Genetic Bechet's Disease in Hughes–Stovin Syndrome New Finding and Successful Treatment

Hughes-Stovin Syndrome (HSS) is a rare potentially fatal vasculitis supposedly belonging to the spectrum of Behçet disease (BD) without ocular involvement. HSS tends to play by a temporal pattern, starting with thrombosis and followed by formation of pulmonary aneurysms. Since its mortality can reach 25% of cases, the early recognition and the appropriate therapy represent the major challenges.

The epidemiology of BD is uniquely distributed along the ancient Silk Road from Mediterranean countries to Middle Eastern and East Asian countries. BD is rarely in Northern Europe (0.64 cases per 100,000 population), North America (0.12?0.33 cases per 100,000 population), Australia, and Africa

The environmental trigger hypothesis has also been proposed in BD patients with genetic susceptibility. Trigger factors such as bacteria or viruses may have a high affinity for HLA-B51 molecules

In our case, we aimed to describing a rare case of HSS successfully treated in accordance with multidisciplinary prompt combined management with endovascular approach and immunosuppressive treatments. Hughes Stovin syndrome (HSS) is a rare syndrome characterized by multiple pulmonary aneurysms and thrombophlebitis and is considered a variant of Behcet's disease. It prefers the population between the second and fifth decades and the male sex. The evolution of the clinical course is characterized by the appearance of symptoms related to thrombophlebitis, the formation of aneurysms in the lung or bronchial area, up to rupture due to hemoptysis, often fatal. In our case the home treatment of thrombophlebitis revealed the presence of hemoptysis and endovascular therapy of the successfully pulmonary aneurysm exclusion was associated to immunosuppressive therapy.

References

1. Hughes JP, Stovin PGI. Segmental pulmonary artery aneurysms with peripheral venous thrombosis. Br J Dis Chest 1959;53(1):19–27 PubMed

2. Deuter CM, Kötter I, Wallace GR, Murray PI, Stübiger N, Zierhut M. Behçet's disease: ocular effects and treatment. Prog Retin Eye Res 2008;27(1):111–136 PubMed

3. Ortiz-Fernández L, Sawalha AH. Genetics of Behçet's Disease: Functional Genetic Analysis and Estimating Disease Heritability. Front Med (Lausanne) 2021;8:625710 PubMed

4. Durieux P, Bletry O, Huchon G, Wechsler B, Chretien J, Godeau P. Multiple pulmonary arterial aneurysms in Behcet's disease and Hughes-Stovin syndrome. Am J Med 1981;71(4):736–741 PubMed

5. Balci NC, Semelka RC, Noone TC, Worawattanakul S. Multiple pulmonary aneurysms secondary to Hughes-Stovin syndrome: demonstration by MR angiography. J Magn Reson Imaging 1998;8(6):1323–1325 PubMed

6. Kindermann M, Wilkens H, Hartmann W, Schäfers HJ, Böhm M. Images in cardiovascular medicine. Hughes-Stovin syndrome. Circulation 2003;108(23):e156 PubMed

7. Fischer A, Korman DS, West SG. Radiologic vignette: Hughes-Stovin syndrome. Arthritis Rheum 2005;53(1):114–116 PubMed

8. Ketchum ES, Zamanian RT, Fleischmann D. CT angiography of pulmonary artery aneurysms in Hughes-Stovin syndrome. AJR Am J Roentgenol 2005;185(2):330–332 PubMed

9. El Jammal T, Gavand PE, Martin M, Korganow AS, Guffroy A. Syndrome de Hughes-Stovin : à propos d’un cas chez un jeune patient avec thromboses récurrentes et anévrysme de l’artère pulmonaire et revue de la littérature. Rev Med Interne 2019;40(2):120–125 PubMed

10. Emad Y, Ragab Y, El-Marakbi A, et al. A case of Hughes-Stovin syndrome (incomplete Behçet's disease) with extensive arterial involvement : unmasking the true face of a rare syndrome. Z Rheumatol 2019;78(4):365–371 PubMed

11. Emad Y, Ragab Y, Ibrahim O, Saad A, Rasker JJ. Pattern of pulmonary vasculitis and major vascular involvement in Hughes-Stovin syndrome (HSS): brief report of eight cases. Clin Rheumatol 2020;39(4):1223–1228 PubMed

12. Jridi M, Rachdi I, Daoud F, et al. Hughes-Stovin syndrome complicated with fatal pneumothorax in Behçetâ€s disease: simple bad luck or is there an etiopathogenic link? Journal of Cardiology & Current Research 2020;13(2):34–35

13. Lee WY, Hoon CS, Kim HR. Massive hemoptysis caused by atypical Behcet's disease. Korean J Thorac Cardiovasc Surg 2014;47(2):178–180 PubMed

14. Khalid U, Saleem T. Hughes-Stovin syndrome. Orphanet J Rare Dis 2011;6:15 PubMed

No conflict of interest has been declared by the author(s).

Publication History

Article published online:
10 June 2022