Type 1 VWD classification revisited: novel insights from combined analysis of the LoVIC and WiN studies
Yasser Emad a), Yasser Ragab b), Harrison W. Farber c), Doruk Erkan d), Ossama Ibrahim e), Michael Kindermann f), Jasna Tekavec-Trkanjec g), Balakrishnan Jayakrishnan h), Nashwa El-Shaarawy i), Melek Kechida j), Pablo Young k), Sonia Pankl k), Marianna Fabi l), Parag Bawaskar m), Issam Kably n), Sergio Ghirardo o), Faten Frikha p), Alaa Abou-Zeid q), Maged Hassan r), Cal Robinson s), Mohamed H. Abdelbary t), Leticia Tornes u), Jason Margolesky u), Bhupen Barman v), Sami Bennji w), Manoj Kumar Agarwala x), Khalid Alhusseiny y), Taoufik Amezyane z), Rafael S. Silva aa), Vitor Cruz ab), Bruno Niemeyer ac), Khalfan Al-Zeedy k), Hamdan Al-Jahdali ad), Natalia Jaramillo ae), Serkan Demirkan af), Aurelien Guffroy ag) ah), Jung Tae Kim ai), Nikolas Ruffer aj), Samar Tharwat ak), Diletta Cozzi al), Mabrouk Abdelali am), Tubig C. Joy an), Mona Sayed ao), Juljani Sherwina an), Tamer Gheita a), Johannes J. Rasker ap)
a) Rheumatology Department, Faculty of Medicine, Cairo University, Kasr Al-Ainy St, 11562 Cairo, Egypt
b) Radiology Department, Faculty of Medicine, Cairo University, Kasr Al-Ainy St, 11562 Cairo, Egypt
c) Tufts University School of Medicine, Division of Pulmonary, Critical Care and Sleep Medicine, Boston, MA, USA
d) Barbara Volcker Center for Women and Rheumatic Diseases, Hospital for Special Surgery, Weill Cornell Medicine, New York, NY 10021, USA
e) Morecambe Bay University Hospitals Lancaster, Lancashire, Ashton Rd, Lancaster LA1 4RP, United Kingdom
f) Innere Medizin III (Kardiologie/Angiologie), Universitätskliniken des Saarlandes, Kirrberger Straße, D 66421 Homburg/Saar, Germany
g) Department of Pulmonary medicine, Dubrava University Hospital, AvenijaGojkaŠuška 6, 10000 Zagreb, Croatia
h) Department of Medicine, Sultan Qaboos University Hospital, 123, Al-Khoud, Muscat, Oman
i) Rheumatology and Rehabilitation Department, Faculty of Medicine, Suez Canal University, Ismailia 4.5 Km the Ring Road, 41522 Ismailia, Egypt
j) Internal Medicine and Endocrinology Department, Fattouma Bourguiba University Hospital, University of Monastir, Rue du 1er juin 1955, Monastir 5019, Tunisia
k) Servicio de Clínica Médica, Hospital Británico de Buenos Aires, Perdriel 74, C1280 AEB Buenos Aires, Argentina
l) Pediatric Cardiology and Adult Congenital Unit, S. Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy
m) Department of Cardiology, Topiwala National Medical College & B.Y.L Nair Charitable Hospital, Dr. A.L. Nair road, Mumbai 400008, Maharashtra, India
n) Department of Radiology, Section of Vascular and Interventional Radiology, Jackson Memorial Hospital, University of Miami Miller School of Medicine, Miami, FL, USA
o) Clinical Department of Medical, Surgical and Health Science, University of Trieste, Piazzale Europa, 1, 34127 Trieste, TS, Italy
p) Department of Internal Medicine, HediChaker Hospital, 3029 Sfax, Tunisia
q) Public health Department, Faculty of medicine, Cairo University, Kasr Al-Ainy St, 11562 Cairo, Egypt
r) Chest Diseases Department, Faculty of Medicine, Alexandria University – Al kartoom square, al Azareta, Alexandria 21526, Egypt
s) Department of Paediatrics, Division of Nephrology, The Hospital for Sick Children, Toronto, ON, Canada
t) Department of Radiology, Badr Hospital, Faculty of medicine, Helwan University, Egypt
u) University of Miami Miller School of Medicine, Department of Neurology, Miami, FL, USA
v) Department of General Medicine, All India Institute of Medical Sciences (AIIMS), Guwahati, India
w) Division of Pulmonology, Department of Medicine, Sultan Qaboos Comprehensive Cancer Care and Research Centre, Muscat, Oman
x) Department of Cardiology, Apollo Hospitals, Jubilee Hills, Hyderabad 500096, India
y) Radiology department, Dr Erfan General hospital, Jeddah, Saudi Arabia
