The first reported case of factor V Leiden mutation with agenesis of superior vena cava: A case report.

Rationale: Total absence of superior vena cava (ASVC) is a very rare anomaly, and the patient usually suffers from superior vena cava syndrome (SVCS) or conduction disturbances.

Patient Concerns: We report a 36-year-old white male, born and living in Brazil, without comorbidities presented to hematologist thrombotic episodes even under anticoagulant therapy. On his first hematologic appointment, he had no active complaints except by the fullness after meals, and his physical examination presented remarkable collateral circulation in the chest.

Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report.

Background: Thrombotic thrombocytopenic purpura is a very rare hereditary blood deficiency disorder of ADAMTS13 (von Willebrand factor-cleaving protease) and a life-threatening thrombotic microangiopathy characterized by thrombocytopenia and microangiopathic hemolytic anemia. The deficiency in ADAMTS13 metalloprotease, which cleaves the von Willebrand factor, may be congenital or acquired. The congenital form is caused by inherited mutations in the ADAMTS13 gene.