Rare factor deficiencies in children: A review of 23 cases from a single center

Year 2023, , 396 - 401, 06.09.2023

Özlem Terzi

https://doi.org/10.26453/otjhs.1320709

Abstract

Objective: The prevalence of rare factor deficiency (RFD) is one in 500.000-2.000.000 in the general population. Different symptoms may occur from mild or moderate bleeding to severe and life-threatening bleeding. This study aimed to evaluate children with RFD in a single Turkish center.
Materials and Methods: The records of children with RFD (Factor I, V, VII, X, XIII deficiency) were evaluated retrospectively.
Results: Twenty-three cases (70% female) were reviewed. The mean age of patients was 9.52 years at review, and mean follow-up was 66.3 months. The most common factor (F) deficiencies were FVII (35%) and FX (35%). Parental consanguinity was present in 65%. The most common symptoms were mucocutaneous bleeding and epistaxis. Regarding treatment, fresh frozen plasma (FFP) was given to two patients, FXIII concentrate was given to one patient, and prothrombin complex concentrate (PCC) was given to two patients. Prophylaxis was started in patients with recurrent bleeding. Of the 16 receiving prophylaxis, three received FFP, seven received recombinant coagulation factor VIIa, and six received PCC.
Conclusion: Treatment was given to a fifth of patients while nearly three-quarters received prophylaxis. As parental consanguinity was present in most of these patients, obtaining a detailed family history may aid in diagnosis.

Keywords

Child, factor, hemorrhage, rare factor deficiencies

Project Number

0.

Çocuklarda nadir faktör eksiklikleri: Tek merkezden 23 vakanın gözden geçirilmesi

Abstract

Amaç: Nadir faktör eksikliğinin (NFE) prevalansı genel popülasyonda 500,000-2,000,000'de birdir. Hafif veya orta dereceli kanamalardan şiddetli ve hayatı tehdit eden kanamalara kadar farklı semptomlar ortaya çıkabilir. Bu çalışmanın amacı tek bir Türk merkezinde RFD'li çocukları değerlendirmektir.
Materyal ve Metot: Nadir faktör eksikliği (Faktör I, V, VII, X, XIII eksikliği) olan çocukların kayıtları retrospektif olarak değerlendirildi.
Bulgular: Yirmi üç olgu (%70 kadın) retrospektif olarak incelendi. İnceleme sırasında hastaların ortalama yaşı 9.52 idi ve ortalama takip süresi 66.3 aydı. En yaygın faktör (F) eksiklikleri FVII (%35) ve FX (%35) idi. Anne baba akrabalığı %65 oranında mevcuttu. En sık görülen semptomlar mukokutanöz kanama ve epistaksis idi. Tedavi açısından iki hastaya taze donmuş plazma (TDP), bir hastaya FXIII konsantresi, iki hastaya protrombin kompleks konsantresi (PCC) verildi. Tekrarlayan kanaması olan hastalara profilaksi başlandı. Profilaksi alan 16 kişiden üçü TDP, yedisi rekombinant pıhtılaşma faktörü VIIa ve altısı PCC aldı.
Sonuç: Hastaların beşte birine tedavi verilirken, yaklaşık dörtte üçüne profilaksi uygulandı. Bu hastaların büyük çoğunluğunda anne baba akrabalığı mevcut olduğundan ayrıntılı aile öyküsünün alınması tanıya yardımcı olabilir.

Keywords

Çocuk, faktör, kanama, nadir faktör eksiklikleri

Supporting Institution

Yok.

Project Number

0.

