Rapidly developing jaundice in a Khat user with parenchymal liver disease: diagnostic dilemma

Abstract Background In this case report, we described a case of primary hemochromatosis which is infrequently diagnosed in the Middle East. There is lack of awareness of hemochromatosis among clinicians and pathologists in our region as the disease is relatively rare but increasing due to the geographical diversity. Case summary A 40-year-old Yemeni man known to have chronic liver disease of undetermined etiology presented to the hospital of Theodor Bilharz Research Institute (TBRI) in Egypt with rapidly developing jaundice of 2 months duration. Past medical history included a prolonged history of heavy exposure to the plant, Khat, both cultivating and chewing it. The patient was admitted to TBRI hospital, where clinical examination revealed jaundice. Ultrasound examination showed hepatosplenomegaly and signs of portal hypertension. Laboratory results showed high serum bilirubin level (total 34.3 mg/dl, mostly direct), moderate elevation of ALT and AST, negative HBsAg and HCV Ab. The patient came to TBRI institute while taking 40 mg prednisolone daily for 10 days before admission assuming that he has autoimmune hepatitis, however the steroid treatment failed to improve his condition and the positivity of ANA and ASMA was not confirmed in TBRI lab. The corticosteroid was stepped down gradually until stoppage. The iron profile showed a high serum iron level, transferrin saturation, and ferritin. Liver biopsy revealed periportal lymphocytic infiltration with moderate portal fibrosis and focal bridging with mild cholestasis, only rare plasma cells were seen. Subsequent Prussian blue staining of the liver biopsy was positive for iron in hepatocytes consistent with the diagnosis of hemochromatosis. Treatment was started with multiple phlebotomy sessions and administration of iron chelating agents (Desferal) which resulted in a rapid decrease of serum bilirubin and improvement of other laboratory tests. Jaundice resolved within weeks of initiation of therapy. Conclusion This is a case of primary hemochromatosis which is infrequently diagnosed in the Middle East. There is lack of awareness of hemochromatosis among clinicians and pathologists in our region as the disease is relatively rare due to the geographical diversity. Clinicians should follow all positive diagnostic leads regardless of the local prevalence of the diseases. When confronted with cases with hepatic dysfunction of unknown cause, all available diagnostic modalities should be used to reach the proper diagnosis regardless of the rarity of the pathology.