z) Department of Internal Medicine, Mohammed V Military Teaching Hospital, Mohammed V-Souissi University, School of Medicine, Rabat, Morocco
aa) Unidad de Enfermedades Respiratorias, Hospital Regional de Talca, Calle 1 Norte 1990, Talca, Chile
ab) Serviço de Reumatologia, Hospital das Clínicas, Faculdade de Medicina, Universidade Federal de Goiás, Goiânia, GO, Brazil
ac) Departamento de Radiologia, Instituto Estadual do Cérebro Paulo Niemeyer, R. do Rezende, 156 – Centro, 20231-092 Rio de Janeiro, RJ, Brazil
ad) Pulmonary Division, Department of Medicine, King Saud University for Health Sciences, King Abdulaziz Medical City, Riyadh 11426, Saudi Arabia
ae) Cardiology Department, Hospital Puerta de HierroMajadahonda, C/Joaquin Rodrigo 3, Madrid 28222, Spain
af) Department of Dermatology and Venerology, Izmir KatipÇelebi University Faculty of Medicine, Karabağlar, Izmir, Turkey
ag) Service d’immunologieclinique et médecine interne, centre de référence des maladies auto-immunes systémiquesrares (RESO), hôpitauxuniversitaires de Strasbourg, nouvelhôpital civil, 67091 Strasbourg, France
ah) UFR médecine Strasbourg, université de Strasbourg, 67000 Strasbourg, France
ai) Department of Cardiovascular and Thoracic Surgery, Cheonan Chungmu Hospital, 8 Dagamal 3-gil Seobuk-gu, Cheonan-si, Chungcheongnam-do, Republic of Korea
aj) Division of Rheumatology and Systemic Inflammatory Diseases, University Hospital Hamburg-Eppendorf (UKE), Hamburg, Germany
ak) Internal Medicine Department, Rheumatology Unit, Faculty of Medicine, Mansoura University, Mansoura, Egypt
al) Department of Emergency Radiology, Careggi University Hospital, Florence, Italy
am) Department of Radiology, Fattouma Bourguiba University Hospital, University of Monastir, Monastir, Tunisia
an) Division of Pulmonary and Critical Care Medicine, Philippine Heart Center, Quezon City, Philippines
ao) Nursing Medical Surgical Critical Care Department, Minia University, Minia, Egypt
ap) Faculty of Behavioral, Management and Social Sciences, Department Psychology, Health and Technology, University of Twente, Drienerlolaan 5, 7522NB Enschede, the Netherlands
Abstract
Background and aim
Hughes-Stovin syndrome (HSS) is a rare systemic vasculitis with widespread venous/arterial thrombosis and pulmonary vasculitis. Distinguishing between pulmonary embolism (PE) and in-situ thrombosis in the early stages of HSS is challenging. The aim of the study is to compare clinical, laboratory, and computed tomography pulmonary angiography (CTPA) characteristics in patients diagnosed with PE versus those with HSS.
Methods
This retrospective study included 40 HSS patients with complete CTPA studies available, previously published by the HSS study group, and 50 patients diagnosed with PE from a single center. Demographics, clinical and laboratory findings, vascular thrombotic events, were compared between both groups. The CTPA findings were reviewed, with emphasis on the distribution, adherence to the mural wall, pulmonary infarction, ground glass opacification, and intra-alveolar hemorrhage. Pulmonary artery aneurysms (PAAs) in HSS were assessed and classified.
Results
The mean age of HSS patients was 35 ± 12.3 years, in PE 58.4 ± 17 (p < 0.0001). Among PE 39(78 %) had co-morbidities, among HSS none. In contrast to PE, in HSS both major venous and arterial thrombotic events are seen.. Various patterns of PAAs were observed in the HSS group, which were entirely absent in PE. Parenchymal hemorrhage was also more frequent in HSS compared to PE (P < 0.001).
Conclusion
Major vascular thrombosis with arterial aneurysms formation are characteristic of HSS. PE typically appear loosely-adherent and mobile whereas “in-situ thrombosis” seen in HSS is tightly-adherent to the mural wall. Mural wall enhancement and PAAs are distinctive pulmonary findings in HSS. The latter findings have significant therapeutic ramifications.