Case 3

To begin from the scratch

A male patient, 26 year-old, with a 6 years history of medical consultations because of jaundiced eyes. He was diagnosed to have some hepatic problem that was the cause of jaundice, however he had no improvement with the many drugs he had administered during all that period.

He came to me in a disappointed mood with the same 5-year complaint trying to seek another additional opinion.

He worked in an eastern sweet factory 6 years ago, with no other remarkable personal history regarding special habits, social life, past history, operations, blood transfusion or family history. His jaundice was not associated with any other remarkable symptoms that can direct
attention to certain diagnoses. In examination he had nothing abnormal except for tinge of jaundice and mild splenomegaly which was detected with some meticulous examination.

His lab data were:
- Hb 15.2 mg/dl - TLC 5.100 - PLT 190.000
- Bilirubin (Total 3.85 - Direct 0.61) mg/dl
- ALT 17 U/L -AST 25 U/L
- Serum iron 105 (N:60-160)
- Anti biharzial antibodies : positive titre 320
- HBs antigen : negative
- HCV antibodies : negative
- ANA : negative

-The second logic step is trying to elucidate the cause of hyperbilirubinemia from the available data clinically which will guide the investigations required later.

-He had some positive clues clinically :

-Mild splenomegaly

-No other abnormalities detected including signs of liver affection which should have been obvious by this time specially if it would cause jaundice!!

-Hepatic disease was not supported by any evidence either clinically or by investigations. Even more ,if present, no trial to search for the cause of liver affection was attempted.

-At this step I would like to think of hematological causes as the first possibility which would obviously be hemolysis increasing bilirubin production.

-This guided the situation towards ordering investigations to clarify hemolysis cause. So I ordered :

- Electrophoresis of hemoglobin: normal pattern

- Direct Coomb's test : negative    - Coomb's test (indirect): negative

- G6PD activity (Quant.): 66 µU/mil RBCs   (N: 146-378)

 

Obviously this is a case of glucose-6-phpshate dehydrogenase deficiency presented later in life.

-Two critical questions should be asked at this point:

  -Why the patient was not manifesting during the long past life and just started to manifest 5 years ago?  

  -Why the patient's complaint continued all that period without abating?   

-Answer lies in his personal history: working in an eastern sweet factory started 6 years ago (start of manifestations) which, as well known to the Egyptians and Arabians, uses large amounts of mixed nuts as the main components of their products. The (continuous exposure) and heavy load of this offensive agent constituted the trigger to the hemolytic process.

-Treatment as well-known is to avoid the offending agent and in this case by working in the department of the factory which does not use these nuts in their products!!

-It was necessary here to re-think in the case in a different and logic way which needed beginning from the scratch.