Factor VII deficiency and factor X deficiency and very rare disorders individually. Combined Factor VII and X is a rare congenital blood disorder with very few cases reported in the literature. We report a case of 7 years old male child who presented to us as a diagnosed case of factor 7 deficiency with recurrent epistaxis

Arora, Sunita

Narang, Gursharan Singh

Pahwa, Jivtesh Singh

English

Cognitive Sciences ePrint Archive

Case Report:
Combined Factor VII and X Deficiency
Gursharan Singh Narang, Associate Professor,
Sunita Arora, Assistant Professor,
Jivtesh Singh Pahwa, Resident,
Department of Pediatrics, Sri Guru Ram Das Institute of Medical Sciences and Research, Vallah, Amritsar.
Address For Correspondence:
Dr. Gursharan Singh Narang,
Associate Professor,
Dept. of Pediatrics, 
Sri Guru Ram Das Institute of Medical Sciences and Research,
Vallah, Amritsar.
E-mail: gsnarang321@gmail.com
Citation: Narang GS, Arora S, Pahwa JS. Combined Factor VII and X Deficiency. Online J Health Allied Scs. 2010;9(4):17
URL: http://www.ojhas.org/issue36/2010-4-17.htm
Open Access Archives: http://cogprints.org/view/subjects/OJHAS.html and http://openmed.nic.in/view/subjects/ojhas.html
Submitted: Oct 25, 2010; Accepted Nov 2, 2010; Published: Jan 20, 2011
Abstract:
Factor  VII  deficiency and factor  X deficiency and very rare 
disorders  individually.  Combined Factor  VII  and X is a  rare 
congenital blood disorder with very few cases reported in the 
literature.  We  report  a  case  of  7  years  old  male  child  who 
presented to us as a diagnosed case of factor 7 deficiency with 
recurrent epistaxis.
Key Words: Combined factor VII and X deficiency
Introduction:
Incidence of isolated factor 7 deficiency is 1: 5,00,000 children1 
and  Homozygous  factor  X  deficiency  has  an  incidence  of 
1:1,000,000 in the general population.2 Only 50 cases of factor 
X deficiency have been reported worldwide.3 We report a case 
of  7  year  old  male  child  who  was  diagnosed  as  a  case  of  
combined factor VII and X deficiency.
Case Report:
We present the case of a 7 years old male child, who came to us 
with epistaxis since 2 days. Bleeding started without any ante-
cedent cause like nose picking or any trivial trauma. Child had 
persistent bleeding since past 12 hours with no relief from nose 
packing  and  ice  packs.  History  of  painless  hematuria  was 
present since one day.
Parents give history of fall from the stairs in the past about 3 
years back when child was playing. Since then child is having 
recurrent episodes of bleeding from the nose on and off without 
any aggravating factor. Also there is history of multiple purpur-
as on the body and oral mucosa. There were episodes of blood 
in the stools and urine at times.
Patient walks with a limp since 1 month, no history of trauma is 
present. On examination hemarthrosis of the left hip joint with 
limitation of movement was present. Multiple ecchymotic and 
purpuric patches present all over the body. History of repeated 
admissions in the past is present for management of bleeding 
diathesis and fresh frozen plasma transfusions since 2 years of 
age. 
Child was born by a non consanguineous marriage to a second 
gravida mother by normal vaginal delivery. At birth, there was 
purple patch on the ear and cheek on the left side, which re-
solved itself within 15 to 20 days of life. Elder sibling is a 9 
year female child with no history of similar illness in her or any 
other family member.
Initially child was investigated at a tertiary hospital and labeled 
as congenital factor 7 deficiency
Investigations  revealed  Hb-6.5gm%,  TLCàP-65%,  L-32%, 
Platelet count- 3,70000 cumm. Bleeding time was normal but 
clotting time was prolonged to 10 minutes 25seconds. Peripher-
al blood smear showed microcytic hypochromic picture. Renal 
function tests were normal. Patients Prothrombin time (PT) was 
21  seconds  (control  -13  seconds),  Activated  Partial  Throm-
boplastin  time  (APTT)  was  52.70  seconds  [(control-  34.89 
secs), (Ref range- 28.65-41.1sec)]. Both these parameters were 
prolonged.
This prompted us to get factor VII, VIII and X levels. Factor 
VIII  assay was  normal  108% (normal  60-150%),  activity  of 
both factor VII and X were less than 1 percent of the normal.  
Factor II and IX activity were in the normal range.
Patient was diagnosed and managed conservatively by transfus-
ing Fresh frozen plasma concentrates.
Discussion:
Factor II,  VII,  IX and X are one of the vitamin K-dependent 
serine proteases. Congenital bleeding disorders of the vitamin 
K-dependent coagulation factors represent only about 15-20% 
of all congenital bleeding disorders.4 Both factor VII and X de-
ficiency  individually  have  an  autosomal  recessive  transmis-
sion.5 The presence of more than one congenital clotting defect 
