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OJHAS Vol. 9, Issue 4:
Oct-Dec, 2010) |
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| Combined Factor VII and
X Deficiency |
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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. |
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Address For Correspondence |
Associate Professor,
Dept. of Pediatrics,
Sri Guru Ram Das Institute
of Medical Sciences and Research,
Vallah, Amritsar.
E-mail:
gsnarang321@gmail.com |
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Narang GS, Arora S, Pahwa JS. Combined Factor VII and X Deficiency. Online J Health Allied Scs.
2010;9(4):17 |
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Submitted: Oct 25,
2010; Accepted Nov 2, 2010; Published: Jan 20, 2011 |
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| Abstract: |
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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
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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.
We present the case of a 7
years old male child, who came to us with epistaxis since 2 days. Bleeding
started without any antecedent 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 purpuras 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
resolved 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%,
TLCąP-65%,
L-32%, Platelet count- 3,70000 cumm. Bleeding time was normal but clotting
time was prolonged to 10 minutes 25seconds. Peripheral blood smear showed
microcytic hypochromic picture. Renal function tests were normal. Patients
Prothrombin time (PT) was 21 seconds (control -13 seconds), Activated
Partial Thromboplastin 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 transfusing Fresh frozen plasma concentrates.
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 deficiency individually
have an autosomal recessive transmission.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 congenital 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 deficiency appear
also associated with coagulation-unrelated abnormalities (carotid body
tumours, mitral valve prolapse, atrial septal defect, ventricular septal
defect, thrombocytopenia absent 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 prolongation of basal PTT and PT. Only specific assays could allow
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
bleeding and other severe hemorrhages.8
Treatment consists of symptomatic
management. Transfusion of Fresh frozen plasma (FFP) or Prothrombin
complex concentrate (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 reports 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 possibility of combined congenital clotting factor
deficiency while dealing with a patient of hemophilias.
- Peyvandi F, Mannucci
PM. Rare coagulation disorders. Thromb Haemost 1999;82(4):1207-1214.
- Uprichard J, Perry
DJ. Factor X deficiency. Blood Rev 2002;16(2):97-110.
- 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: Lippincott Williams & Wilkins, 2006; 923-37.
- Girolami
A, Scandellari R, Scapin M, Vettore S. Congenital bleeding disorder
of the vitamin K-dependent clotting factors. Vitram Horm 2008;78:281-374.
- Mannucci
PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders.
Blood 2004;104:1243-1252.
- 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.
- 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.
- Gupta
PK, Kumar H, Kumar S. Hereditary Factor X (Stuart-Power Factor) Deficiency.
MJAFI 2008;64:286-287.
-
Kinra P, Kumar H. Recombinant Factor VIIA. MJAFI 2009;65:59-61
- Franchini M. Recombinant Factor VIIa: A Review on its Clincal use. International Journal of Hematology. 2006;83(2):126-138.
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