CO05 | Management of rare diseases in internal medicine: the role of a multidisciplinary approach
Year: 2025
Type: article
Study design: Case Report
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.
Source: Italian Journal of Medicine
Authors: Vo Van Kha, Tran Thi Huong Ly, Pham Thi Thanh Hoa, Vo Huynh Nhu, Damas Hendriansyah, Nusratuddin Abdullah, Rudy B. Leonardy, Mardiah Tahir, Samrichard Rambulangi, Firdaus Hamid, Filomena Pietrantonio, Vera Kopsaj, Francesco Rosiello, Aurora Tomassoni, Luca Moriconi, Donatella Padua, Kiki Rizki Amelia, Efendi Lukas, Nurbani Bangsawan, Isharyah Sunarno, Retno Budiarti Farid, Sriwijaya Qadar, Rabab H. Elshaikh, Ashok Kumar Sah, Abdelrahman Mohamed Abukanna, Abdulrahman Algarni, Ammar Abdelmola, Hussam Ali Osman, Tagwa Yousif Elsayed Yousif, Elryah I. Ali, Hiba Ali, Ayman Hussein Alfeel, Thanh Long Nguyen, Victor Storm, Lam Toi Phung, Cong Thien Le, Thi Thu Ha Le, Thi Hoa Nguyen, Son Tung Vu, Thien Thang Tran, Minh Hanh Vu, Van Tuan Nguyen, Francesco Ventrella, Anna Belfiore, Antonio Greco, Franco Mastroianni, Salvatore Lenti, Domenico Ruggiero, Michele Cannone, Vincenzo Ostilio Palmieri, Massimo Errico, Giuseppe Mancia, Guido Grassi, Sverre E. Kjeldsen
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4413800980