in a given patient is a rare event but not  an exceptional one.  
Combined defects of factor X (FX) are very rare because con-
genital isolated FX deficiency is by itself very rare. This occurs 
because of abnormalities in chromosome 13 involving both FX 
and FVII genes. These genes are known to be very close and 
located on the long arm of chromosome 13,13q34. Isolated FX 
deficiency and,  more  frequently,  combined  FX + FVII  defi-
ciency appear also associated with coagulation-unrelated abnor-
malities  (carotid  body  tumours,  mitral  valve  prolapse,  atrial 
septal  defect,  ventricular  septal  defect,  thrombocytopenia  ab-
sent radius (TAR) syndrome, mental retardation, microcephaly 
and  cleft  palate).6 Diagnosis  of  a  combined  clotting  defect 
could be difficult on the basis of global tests. As both isolated 
FX deficiency and combined FX + FVII deficiency yield a pro-
1
This work is licensed under a
Creative Commons Attribution-
No Derivative Works 2.5 India License
Online Journal of Health and Allied Sciences
Peer Reviewed, Open Access, Free Online Journal
Published Quarterly :  Mangalore, South India : ISSN 0972-5997
Volume 9, Issue 4; Oct-Dec 2010
longation of basal PTT and PT. Only specific assays could al-
low one to reach the correct diagnosis.
In our patient the diagnosis was based initially on prolonged PT 
and depressed levels of Factor VII but abnormal aPTT values 
raised doubt  regarding the  diagnosis  and levels  other  factors 
were subsequently done. 
These deficiencies may be asymptomatic,  only discovered on 
investigations. They may also be revealed by intracranial bleed-
ing and other severe hemorrhages.8
Treatment  consists  of  symptomatic  management.  Transfusion 
of Fresh frozen plasma (FFP) or Prothrombin complex concen-
trate (PCC ) during the episodes of bleeding diathesis. When 
administered at frequent intervals or over a prolonged period, 
PCCs  may  produce  hypercoagulable  complications,  such  as 
DIC, venous thromboembolism, stroke or myocardial infarction 
particularly in  patients  with  liver  dysfunction.9 There are  re-
ports on the use of rFVIIa for congenital factor VII deficiency 
in  a dose  of20μg/kg  with FFP- two hourly till  hemostasis  is 
achieved.10
This case highlights the importance of keeping in mind the pos-
sibility of combined congenital clotting factor deficiency while 
dealing with a patient of hemophilias. 
References:
1. Peyvandi  F,  Mannucci  PM. Rare  coagulation  dis-
orders. Thromb Haemost 1999;82(4):1207-1214.
2. Uprichard J, Perry DJ. Factor X deficiency.  Blood 
Rev 2002;16(2):97-110.
3. Roberts  HR,  Escobar  MA.  Inherited  disorders  of 
prothrombin  conversion,  In:  Colman  RW,  Marder 
VJ,  Clowes  AW,  Geroge  JN,  Goldhaber  SZ,  eds. 
Hemostasis  and thrombosis  – Basic principles and 
clinical practice. 5th edition.  Philadelphia:  Lippin-
cott Williams & Wilkins, 2006; 923-37.
4. Girolami  A,  Scandellari  R,  Scapin  M,  Vettore  S. 
Congenital  bleeding disorder of the vitamin  K-de-
pendent clotting factors. Vitram Horm 2008;78:281-
374.    
5. Mannucci PM, Duga S, Peyvandi F. Recessively in-
herited coagulation disorders. Blood 2004;104:1243-
1252.
6. Girolami  A,  Ruzzon  E,  Tezza  F,  Scandellari  R, 
Scapin  M,  Scarparo  P Congenital  FX  deficiency 
combined with other clotting defects or with other 
abnormalities: a critical evaluation of the literature. 
Haemophilia 2008;14(2):323-328.
7. Boxus  G,  Slacmeudler  M,  Ninane  J.  Combined 
hereditary deficiency in factors VII and X revealed 
by  a  prolonged  partial  thromboplastin  time.  Arch 
Pediatr 1997;4(1):44-47.
8. Gupta PK, Kumar H, Kumar S. Hereditary Factor X 
(Stuart-Power  Factor)  Deficiency.  MJAFI 
2008;64:286-287.
9. Kinra  P,  Kumar  H.  Recombinant  Factor  VIIA. 
MJAFI 2009;65:59-61
10. Franchini M. Recombinant  Factor VIIa: A Review 
on its Clincal use. International Journal of Hemato-
logy. 2006;83(2):126-138.
2


Combined hereditary deficiency in factors VII and X revealed by a prolonged partial thromboplastin time. Arch Pediatr

Congenital bleeding disorder of the vitamin K-dependent clotting factors. Vitram Horm 2008;78:281-

Factor X deficiency.

Hereditary Factor X (Stuart-Power Factor) Deficiency.

Inherited disorders of prothrombin conversion, In:

Rare coagulation disorders. Thromb Haemost

Recessively inherited coagulation disorders.

Recombinant Factor VIIa: A Review on its Clincal use.

Recombinant Factor VIIA.

Scarparo P Congenital FX deficiency combined with other clotting defects or with other abnormalities: a critical evaluation of the literature.

Combined Factor VII and X Deficiency

CogPrints Cognitive Sciences Eprint Archive

Combined Factor VII and X Deficiency

Abstract

Similar works

Full text

Available Versions

Cognitive Sciences ePrint Archive

CogPrints Cognitive Sciences Eprint Archive