References

• Uzel VH, Yilmaz K, Oncel K, Tekin S, Soker M. Evaluation of 36 patients with rare factor deficiency. J Curr Pediatr. 2021;19:162-167. doi:10.4274/jcp.2021.0021
• Peyvandi F, Menegatti M, Palla R. Rare bleeding disorders: Worldwide efforts for classification, diagnosis, and management. Semin Thromb Hemost. 2013;39(6):579-584. doi:10.1055/s-0033-1349221
• Bilici M, Karaman S. Differential diagnosis in rare coagulation disorders. J Adv Res. 2019;3. doi:10.26650/JARHS2019-650402
• Menegatti M, Peyvandi F. Treatment of rare factor deficiencies other than hemophilia. Blood. 2019;133:415-24. doi:10.1182/blood-2018-06-820738
• Hoda M, Akbar D, Shadi T, Majid N, Farhad Z. Noninvasive prenatal diagnosis of congenital factor XIII deficiency in Iran. Blood Coagul Fibrinolysis. 2022;33(3):167-170. doi:10.1097/MBC.0000000000001121
• Mansouritorghabeh H. Consanguineous marriage and rare bleeding disorders. Expert Rev Hematol. 2021;14(5):467-472. doi:10.1080/17474086.2021.1923476
• Al-Rahal NK. Inherited bleeding disorders in Iraq and consanguineous marriage. Int J Hematol Oncol Stem Cell Res. 2018;12(4):273-281.
• Ahmadi SE, Jazebi M, Bahoush G, Baghaipour MR, Ala F, Tabibian S.  Congenital combined bleeding disorders, a comprehensive study of a large number of Iranian patients. Clin Appl Thromb Hemost. 2021;27:1076029621996813. doi:10.1177/1076029621996813
• Eroglu N, Erduran E, Bahadir A, Saruhan H. Rare factor deficiencies: A retrospective, single-center cohort study. J Acad Res Med. 2020;10(3):232-6. doi:10.4274/jarem.galenos.2020.3662
• Tugcu D, Salcioglu Z, Akcay A, et al. How do we encounter rare factor deficiencies in children? Single-centre results from Turkey. Blood Coagul Fibrinolysis 2015;26:145-51. doi:10.1097/MBC.0000000000000204
• Turkish Statistical Institute, https://data.tuik.gov.tr/Bulten/Index?p=Istatistiklerle-Aile-2021-45632. Accessed May 12, 2022.
• Elhadi I, Saed E, Elhory O, Abdallah S, Adam I. Rare clotting factor deficiency among Sudanese children. Blood Coagul Fibrinolysis. 2019;30(6):277-280. doi:10.1097/MBC.0000000000000834
• Anwar WA, Khyatti M, Hemminki K. Consanguinity and genetic diseases in North Africa and immigrants to Europe. Eur J Public Health. 2014;24Suppl1:57-63. doi:10.1093/eurpub/cku104
• Akdeniz A, Unuvar A, Ar MC, et al. Results of multicenter registry for patients with inherited factor VII deficiency in Turkey. Scand J Clin Lab Invest. 2022;82(1):28-36. doi:10.1080/00365513.2021.2013524
• Park YH, Lim JH, Yi HG, Lee MH, Kim CS. Factor V deficiency in Korean patients: Clinical and laboratory features, treatment, and outcome. J Korean Med Sci. 2016;31(2):208-13. doi:10.3346/jkms.2016.31.2.208
• Gelen SA, Sarper N, Zengin E. Bleeding characteristics and management of minor surgeries in rare bleeding disorders: report from a Turkish pediatric hematology center. Turk J Pediatr 2020;62(4):584-593. doi:10.24953/turkjped.2020.04.008
• Uzer F, Ozdemir T. Factor VII deficiency as a rare cause of pulmonary thromboembolism. Respir Case Rep. 2018;7(3):166-168. doi:10.5505/respircase.2018.30085
• Khudhair AA, Salih AAM, Kadhum AJ. Congenital factor VII deficiency in Iraqi children (Single Centre Experience). Pak J Med Sci. 2020;36(2):177–181. doi:10.12669/pjms.36.2.666
• Acipayam C, Duyuran O, Akgungor F, Dincer Z. Newly diagnosis patients with a rare factor deficiency: Five years experience. KSU Medical Journal. 2019;14(3):110-113. doi:10.17517/ksutfd.540503
• Peyvandi F, Menegatti M. Treatment of rare factor deficiencies in 2016. Hematology Am Soc Hematol Educ Program. 2016;2016(1):663–669. doi:10.1182/asheducation-2016.1.663
• Franchini M, Marano G, Pupella S, et al. Rare congenital bleeding disorders. Ann Transl Med. 2018;6(17):331.  doi: 10.21037/atm.2018.08.34