Diffuse Venous Thrombosis

Abstract

A 29-year-old man presented with an 8-week history of lower extremity edema, neck vein distention, facial swelling, and headache. He had a 3-year history of paroxysmal nocturnal hemoglobinuria (PNH) managed with eculizumab. Computed tomography (CT) of the abdomen and pelvis revealed bilateral external iliac and common femoral venous occlusions with right-sided varicocele (Figure, A ). Computed tomography of the chest demonstrated bilateral obstruction of the internal jugular veins, innominate veins, superior vena cava (SVC), and collateralization (Figure, B). Magnetic resonance venography of the head showed thrombosis of the superior sagittal sinus associated with extensive collateralization within the scalp veins (Figure, C). Anticoagulation was started and angioplasty of the SVC was performed. Allogenic bone marrow transplantation was offered. Paroxysmal nocturnal hemoglobinuria is an acquired disorder affecting progenitor stem cells and thus all cell linages.1Devalet B. Mullier F. Chatelain B. Dogne J.M. Chatelain C. Pathophysiology, diagnosis, and treatment of paroxysmal nocturnal hemoglobinuria: a review.Eur J Haematol. 2015; 95: 190-198Crossref PubMed Scopus (68) Google Scholar A mutation of the PIGA gene results in a deficiency of the glycosyl phosphatidyl inositol anchor where CD55 and CD59 attach. This renders the PNH clonal cells prone to complement-mediated hemolysis with subsequent release of prothrombotic factors, nitric oxide depletion, and platelet activation leading to thrombosis, which is the leading cause of death.1Devalet B. Mullier F. Chatelain B. Dogne J.M. Chatelain C. Pathophysiology, diagnosis, and treatment of paroxysmal nocturnal hemoglobinuria: a review.Eur J Haematol. 2015; 95: 190-198Crossref PubMed Scopus (68) Google Scholar, 2Cornell L.F. Sacco K.A. Chirila R.M. 60-Year-old woman with headache and fatigue.Mayo Clin Proc. 2017; 92: e121-e125Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar, 3Hill A. Kelly R.J. Hillmen P. Thrombosis in paroxysmal nocturnal hemoglobinuria.Blood. 2013; 121 (quiz 5105): 4985-4996Crossref PubMed Scopus (292) Google Scholar Venous thromboses occur more often than arterial, and any site may be affected.4Brodsky R.A. Paroxysmal nocturnal hemoglobinuria.Blood. 2014; 124: 2804-2811Crossref PubMed Scopus (323) Google Scholar Because abdominal and cerebral veins are frequently involved, Budd-Chiari syndrome is the most common thrombotic event and superior sagittal sinus thrombosis the most common neurologic complication.3Hill A. Kelly R.J. Hillmen P. Thrombosis in paroxysmal nocturnal hemoglobinuria.Blood. 2013; 121 (quiz 5105): 4985-4996Crossref PubMed Scopus (292) Google Scholar, 4Brodsky R.A. Paroxysmal nocturnal hemoglobinuria.Blood. 2014; 124: 2804-2811Crossref PubMed Scopus (323) Google Scholar Anticoagulation and eculizumab are required, and thrombolysis or angioplasty may be used for life-threatening thromboses.1Devalet B. Mullier F. Chatelain B. Dogne J.M. Chatelain C. Pathophysiology, diagnosis, and treatment of paroxysmal nocturnal hemoglobinuria: a review.Eur J Haematol. 2015; 95: 190-198Crossref PubMed Scopus (68) Google Scholar, 3Hill A. Kelly R.J. Hillmen P. Thrombosis in paroxysmal nocturnal hemoglobinuria.Blood. 2013; 121 (quiz 5105): 4985-4996Crossref PubMed Scopus (292) Google Scholar Bone marrow transplantation is offered to patients who fail eculizumab, as in our case.2Cornell L.F. Sacco K.A. Chirila R.M. 60-Year-old woman with headache and fatigue.Mayo Clin Proc. 2017; 92: e121-e125Abstract Full Text Full Text PDF PubMed Scopus (1) Google Scholar