Plummer-Vinson Syndrome With Concomitant Factor VII Deficiency

Abstract

Background: Plummer-Vinson syndrome (PVS), a rare disorder characterized by dysphagia, iron deficiency anemia, and esophageal webs, has principally been described in middle-aged women. This disorder is uncommon in the 21 st century because of the abundance of iron-fortified foods. Clotting factor deficiencies are also rare. Factor VII deficiency is a bleeding disorder characterized by the absence of a critical protein in the coagulation cascade. Case Report: We present a case of PVS associated with factor VII deficiency in a 26-year-old African American female. The patient had a history of anemia that was repeatedly attributed to menstrual bleeding and dysphagia for 10 years. She presented with symptomatic anemia requiring transfusion. She reported a history of food getting stuck in her chest, and workup revealed esophageal webs with no evidence of overt luminal gastrointestinal bleeding. Coagulation laboratory tests revealed the incidental finding of a borderline increased prothrombin time. Hematologic studies confirmed the presence of factor VII deficiency. Conclusion: To our knowledge, no case has been published about a patient diagnosed with PVS and concomitant factor VII deficiency. Our case illustrates several learning points: (1) PVS is an uncommon disorder that may still be diagnosed in a developed country in the 21 st century; (2) PVS requires close follow-up and esophageal surveillance because of the increased risk of esophageal cancer; (3) factor VII exhibits a high degree of phenotypic variability; (4) phenotype in factor VII deficiency does not always correlate with factor VII activity, although life-threatening spontaneous bleeding is not expected with levels >2%.

Reproductive health and hemostatic issues in women and girls with congenital factor VII deficiency: A systematic review

“…Iron‐deficiency anemia was observed in 17 women (15%), associated with Plummer–Vinson syndrome in one case; 10,15,16,20,25,26,33,35,44 15 of these women had HMB. Only two women with anemia did not report HMB, including one who only exhibited anemia during pregnancy 12,16 …”

“…HMB was confirmed by pictorial blood assessment chart (PBAC; score >100) in 11 cases 24,29,31,33 . Acute episodes in which HMB was a presenting symptom that required hospitalization were reported in 16 (14%) women, detailed in Table 2 10,15,20,22,23,25,26,30,33,35,36,44 …”

“…36 Hormonal treatments included combined oral contraceptives (n = 10), 13,15,16,22,[25][26][27]36 progestogen-only treatment (n = 3), 10,20,25 and hormonal intrauterine devices (n = 3). 15,21 Two women were treated with a gonadotropin-releasing hormone analogue. 26,30 In six of these cases, hemostatic and hormonal treatments were used; in four women this continued long term and in two cases hormonal treatment was used long term.…”

“…20,25 Other hemostatic treatments included antifibrinolytics such as oral tranexamic acid (TXA; five cases, 12%) 20,[24][25][26][27] and intravenous prothrombin complex concentrate (one case, 2%). 36 Hormonal treatments included combined oral contraceptives (n = 10), 13,15,16,22,[25][26][27]36 progestogen-only treatment (n = 3), 10,20,25 and hormonal intrauterine devices (n = 3). 15,21 Two women were treated with a gonadotropin-releasing hormone analogue.…”

Serum ferritin: A hidden gem for diagnosing plummer vinson syndrome

“…The latter is based on the association between Plummer-Vinson syndrome and certain autoimmune disorders such as celiac disease, thyroid disease and rheumatoid arthritis. A case of Plummer-Vinson syndrome associated with concomitant blood factor VII deficiency has been reported by Kajy et al 2 The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia such as weakness, pallor, fatigue and tachycardia may dominate the clinical picture.…”