A 39-year-old woman presented with pyrexia. Extensive investigations showed negative results. On referral, she was febrile (41°C) and jaundiced, with a massive hepatomegaly to the pelvis.
Clinical Summary
Investigations showed a hemoglobin level of 9.3 g/dL, leukocyte level of 2.3×109/L, platelet level of 162×109/L, bilirubin level of 76 (4-23) μmol/L, alanine aminotransferase level of 94 (7-36) IU/mL, aspartate aminotransferase level of 94 (14-30) IU/mL, and alkaline phosphatase level of 824 (32-93) IU/mL. Serologic markers for autoimmune diseases were negative. Serum ferritin, measured by a 2-site chemiluminometric assay with the World Health Organization standard 80/578, was elevated to 883,100 (25-275) pmol/L.
Bone marrow examination showed hemophagocytosis (Figure 1A, B) and 10% atypical lymphoid cells. Polymerase chain reaction for T-cell receptor alpha, beta, and gamma genes showed polyclonal bands, excluding a T-cell lymphoma.
Positron emission tomography and computed tomography showed eumetabolic massive hepatomegaly (Figure 1C, D). Liver biopsy showed moderate mixed macrovesicular and microvesicular steatosis (Figure 1E, F).
Two months after presentation, hepatic failure developed, and liver allografting was considered. However, there was improvement after prednisolone (1 mg/kg) therapy. One month later, a salmon-pink rash developed on the patient’s face and trunk. Adult-onset Still’s disease was diagnosed. She was treated with intravenous tocilizumab (8 mg/kg), resulting in defervescence within 1 day, liver decreasing to 10 cm within 1 week, and ferritin decreasing to 42,505 pmol/L. Her blood counts normalized after the second dose of tocilizumab. The addition of cyclosporin with tocilizumab (8 mg/kg every 4 weeks) ultimately led to complete remission. At the latest follow-up 22 months afterward, she was entirely asymptomatic.
Discussion
Adult-onset Still’s disease is diagnosed by Yamaguchi et al’s1 definition (≥2 major criteria: fever, arthralgia, typical rash, and leukocytosis; and other minor criteria: sore throat, lymphadenopathy or splenomegaly, liver dysfunction, absence of rheumatoid factor, and antinuclear antibody).1 Our case did not initially qualify, but the typical rash appeared 3 months after presentation, providing enough diagnostic criteria.
To read this article in its entirety and to view additional images please visit our website.
–Gerry Kwok, MB, BS, Amanda Kan, MB, ChB, Rock Y.Y. Leung, MB, BS, Sidney Tam, MB, BS, Chak-Sing Lau, MD, Yok-Lam Kwong, MD
This article originally appeared in the June 2014 issue of The American Journal of Medicine.
