A
case of
congenital factor X deficiency in Côte d’Ivoire, West Africa
N’dogomo Méité1,
Adia Eusebe Adjambri2
1Clinical
Haematology department, Yopougon University Hospital, Abidjan,
Côte d’Ivoire
2Haematology
Unit, Central Laboratory,
Yopougon University Hospital, Abidjan, Côte d’Ivoire
Corresponding
author: Dr
N’dogomo Méité, Clinical Haematology
Department, Yopougon University Hospital, Abidjan, Côte
d’Ivoire, P.O. Box 539,
Abidjan 22, Côte d’Ivoire. Tel: +225 07918225, Fax: 225
23537560. Email:
n_meite@yahoo.fr
Afr J Haematol Oncol 2015;5:19-20
SUMMARY
Congenital
factor X deficiency is a bleeding disorder
never reported in sub-Saharan Africa. It is seen most often in
communities
where consanguineous marriages are accepted. The clinical picture is
mostly due
to hematoma and mucosal bleeding well controlled by derivatives of
progesterone. In our context, the management of bleeding is done with
fresh
frozen plasma, available in most African countries.
Keywords:
factor X deficiency, Africa, Cote d'Ivoire, Bleeding, Fresh Frozen
Plasma.
INTRODUCTION
Congenital
factor X deficiency is an inherited
bleeding disorder reported for the first time in mid-1950 in subjects
with a
hemorrhagic syndrome resembling factor VII deficiency. 1
Factor X or
Stuart-Prower factor (names of the first two patients in whom the
disease was
identified) 1 is a vitamin-K-dependent factor whose
constitutional
deficiency is rare. 2 It is a condition insufficiently
reported in
Sub-Saharan Africa. We report a case from the clinical hematology
department of
Yopougon University Hospital (Abidjan, Côte d’Ivoire).
CLINICAL
CASE
A
seven year-old girl of Malinke ethnic group was seen
at the haematology clinic February 13, 2015 for persistent gingival
bleeding
after minimal dental trauma. She had a history of repeated gingival
bleeding after
mild traumatic bruising which usually regressed after whole blood
transfusions.
The
father and mother are cousins. The father
frequently had bruises and mucosal bleeding until the age of 10. Two of
the
older brothers of the patient died after heavy bleeding.
Physical
examination revealed pallor of the
conjunctivae, with no features of symptomatic anaemia. A small gingival
bleeding wound was noted.
Full
blood counts showed anaemia with hemoglobin level
of 6.9 g/dl. Bleeding time, thrombin time and fibrinogen level were
normal.
Prothrombin time was 10%. The activated partial thromboplastin time was
extended. These tests were corrected when normal control plasma was
added to
our patient’s plasma (mixing study). The immunoassays of factors
II and V were
normal unlike that of factor X, which was very low, lower than 1%
(Pasteur laboratory
Cerba, Paris). Assays of factor X from the father and mother
respectively
showed 2% and 4%. The samples were collected in the tube containing
trisodium
citrate. The samples were centrifuged at 3000 rpm/min for 15 min at a
constant
temperature maintained between 18 and 22 ° C. Plasmas obtained were
decanted
and frozen immediately, then transported to France in a suitable device
containing dry ice provided by the laboratory Cerba Pasteur in Paris.
The
assays of the activity of the factors were performed by chronometer by
this
laboratory.
Therapeutically,
our patient received two units of fresh
frozen plasma, an antibiotic and iron treatment (iron: 10 mg/kg/day).
The bleeding
stopped.
DISCUSSION
Congenital
factor X deficiency is a very rare bleeding
disorder affecting approximately one person per two million. 2
As far as we know, only 50 cases
have been described in the literature. 3 In Ivory Coast,
the disease
exists but has never been reported before.
Factor
X is a vitamin-k dependent factor whose
synthesis is controlled by a gene on chromosome 13. The disease is
transmitted in
a recessive mode and is prevalent in communities where consanguineous
marriages
are practiced, 3 as shown in our case. 4 The
age of first
symptoms is between 0 and 4 years. 2 This is most often by
way of spontaneous
mucosal bleeding. Haemarthrosis is rare and when it exists, it is often
secondary to trauma. 5 In 1960, Brody and Stuart reported
the case
of a 27 year-old woman who often had epistaxis, gingival bleeding or
haematuria.
In the third trimester of her first pregnancy, all symptoms had
disappeared and
the prothrombin time that was extended before pregnancy (170 seconds)
was significantly
reduced (22 seconds) until delivery. They then suggested a correlation
between
hormones and certain clotting factors. 2 The same woman was
treated
four years later without any pregnancy by Haber with a progesterone
derivative
(norethynodrel 10mg/day) without the occurrence of any bleeding event.
This
derivative of progesterone had had the same effects on the occurrence
of
bleeding as well as on the pregnancy. 5 It is also known
that hypercoagulability
during pregnancy is due to an increase in fibrinogen and Factors II,
VII, IX,
and X. 6-8
Factor
X is present in fresh frozen plasma and
prothrombin complex (proconvertin, Proacelerin, Stuart factor,
antihaemophilic
factor B). 9-11 In
our context, fresh
frozen plasma is available. In addition, the use of anti fibrinolytic
substances
is recommended especially during gingival bleeding or during tooth
extraction
because saliva naturally contains fibrinolytic enzymes. 1
CONCLUSION
These
observations show that congenital factor X
deficiency, although uncommon, exists in Africa and especially in
communities
that accept consanguinity. Its management is possible with the
therapeutic
methods available.
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