CO05 | Management of rare diseases in internal medicine: the role of a multidisciplinary approach

S. Barsotti¹, G. Bini¹, F. Finzola¹, C. Cois², E. Citi¹, F. Masi², G. Linsalata¹, C. Giani¹, C. Riccardo¹, J. Rosada¹ | ¹Azienda USL Toscana Nordovest, Pisa, ²University of Pisa, Italy

Abstract

Background: Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disease with markedly elevated inflammatory markers, especially ferritin. In anecdotal cases, AOSD may be associated with thrombotic thrombocytopenic purpura (TTP). Description: Female, 46 years old, diagnosed with AOSD during pregnancy in January 2022; treated with prednisone. Delivery in June 2022 without complications, followed by methotrexate therapy as a steroid sparing agent. Readmitted in December 2022 for asthenia, arthritis, and fever up to 40°C. On examination: HB 4.5 g/dl, PLT <10,000, haptoglobin <10 and elevated LDH, ESR 115 mm/h, ferritin 7450 ng/ml. ADAMTS-13 values not measurable and positive for ADAMTS-13 inhibitors. A PTT associated with AOSD reactivation was diagnosed. The clinical course was complicated by epilepsy and loss of consciousness with findings of temporal edematous lesions on brain MRI. Treatment with plasmapheresis and caplacizumab (anti-von Willebrand factor) was initiated without response. After two days, treatment for AOSD was started with 6-methylprednisolone (3x500 mg) and anakinra (IL1 receptor antagonist) with rapid defervescence and increased HB and PLT values; after approximately two weeks of treatment, the patient was discharged.
Conclusions: The internist plays a key role in the management of acute patients, even those with rare diseases, coordinating the work of multiple specialists (rheumatologist, hematologist, resuscitator, transfusionist, neurologist), drug interactions, and any complications.