Page 32 - Demo

Manasa, et al.: Hemoperitoneum in factor V and factor VIII deficiencyMOGS Chronicles | Volume 1 | Issue 1 | September 2024 25On discharge her Hb was 9.2 g %, WBC was 8440 cells/mm3, Platelets were 1.6 Lakhs. PT was 16.6 (control-13.8), INR was 1.5. Factor assay done at the time of discharge revealed a value of Factor VIII -18% of normal pooled plasma (NR - 50%u2013150%) and Factor V - 60% of normal pooled plasma (NR- 50%u2013150%). Follow up ultrasound after 3months revealed reduction in size of adnexal mass to 43*35mm.DiscussionThe combined Factor V and Factor VIII deficiency (F5F8D) disorder results from gene mutations in either two genes LMAN1 (chromosome 18; 18q21) or MCFD2 (chromosome 2; 2p21).[2] The two genes produce the ERGIC-53/MCFD2 protein complex, which serves as a cargo receptor, transporting coagulation factors V and VIII to the Golgi apparatus. LMAN1 mutations explain around 70% of cases and solely comprise null mutations.[3]MCFD2 mutations occur in about 30% of cases and include both null and missense variants.[4]Normal levels of Factor V and factor VIII levels should be between 50% and 150%. Symptoms like epistaxis, menorrhagia, easy bruising, bleeding following trauma or surgery, and to a lesser extent, hemarthrosis and muscle hematomas are the most prevalent.[5] Replacement of the factors is the treatment, though regular prophylaxis is not necessary, Prophylaxis should be considered in situations of recurrent hemarthrosis or intramuscular haemorrhage.FFP regimen can effectively limit bleeding during tooth extractions, circumcision, and labour preparation. The overall prognosis for mild illness is good. Severe variety of the disease should be treated at tertiary care centres along with haematologists.ConclusionThe Factor V and factor VIII deficiency is more prevalent in areas where consanguinity is common. The disorder should be suspected in any patient with prolonged aPTT, PT and elevated INR. Management in form of regular replacement with FFP and Factor concentrates is reserved for recurrent severe bleeding.DeclerationDisclosures Human subjectsConsent for the use of case details taken from the patient.Conflicts of interestNone.In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work.Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work.References1. Zheng C, Zhang B. Combined deficiency of coagulation factors V and VIII: An update. Semin Thromb Hemost 2013;39:613-20.2. Zhang B, Spreafico M, Zheng C, Yang A, Platzer P, Callaghan MU, et al. Genotype-phenotype correlation in combined deficiency of factor V and factor VIII. Blood 2008;111:5592-600.3. Alsheikh S, Alghamdi R, Alqatari A, Alfareed A, AlSaleh M. Combined factor V and VIII deficiency with LMAN1 mutation: A report of 3 Saudi siblings. Am J Case Rep 2022;23:e937312.4. Ivaskevicius V, Windyga J, Baran B, Bykowska K, Daugela L, Watzka M, et al. The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene. Blood Coagul Fibrinolysis 2008;19:531-4.5. Peyvandi F, Tuddenham EG, Akhtari AM, Lak M, Mannucci PM.Bleeding symptoms in 27 Iranian patients with the combined deficiency of factor V and factor VIII. Br J Haematol 1998;100:773-6.%u00a9 The Author(s). 2024 Open Access. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons. org/licenses/by-nc/4.0/), which permits unrestricted use, distribution, and non-commercial reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/ zero/1.0/) applies to the data made available in this article, unless otherwise stated.Editor%u2019s NoteA combined Factor V and Factor VIII deficiency (F5F8D) is extremely rare genetic disorder with prevalence of 1:1,000,000 in the general population. This disorder is common in areas where consanguinity is more prevalent.This case report highlights the complexities of this autosomal recessive disorder and sheds light on the challenges faced by individuals living with it, particularly concerning bleeding management and the need for specialized care. A high index of suspicion should be kept for patient with prolonged aPTT, PT and elevated INR. Management strategy involves a multidisciplinary approach with conjunction with haematologist, replacing the factors and FFP to prevent bleeding from surgical procedure. Antiplatelets and COC can be considered in cases of heavy menstrual bleeding in these cases.Figure 1: Trans abdominal sonography showing right adnexal mass with hemoperitoneumHow to cite this article: Manasa KK, Warke HS, Valvi DD, Rane PB, Shanmukhaiah C. Hemoperitoneum in a Known Case of Combined Factor V and Factor VIII Deficiency: ACase Report. MOGS Chronicles 2024;1(1):24-25.