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Corticosteroid-sensitive aseptic abscess syndrome
Disease definition
A rare autoinflammatory disorder characterized by recurrent attacks of fever and sterile abscesses.
ORPHA:54251
Classification level: Disorder- Synonym(s):
- Aseptic abscesses syndrome
- Aseptic systemic abscesses
- Disseminated aseptic abscesses
- Prevalence: <1 / 1 000 000
- Inheritance: Not applicable
- Age of onset: Adolescent, Adult
- ICD-10: D89.8
- OMIM: -
- UMLS: C4303863
- MeSH: -
- GARD: 10946
- MedDRA: -
Summary
Epidemiology
It is a rare disease with approximately 150 patients documented to date, among which 85 cases are in the French aseptic abscess syndrome register.
Clinical description
It affects mainly young adults and is characterized by recurrent attacks of fever and abscess-like collections, most frequently localized in the abdomen. Blood markers of inflammation and polymorphonuclear neutrophil levels are elevated. Aseptic abscesses may be either isolated or associated with an underlying condition (60% of patients) such as inflammatory bowel disease or relapsing polychondritis. The abscesses usually precede the diagnosis of inflammatory bowel disease, possibly by several years. A neutrophilic dermatosis, like pyoderma gangrenosum, may also be observed.
Etiology
The etiology is unknown: all searches for a pathogen, including those using PCR with universal and specific probes, remain negative.
Diagnostic methods
The etiology is unknown: all searches for a pathogen, including those using PCR with universal and specific probes, remain negative.
Differential diagnosis
Aseptic abscess syndrome is a diagnosis of exclusion. The non-exhaustive list of etiologies to be considered and ruled out includes infectious abscesses (primarily pyogenic, as well as Chlamydia, Bartonella, and Tropheryma whipplei), mycobacterial infection, neoplasia (particularly lymphoma), chronic septic granulomatosis, splenic infarction, and inflammatory conditions (such as sarcoidosis, Wegener's disease, or rheumatoid nodules).
Management and treatment
Antibiotics fail to cure the patients, but dramatic improvements are seen with corticosteroids and immunosuppressive drugs, including biologics.
Prognosis
In the short term, once the diagnosis is established, patients undergo a significant transformation following the initiation of treatment, marked by a rapid resolution of fever. In the longer term, aseptic abscess syndrome is characterized by a high frequency of relapses (60% of patients), with the possibility of multiple relapses. Clinicians have at their disposal numerous treatment options, including biologics. Colchicine, typically used in combination with other treatments, has been described as a protective factor against relapse. There has been no recorded death directly related to aseptic abscess syndrome to date.
A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)
Detailed information
Disease review articles
- Review article
- English (2005, pdf) - Orphanet
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