Frail Silk: Is the Hughes-Stovin Syndrome a Behcet Syndrome Subtype with Aneurysm-Involved Gene Variants?

Hughes-Stovin syndrome is a rare disease characterized by thrombophlebitis and multiple pulmonary and/or bronchial aneurysms. The etiology and pathogenesis of HSS are incompletely known. The current consensus is that vasculitis underlies the pathogenic process, and pulmonary thrombosis follows arterial wall inflammation. As such, Hughes-Stovin syndrome may belong to the vascular cluster with lung involvement of Behcet syndrome, although oral aphtae, arthritis, and uveitis are rarely found. Behcet syndrome is a multifactorial polygenic disease with genetic, epigenetic, environmental, and mostly immunological contributors. The different Behcet syndrome phenotypes are presumably based upon different genetic determinants involving more than one pathogenic pathway. Hughes-Stovin syndrome may have common pathways with fibromuscular dysplasias and other diseases evolving with vascular aneurysms. We describe a Hughes-Stovin syndrome case fulfilling the Behcet syndrome criteria. A MYLK variant of unknown significance was detected, along with other heterozygous mutations in genes that may impact angiogenesis pathways. We discuss the possible involvement of these genetic findings, as well as other potential common determinants of Behcet/Hughes-Stovin syndrome and aneurysms in vascular Behcet syndrome. Recent advances in diagnostic techniques, including genetic testing, could help diagnose a specific Behcet syndrome subtype and other associated conditions to personalize the disease management.

Automated summary

Hughes-Stovin syndrome is a rare disease characterized by thrombophlebitis and multiple pulmonary and/or bronchial aneurysms. The exact etiology and pathogenesis of HSS are still not fully understood. It is believed that vascular inflammation plays a key role in the development of HSS, leading to pulmonary thrombosis. It is possible that Hughes-Stovin syndrome shares common pathways with Behcet syndrome and other vascular diseases.