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

Abstract

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 Behçet syndrome, although oral aphtae, arthritis, and uveitis are rarely found. Behçet syndrome is a multifactorial polygenic disease with genetic, epigenetic, environmental, and mostly immunological contributors. The different Behçet 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 Behçet 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 Behçet/Hughes-Stovin syndrome and aneurysms in vascular Behçet syndrome. Recent advances in diagnostic techniques, including genetic testing, could help diagnose a specific Behçet syndrome subtype and other associated conditions to personalize the disease management.

Pulmonary artery involvement due to Behçet's syndrome and Hughes Stovin syndrome: a comparative study

“…There may be other reasons why HSS patients have more PAA, but fewer We have showed that isolated PAT and PAA have similar clinical findings and respond to the same immunosuppressive therapy, suggesting that they represent the same clinical spectrum (7,9). Importantly, cases with PAA who were previously documented to have solo PAT suggest that PAT could be indeed the precursor in this spectrum (7,29,49,75). On the HSS side, however, the concept of isolated PAT apparently has not been recognized yet.…”

Pulmonary Arterial Aneurysms and Thrombosis in a Young Male: A Rare Presentation of Behcet's Disease

“…After ruling out infectious etiology, septic emboli, and underlying coagulopathic disease, and based on the findings of multiple arterial aneurysms with venous thrombosis of large, medium, and small vessel thrombosis, a diagnosis in the presence of an aphthous ulcer was suspected to be Behcet's disease, which was later confirmed with a pathergy test. Incomplete Behcet's disease/Hughes-Stovin syndrome (HSS) was considered less likely due to the presence of aphthous ulcers, which are very rare in HSS [ 8 , 9 ]. Anticoagulation therapy was not initiated due to the high risk of bleeding.…”

Case Report: HUGHES-STOVIN SYNDROME: A RARE ENTITY AND CHALLENGING THERAPEUTIC DECISION: CASE SERIES AND REVIEW OF THE LITERATURE

“…17,18 Triggianese et al presented an interesting approach linking HSS to HLAB51 in their case report, which is in contradiction with Manole et al's work suggesting that HSS is a mainly vascular disorder associated with certain minor genetic variations that can interfere with proper vascular function. 4,5 These assumptions need further investigation but are hindered by the scarcity of patients. From the anatomical perspective, aneurysms may be single, multiple, unilateral or bilateral.…”

“…Interesting hypotheses suggested that Hughes-Stovin syndrome may be attributed to an autoimmune disorder, whereas others propose a genetic predisposition or a potential combination of both factors. 4,5 The management of Hughes-Stovin syndrome is controversial due to its rarity and limited understanding. The primary objective of treatment is to prevent or control the complications associated with DVT and PAA.…”