o n d i t i o n r e s u l t s f r o m a g e n e t i c m u t a t i o n t h a t i m p a c t s t h e e n z y m e r e s p o n s i b l e f o r p r o c e s s i n g b i l i r u b i n i n t h e l i v e r . T h i s e n z y m e , c a l l e d U D P - g l u c u r o n o s y l t r a n s f e r a s e , i s l e s s a c t i v e i n i n d i v i d u a l s w i t h G i l b e r t s y n d r o m e . T h i s d e c r e a s e d a c t i v i t y l e a d s t o a m i l d b u i l d u p o f b i l i r u b i n i n t h e b l o o d , c a u s i n g o c c a s i o n a l j a u n d i c e .

Key Symptoms: Mild jaundice (a yellowish tint to the skin and the whites of the eyes) Fatigue or tiredness (less common) Mild abdominal discomfort during episodes Unpredictable episodes, often triggered by factors such as fasting, dehydration, stress, illness, or strenuous exercise

Diagnosis Path: Blood tests showing elevated bilirubin levels, particularly unconjugated bilirubin Normal liver function tests for other enzymes and markers Family history suggesting an inherited condition Repeated episodes of mild jaundice with no severe liver damage

Treatment Protocols: Reassurance about the benign nature of the condition Avoiding known triggers such as fasting, dehydration, or stress Maintaining a balanced diet and staying well-hydrated during episodes Regular medical check-ups to monitor liver health if needed