The treatment of acute promyelocytic leukemia (APL) can provide management challenges in patients with Wilson disease (WD), as highlighted by a case study published in Hematology.

APL is commonly treated with all-trans retinoic acid (ATRA) and arsenic trioxide (ATO). However, their use in patients with baseline liver dysfunction and impaired transporter function can lead to treatment challenges. 

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“To our knowledge, this is the first case report describing the occurrence of APL in a patient with WD in both the adult and pediatric populations. We discussed in detail the challenges faced in treating APL in a patient with WD in the setting of organ dysfunction in the form of compensated liver cirrhosis and achieving remission by using hepatotoxic medication without inducing further liver injury by using reduced doses of chemotherapy,” the authors wrote.

In the case, a 22-year-old female patient who had WD since 5 years of age presented with a 1-week history of fatigue and abdominal pain that caused interference with her daily life. Her WD was managed with D-penicillamine, and she had no renal or neurological manifestations or portal hypertension.

Bloodwork revealed a low hemoglobin level, platelet count, and elevated white blood cell count. Additional lab workup indicated APL and CT of the abdomen revealed chronic liver disease, small ascites, splenomegaly with multiple infarctions, and a ruptured hemorrhagic ovarian cyst.

Treatment was initiated with ATRA, ATO, and idarubicin according to the Australasian Leukemia and Lymphoma Group APML4 (ALLG APML4) protocol; however, the idarubicin dose was reduced by 50%. Cholestatic liver injury developed during the course of treatment starting on day 1, and total bilirubin developed its highest level on day 22.

On day 3 of treatment, the patient experienced ocular hemorrhage and was given supportive care. She also experienced mild differentiation syndrome, which was managed with dexamethasone and diuretics. D-penicillamine treatment was put on hold on day 20 since it can cause myelosuppression, and the patient was switched to trientine for management of WD.

The patient was started on consolidation therapy on day 35 with subsequent reductions to 50% and 33% dose levels of ATO and ATRA because of hepatocellular injury. Postconsolidation test results indicated no sign of APL, and the patient received maintenance therapy for a year and planned to continue for a second year.


AlDawood Z, Bin Morya M, Alrajhi AM, Alfayez M, AlSwayyed AF, AlShehry N. First report of acute promyelocytic leukemia in a patient with Wilson’s disease: contemporary discussion of a management challenge. Hematology. Published online August 29, 2023. doi:10.1080/16078454.2023.2252649