Factor VII Deficiency - A Restrospective Case Review.

Abstract

Factor VII deficiency is a rare autosomal recessive disorder. Its incidence is thought to be 1 in 500,000. Symptoms vary from mild to severe. Factor VII deficient patients usually do not experience bleeding if their level of factor VII is less than 10%. Manifestations are seen with levels less than 5%, and severe bleeding can occur with levels less than 1%. Surgical hemostasis is obtained with levels greater than 25%. Factor VII deficiency is notable for causing a prolonged PT with a normal aPTT, making the diagnosis easy to determine. This is a descriptive study based on a population of patients from our community based teaching hospital with severe Factor VII deficiency. We reviewed lab data and found any patients with less than a 5% factor deficiency from March 2004- June 2006. In our experience we have noted varying manifestations in moderate factor deficiency patients. We describe four patients with varying symptoms, all with factor levels less than 3%. Their charts were reviewed, and three of the patients were available for a telephone interview. Patient A is a 75 yo African American female found to have factor deficiency after an increased Prothrombin time (PT) of 31.2 seconds, INR 5.9, and Partial thromboplastin time (PTT) of 34.9 seconds on routine blood work. This patieny’s factor level was found to be 1.86%. Patient A denied any history of bleeding complications, including an uncomplicated tooth extraction. Patient B is a 46 yo African American female with a long history of bleeding complications. Laboratory data revealed a PT of 26 seconds, INR 4.2, PTT 22 seconds and a Factor level of 1%. She experienced years of heavy menstrual periods and nose bleeds. A hysterectomy was performed secondary to bleeding fibroids. She required multiple doses of novoseven as well as FFP. Patient C was diagnosed at the age of 11. Laboratory results revealed a factor level of 1.87 %, and a PT of 25.1 seconds and an INR of 4.1. She has had minor bleeding events, such as gum bleeding. She did receive FFP prior to a foot surgery, and tooth extraction. Patient D is a 46 year old Hispanic man found to have and INR of 4.3 and, factor VII 1.45. Pt had an uncomplicated cholocystectomy. This is a descriptive study of four different patients with factor VII levels of less than 2%. These four cases demonstrate the wide range of clinical manifestations that factor VII patients may experience. One patient did require novoseven prior to a hysterectomy. Though, as our cases illustrate, some patients do not experience any bleeding manifestations, and therefore, prophylactic plasma may not be required. Furthermore, treatment of factor VII deficient patients needs to be individualized, and guided by personal history. Coagulation Studies of our Patients Patient Prothrombin Time INR Factor VII A 31.2 5.9 1.86% B 26 4.2 1% C 25.1 4.1 1.87% D 46 4.3 1.45%