VEXAS-Syndrom – Ein Kurzreview

Zusammenfassung

VEXAS (Vakuolen, E1-Enzyme, X-chromosomal, Autoinflammation, Somatisch)-Syndrom, 2020 erstmals beschrieben, ist verursacht durch Mutationen des UBA1-Gens im X-Chromosom, was zu Dysregulation des angeborenen Immunsystems infolge von fehlerhafter Ubiquitinierung führt. Die Störungen des Proteinstoffwechsels führen zu multiplen Autoinflammationen verschiedener Organe. Zugleich induziert diese Mutation hämatologische Autoinflammationen mit insbesondere Panzytopenien. Allgemeinsymptome sind Fieber und Anämie. An der Haut kommt es zu einer Reihe von Manifestationen wie Sweet-Syndrom, Urtikaria, Livedo-Syndrome, periokuläre Ödeme, verschiedene Formen von Vaskulitis sowie auch vergrößerte Lymphknoten. Histologisch sind neutrophile Infiltrate in der Dermis und eine leukozytoklastische Vaskulitis typisch. Sehr charakteristisch sind rezidivierende Chondritiden der Nase und Ohren, daneben multiple Organinflammationen der Lunge, Augen, Gelenke und gastrointestinal. Therapeutisch am effektivsten sind derzeit hochdosierte Glukokortikoide und die allogene Stammzelltransplantation.
Deshalb: Bei Männern über 40 Jahre mit Sweet-Syndrom-ähnlichen Plaques, Fieber und Chondritis an Ohr oder Nase und/oder anderen Inflammationen an das VEXAS-Syndrom denken und eine Hautbiopsie veranlassen!

Abstract

VEXAS (vacuoles, E1 enzymes, X-linked, autoinflammation, somatic) syndrome, first described in 2020, is caused by mutations in the UBA1 gene on the X chromosome, leading to dysregulation of the innate immune system as a result of defective ubiquitination. The disturbances in protein metabolism lead to multiple autoinflammation of various organs. At the same time, this mutation induces hematological autoinflammation, primarily pancytopenia. General symptoms include fever and anemia. A number of skin manifestations occur, such as Sweet syndrome, urticaria, livedo syndrome, periocular edema, various forms of vasculitis, and enlarged lymph nodes. Histologically, neutrophilic infiltrates in the dermis and leukocytoclastic vasculitis are typical. Recurrent chondritis of the nose and ears are very characteristic, along with multiple organ inflammation of the lungs, eyes, joints, and gastrointestinal tract. Currently, high-dose glucocorticoids and allogeneic stem cell transplantation are the most effective treatments.
Therefore: In men over 40 years of age with Sweet syndrome-like plaques, fever, and chondritis of the ear or nose and/or other inflammation, consider VEXAS syndrome and arrange for a skin biopsy!

Schlüsselwörter

Neutrophile Dermatose - Chondritis - Vaskulitis - Panzytopenie

Keywords

neutrophilic dermatosis - chondritis - vasculitis - pancytopenia

• Literatur

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