Autoinflammatory disorders with symptoms that resemble malignant blood diseases – Schnitzler syndrome, adult Still disease, SAPHO and VEXAS syndrome
Authors:
Z. Adam 1; J. Mayer 1; L. Pour 1; L. Zdražilová Dubská 2; Z. Řehák 3; H. Petrášová 4; P. Benda 5
Authors‘ workplace:
Interní hematologická a onkologická klinika LF MU a FN Brno
1; Ústav laboratorní medicíny FN Brno a Katedra laboratorních metod LF MU Brno
2; Oddělení nukleární medicíny, Masarykův onkologický ústav Brno
3; Klinika radiologie a nukleární medicíny LF MU a FN Brno
4; Chirurgická klinika LF MU a FN Brno.
5
Published in:
Transfuze Hematol. dnes,30, 2024, No. 3, p. 151-168.
Category:
Review/Educational Papers
doi:
https://doi.org/10.48095/cctahd2024prolekare.cz13
Overview
This paper described four autoinflammatory disorders that manifest in adulthood. All of them have certain symptoms that resemble haematological malignancies. These disorders are a fascinating combination of inflammation, haematologic abnormalities, and clinical complexity. Schnitzler syndrome is characterized by a combination of monoclonal gammopathy (specifically IgM gammopathy) and autoinflammatory symptoms. Patients experience systemic inflammation affecting the skin, and bone pain. Various clinical diagnoses, including Sweet syndrome, urticaria, may be suspected. Adult-onset Still’s disease (AOSD) is a rare systemic inflammatory disorder with persistent high fever, joint inflammation, salmon-coloured rash, fatigue, sore throat, and lymphadenopathy. VEXAS syndrome is a monogenic disease of adulthood. It results from somatic mutations in UBA1 within haematopoietic progenitor cells. Patients develop inflammatory symptoms affecting various organs, including the skin, lungs, blood vessels, and cartilage. Myeloid-driven autoinflammation and progressive bone marrow failure contribute to its substantial morbidity and mortality. SAPHO syndrome is a rare condition characterized by a combination of osteitis, osteolytic bone destruction as well as osteoarticular and dermatologic features. SAPHO syndrome induces inflammatory bone lesions (osteolytic or hyperostosis) and joint pain (synovitis). Skin manifestations include acne and pustulosis. Only VEXAS syndrome carries a diagnostic UBA1 mutation, the other three entities require international diagnostic criteria. The latest diagnostic and therapeutic options are discussed in this review.
Keywords:
SAPHO syndrome – autoinflammatory disorder – Schnitzler syndrome – adult onset Still disease (AOSD) –syndrome
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ČESTNÉ PROHLÁŠENÍ
Autoři prohlašují, že jejich autorství na článku je nepřivádí do žádného konfliktu zájmů a nikdo z autorů nemá ekonomickou vazbu na mimo zdravotnické ekonomické subjekty.
PODÍL AUTORŮ NA PŘÍPRAVĚ RUKOPISU
ZA, JM, LP – sepsání a připomínkování textu
LZD – doplnění textu z pohledu laboratorních metod
HP – příprava snímků k tématu SAPHO syndrom
ZŘ – příprava obrázků k syndromu Schnitzlerové a Stillově nemoc dospělých
PB – připomínkování textu z pohledu chirurga
Do redakce doručeno dne: 25. 3. 2024.
Přijato po recenzi dne: 20. 5. 2024.
prof. MUDr. Zdeněk Adam, CSc.
Interní hematologická a onkologická klinika
LF MU a FN Brno
Jihlavská 20
625 00 Brno Bohunice
e-mail: adam.zdenek@fnbrno.cz
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