Familial Adenomatous Polyposis and Factor VII Deficiency in a Young Man

Abstract

To report a case of Familial adenomatous polyposis in a young man with concomitant Factor VII deficiency. A 29 y/o African American male presented with complaints of weakness and recent shortness of breath. He attributed the symptoms to several nosebleeds in the past six months. He denied any trauma or other medical history. Patient reported frequent nose bleeds for last six months though denied any vomiting, malena, hematochezia or other sources of bleeding. His father died at age of 42 with colon cancer and uncle also had colon cancer but denied any bleeding disorders in family. He was a smoker, occasional alcohol user but denied illicit drug abuse. On examination, he was tachycardic with blood pressure of 110/50. Rest of the exam was remarkable only for heme positive brown stool on rectal exam. Lab data showed hematocrit 11 with MCV 67, Platelet 473K, TIBC 431, Serum Iron 9 and Ferritin 3 ng/mL. His coagulation profile showed PTT elevated to 20.7 seconds and INR elevated to 1.8. He was admitted and received 3 units of packed red blood cells. With profound iron deficiency anemia and strong familial history of colon cancer, gastrointestinal consultation was sought. Panendoscopy was remarkable for innumerable polyps in colon. FAP was most plausible diagnosis. Biopsies revealed adenomatous polyps without high-grade dysplasia or malignancy. Coagulation parameters did not correct after transfusions. Mixing study showed correction of prothrombin time. Coagulation factor deficiency seemed possible cause. Factor VIII and IX were normal. Factor VII levels was drawn later, after hematology consultation, it was 12 (reference 70–130). A diagnosis of factor VII deficiency was made. He underwent colectomy and received recombinant factor VII perioperatively. Patient was counseled and genetic counseling was advised along with surveillance in other family members. This is an interesting presentation of two rare familial disorders in same patient. Familial adenomatous polyposis is autosomal dominant diseases caused by mutations in the adenomatous polyposis coli on chromosome 5q21. FAP occurs in approximately 1/10000–30000 live births, and accounts for less than 1 percent of the total colon cancer risk in the USA. With estimated prevalence of 1: 500 000, inherited FVII deficiency is also a rare, autosomal recessive coagulation disorders. The FVII gene (F7) is located on chromosome 13. There has been no reported link between these two relatively rare disorders and this might be just a coincidence or not!