RT Book, Section
A1 Peyvandi, Flora
A1 Menegatti, Marzia
A2 Kaushansky, Kenneth
A2 Prchal, Josef T.
A2 Burns, Linda J.
A2 Lichtman, Marshall A.
A2 Levi, Marcel
A2 Linch, David C.
SR Print(0)
ID 1180469376
T1 Inherited Deficiencies of Coagulation Factors II, V, V+VIII, VII, X, XI, and XIII
T2 Williams Hematology, 10e
YR 2021
FD 2021
PB McGraw-Hill Education
PP New York, NY
SN 9781260464122
LK hemonc.mhmedical.com/content.aspx?aid=1180469376
RD 2024/04/19
AB SUMMARYRare  bleeding  disorders  (RBDs),  accounting  for  the  3%  to  5%  of  patients  with  abnormal  hemostasis,  include  the  inherited  deficiencies  of  coagulation  factor  II  (prothrombin),  factor  V,  combined  factor  V/VIII,  factor  VII,  factor  X,  factor  XI,  factor  XIII,  and  fibrinogen.  The  prevalence  of  RBDs  is  variable,  both  the  relative  frequency  among  the  different  factors  and  frequency  in  different  regions  of  the  world.  The  genetic  transmission  of  these  disorders  is  usually  autosomal  recessive.  Bleeding  manifestations  caused  by  these  inherited  deficiencies  are  of  variable  severity  and  usually  related  to  the  extent  of  the  decreased  activity  of  the  particular  coagulation  factor.  Usually,  only  homozygous  and  compound  heterozygous  patients  are  symptomatic,  although  occasionally  heterozygotes  display  a  bleeding  tendency.  On  the  whole,  the  most  typical  symptom,  common  to  all  RBDs,  is  the  occurrence  of  mucosal  bleeding,  whereas  life-endangering  bleeding,  such  as  CNS  or  umbilical  cord  bleeding,  is  more  frequent  only  in  some  deficiencies,  such  as  afibrinogenemia,  severe  factor  XIII  and  factor  X  deficiencies,  characterized  by  very  low  or  undetectable  coagulant  activity.  Treatment  of  patients  affected  with  the  various  coagulation  factor  deficiencies  could  be  (a)  on  demand  for  spontaneous  bleeding  episodes,  (b)  during  the  management  of  surgical  procedures,  and  (c)  for  prevention  of  bleeding  by  prophylaxis.  Because  of  the  rarity  of  these  disorders  and  the  technical  limitations  of  laboratory  testing  and  the  lack  of  specific  concentrates,  a  unified,  evidence-based  therapeutic  approach  for  each  RBD  is  not  always  available.  To  overcome  these  limitations,  global  partnerships  and  networking  between  treatment  centers  have  been  developed  to  increase  our  knowledge  and  create  platforms  for  researchers  and  clinicians  to  exchange  information.