Kouides P A, Kulzer L
Mary M. Gooley Hemophilia Center, Inc. of Rochester, NY, USA.
Haemophilia. 2001 Mar;7(2):220-3. doi: 10.1046/j.1365-2516.2001.00485.x.
Factor X (FX) deficiency is an autosomal recessive trait that occurs in fewer than 1 in 500 000 people. Not surprisingly, reports of prophylactic treatment for FX deficiency are exceedingly rare. We now report our experience of the use of prophylactic therapy in a FX-deficient patient. This 18-year-old African-American male presented at the age of 4(1/2) years with an FX level < 1%. Treatment was on demand with prothrombin complex concentrates (PCCs) given at two times the dose per kilogram of body weight for factor IX. He experienced frequent epistaxis, soft tissue bleeding and joint bleeding. The development of a target joint (right ankle) prompted the initiation of prophylactic treatment in the beginning of 1998 to the present with 30 units kg(-1) Profilnine twice per week via a home infusion programme. If breakthrough bleeding occurred, he was instructed to infuse another dose. He was instructed that Profilnine should not be infused in more than two doses in 24 h or on more than three consecutive days. A trough level drawn 48 h post-infusion showed an FX level of 30%. In the initial 12 months with prophylactic treatment, there was no breakthrough bleeding. Subsequently, with an additional 11 months of follow-up, he has reported one bleed. He rates his quality of life improved since starting prophylactic treatment. There have been no thrombotic events. Prophylaxis with PCC for FX deficiency with adequate education and follow-up can be performed capably in the home setting with a resultant decrease in the frequency of bleeding and attendant complications.
凝血因子X（FX）缺乏症是一种常染色体隐性性状，在每50万人中发病少于1人。毫不奇怪，关于FX缺乏症预防性治疗的报道极为罕见。我们现在报告我们对一名FX缺乏症患者使用预防性治疗的经验。这名18岁的非裔美国男性在4岁半时就诊，FX水平<1%。治疗按需使用凝血酶原复合物浓缩剂（PCCs），每千克体重给予因子IX剂量的两倍。他经常鼻出血、软组织出血和关节出血。目标关节（右踝关节）的出现促使在1998年初开始至今进行预防性治疗，通过家庭输注方案每周两次给予30单位/千克的Profilnine。如果发生突破性出血，他被指示输注另一剂。他被告知Profilnine在24小时内输注剂量不得超过两剂，连续天数不得超过三天。输注后48小时抽取的谷值水平显示FX水平为30%。在预防性治疗的最初12个月里，没有发生突破性出血。随后，在额外的11个月随访中，他报告了一次出血。他认为自开始预防性治疗以来生活质量有所改善。没有发生血栓事件。对FX缺乏症患者进行PCC预防，并给予充分的教育和随访，可以在家庭环境中有效实施，从而减少出血频率和相关并发症。
