Hughes-Stovin syndrome (HSS) preliminary diagnostic criteria: a report by the HSS International Study Group (HSSISG)

Hughes-Stovin syndrome (HSS) is a systemic vasculitis that remains an enigmatic and poorly understood clinical disorder. Despite this, no diagnostic criteria have been established since the disease was initially described in 1959. The objective of this report is to develop preliminary HSS diagnostic criteria proposed by the HSS International Study Group (HSSISG).

This international initiative included a systematic literature review of HSS case reports in a global endeavor. A systematic review of MEDLINE, EMBASE, and the Cochrane database identified 112 HSS patients. The selected reports were based on comprehensive case presentations, encompassing demographic characteristics, initial disease presentations, notable symptoms and signs, laboratory findings, radiological investigations, medical lines of treatment or interventional management received, and finally patients' outcomes. Diagnostic criteria were selected based on their clinical relevance, dominance, and consensus among the HSSISG members. Each criterion was discussed in detail to enhance comprehension and interpretation by physicians.

Following consensus agreement, one mandatory entry criterion was selected which included pulmonary findings, along with one exclusion criterion regarding ocular aspects. Two major criteria were defined, vascular aspects and coagulation profile, and four minor criteria: mucocutaneous, central nervous system, cardiac, and inflammatory markers. The maximum achievable score is 30, with a suggested definitive diagnosis of HSS with scores 10 or higher, probable HSS with scores of 5-9, and possible HSS for scores 3-4. Scores < 3 are considered nondiagnostic.

Preliminary HSS diagnostic criteria were proposed after a comprehensive and critical literature review by the HSSISG to offer support for early diagnosis and optimal management.