Nadir görülen birliktelik: Kombine faktör V ve VIII eksikliği

Öz

Kombine faktör V (FV) ve faktör VIII (FVIII) eksikliği, nadir görülen ve hafif-orta şiddette kanama ile karakterize faktör eksikliklerinden birisidir. Otozomal resesif geçiş gösteren genetik bir bozukluktur. Normal trombosit düzeyi; hem PT, hem aPTT\'de uzama ile karakterizedir. Tedavi kanama kontrolunun sağlanması şeklinde olur. Bunun için taze donmuş plazma (TDP), desmopressin, spesifik FVIII konsantreleri (plazma kökenli veya rekombinant) kullanılabilir. Genel popülasyonda oldukça nadir görülmesi nedeniyle, kombine FV ve FVIII eksikliği olan bir olguyu sunduk.

Anahtar Kelimeler

• Nadir faktör eksikliği, tedavi, taze donmuş plazma

A rare combination: Combined factor V and factor VIII deficiency

Abstract

Combined factor V (FV) and factor VIII (FVIII) deficiency is a rare factor deficiency with mild-moderate hemorrhage. It is an autosomal recessive coagulation disorder . Prolonged prothrombin time and partial thromboplastic time is characteristic, platelet count remains in normal ranges. The main stay of treatment is to control the hemorrhage. Fresh frozen plasma, desmopressin, specific FVIII concentrates (plasma- derived or recombinant) may be used. Being very rare in the general population, we present a case with a combined FV and FVIII deficiency. J Clin Exp Invest 2014; 5 (2): 323-325

Keywords

• Rare bleeding disorder, treatment, fresh frozen plasma

Kaynakça

1. Zhang B. Recent developments in the understanding of the combined deficiency of FV and FVIII. B J Haema- tol 2009;145:15-23.
2. Oeri J, Matter M, Isensehmid H, et al. Congenital factor V deficiency (parahemophilia) with true hemophilia in two brothers (In German). Bibl Paedatr 1954;58:575- 578.
3. Seligsohn U, Zivelin A, Zwang E. Combined factor VIII deficiency among non-Ashkenazi Jews. N Eng J Med 1982;307:1191-1195.
4. Spreafico M, Peyvandi F. Combined FV and FVIII defi- ciency. Haemophilia 2008;14:1201-1208.
5. Mannucci PM, Duga S, Peyvandi F. Recessively in- herited coagulation disorders. Blood 2004;104:1243- 1252.
6. Albayrak M, Çelebi H, Öneç B, ve ark. Beklenmeyen kanama ile başvuran ve taze donmuş plazma tedavi- sine yanıtsız nadir görülen bir kanama diyatezi olgusu: Faktör XIII eksikliği. J Clin Exp Invest 2012;3:123-126.
7. Peyvandi F, Tuddenham EG, Akhtari AM, et al. Bleed- ing symptom in 27 Iranian patients with the com- bined deficiency of factor V and VIII. Br J Haematol 1998;100:773-776.
8. Mansouritorghabeh H, Manavifar L, Banihashem A, et al. An investigation of the spectrum of common and rare inherited coagulation disorders in north-eastern Iran. Blood Transfus 2013;11:233-240.

9. Seligsohn U, Ginsburg D. Deciphering the mystery of combined factor V and factor VIII deficiency. J Thromb Haemost 2006;4:927-931.
10. Jayandharan G, Spreafico M, Viswabandya A, et al. Mutations in the MCFD gene are predominant among patients with hereditary combined FV and FVIII de- ficiency (F5F8D) in India. Haemophilia 2007;13:413- 419.
11. Zheng C, Zhang B. Combined deficiency of coagu- lation factors V and VIII: an update. Semin Thromb Hemost 2013;39:613-620.
12. Zhang B, McGee B, Yamaoka JS, et al. Combined de- ficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. Blood 2006;107:1903- 1907.
13. Yılmaz C, Başarslan F, Güven AS, ve ark. Lomber ponksiyon sonrası paraparezi ile belirti veren Hemofili A olgusu. Dicle Med J 2011;38:511-513.
14. Di Paola J, Nugent D, Young G. Current therapy for rare factor deficiencies. Haemophilia 2011;7(Suppl 1):16-22.
15. Bolton-Maggs PH, Perry DJ, Chalmers EA, et al. The rare coagulation disorders-review with guidelines for management from the United Kingdom Haemo- philia Centre Doctors’ Organisation. Haemophilia 2004;10:593-628.