Page 31 - Demo

24 MOGS Chronicles | Volume 1 | Issue 1 | September 2024IntroductionThe combined factor V and factor VIII deficiency (F5F8D) is a relatively uncommon autosomal recessive constitutional haematological disorder.[1] The condition was first identified in 1954 by Oeri et al. The estimated prevalence is 1 in 100,000.The frequency of such disorders increases 8%u201310-fold with consanguinity. Easy bruising, epistaxis, menorrhagia, gum bleeding, and soft-tissue bleeding are some of the common presenting symptoms. Bleeding time and platelet count are normal while aPTT and PT are prolonged and INR is elevated.To reach a diagnosis, further factor testing and advanced genetic analysis needs to be performed. Successful management to prevent bleeding from surgical procedure includes the administration of specific factor and fresh frozen plasma.Case PresentationThis was a case of a 22-year-old female, married for one year with known factor V and factor VIII deficiency (F5F8D) presenting with pain in abdomen for 4 days, dull aching, continuous, non-radiating in nature. She did not have any bowel or menstrual complaints. She was detected with combined factor V and factor VIII deficiency at age of 5 years following an episode of prolonged bleeding at injury site on left upper limb following an accidental fall. She had multiple hospital admissions for heavy menstrual bleeding with multiple FFP and factor VIII transfusions and was started on combined oral contraceptive pills for the same.At presentation in emergency patient was vitally stable, abdomen was soft with no guarding, tenderness. On vaginal examination uterus was normal size, deviated to left side with mass in right fornix about 6*6 cm, firm to cystic in consistency, non-tender. The mass was felt separate from the uterus with restricted mobility. There was no cervical motion tenderness. Left fornix free and non-tender. Urine pregnancy test was negative.At 5 years of age the patient was diagnosed to have combined Factor V and Factor VIII Deficiency, with laboratory parameters of PT, 22.5(control-12.9) and aPTT, 78.8(control-28.6). Factor assay revealed a value of Factor VIII to be 2.2% of normal pooled plasma (NR-50-150%) and Factor V to be 2.6% of normal pooled plasma (NR-50-150%).Blood investigations at presentation with abdominal pain were Hb of 9.1 g%, WBC of 9500 cells/mm3, Platelet 2.02 lakhs, prothrombin time (PT) 20.55 (control- 13.7), INR 1.64, Fib-449.14 (Normal range 200-400 mg/dL), with D Dimer value of 1.10mg/L (Normal range <1.7 mg/dl).Ultrasound was suggestive of a right adnexal mass measuring 72*56 mm with minimal hemoperitoneum [Figure 1]. A clinical diagnosis of right adnexal mass with hemoperitoneum in a known case of combined factor V and factor VIII deficiency was made.She was managed conservatively with factor VIII and FFP transfusions. Management included monitoring of her vital parameters, abdominal girth, blood parameters and ultrasound at serial intervals. Factor VIII transfusion of 1250IU for 4 days was given with the dose calculation according to the body weight and nature of bleeding by hematologist. Factor 5 correction was given by 4 FFP transfusions on admission.Injection tranexamic acid 1 g thrice daily for 2 days was given followed by tablet tranexamic acid 500 mg thrice daily for 7 days to prevent further bleeding. Cyclical combined oral contraceptives pills started. Patient was discharged on day 5 following admission when she was hemodynamically stable and had no complaints.Factor V and VIII deficiency (F5F8D) is a rare autosomal recessive coagulopathy. We report a case of a 22-year-old nulligravida, who presented with complaints of pain in the lower abdomen. Coagulation profile revealed prolongation of activated partial thromboplastin time (aPTT), prothrombin time (PT), and elevated international normalized ratio (INR). The deficiency of factor V and factor VIII was confirmed with factor test revealing reduced activities of factor V and VIII. Combined deficiency of factors V and VIII should be considered in differential diagnosis of patients with prolonged aPTT, PT and elevated INR. Medical management is reserved for patients presenting with symptoms and signs. The patient was managed conservatively by administration of Factor VIII and Fresh frozen plasma.Keywords: %u200aFactor V deficiency, Factor VIII deficiency, F5F8DHemoperitoneum in a Known Case of Combined Factor V and Factor VIII Deficiency: A Case ReportK. K. Manasa1, Himangi S. Warke1, Durga D. Valvi1, Priyanka B. Rane1, Chandrakala Shanmukhaiah21Department of Obstetrics and Gynaecology, Seth G. S. Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India, 2Department of Haematology, Seth G. S. Medical College and KEM Hospital, Parel, Mumbai, Maharastra, IndiaAddress for correspondence: Dr. K. K. Manasa, Department of Obstetrics and Gynaecology, Seth G. S. Medical College and KEM Hospital, Parel, Mumbai, Maharastra, India. Phone: +91-7012721426. E-mail: manasamohan990@gmail.comCase ReportAbstract