Factor v deficiency is rare first described in a Norwegian patient in 1943, Identified by Dr. Paul Owren . Fewer than 200 cases of congenital factor V deficiency have been reported worldwide since 1943. inheritance of factor V deficiency is autosomal recessive. usually only needed for severe bleeds or before surgery. there is no concentrate containing only factor V.  fresh plasma or (FFP) infusions are used to correct the deficiency temporarily and should be given daily during a bleeding episode.

1. Factor V Deficiency
(Owren’s disease)
Dr. Leen Doya
Department of pediatric
Tishreen university

2. Introduction
• Hemostasis is the process of forming clots in the
walls damaged blood vessels and preventing blood
loss while maintaining blood in a fluid state within
the vascular system .

6. Background
 Factor V, or proaccelerin, is an essential component
in the blood coagulation cascade.
 Is a protein made in liver that helps convert
prothrombin into thrombin.
 No enough factor V or it doesn’t work properly,
blood may not clot effectively enough to stop from
bleeding.
 Not to be confused with Factor V Leiden, which is a
type of Thrombophilia.
.

7. History
 first described in a Norwegian patient in
1943.
 Identified by Dr. Paul Owren as ( severe
bleeding tendency due to the deficiency
of a previously unknown coagulation
factor), so it is also called as Owren’s
disease, parahemophilia .

8. Epidemiology
 Fewer than 200 cases of congenital factor V
deficiency have been reported worldwide since
1943.
 rare, occurring in approximately 1 per million
population.
 M=F.

9. Epidemiology
 affects persons of all ages(age at presentation
indirectly varies with the severity of disease).
 No apparent racial predilection.
 This condition is more common in countries such as
Iran and southern India, where it occurs up to ten
times more frequently than in western countries.

10. subtypes
I. Genetic (Inherited ):
 the most common type , is caused by mutation(s)
in the F5 gene
 inheritance of factor V deficiency is autosomal
recessive (observed in families with factor V
deficiency).
 Heterozygotes have lowered levels of factor V but
probably never bleed abnormally .

11. subtypes
II. Acquired :
 rare clinical condition in which the development of
antibodies to factor V (factor V inhibitors) leads to
hemorrhagic complications of varying severity.
 addition of normal plasma cannot correct the
prolonged PT and (aPTT).
 can occur after surgery, childbirth, use of bovine
thrombin or medications , and in patients with
autoimmune diseases (SLE) , certain neoplasms,

12. Factor V Deficiency
classified
I. Type 1 ( quantitative Factor V Deficiency):
the levels of factor V are low.
II. Type 2 (qualitative Factor V Deficiency):
the levels are normal or near-normal, but
the activity of factor V is impaired.

13. Severity
 There are different levels of severity of factor V
deficiency based on how little or how much factor V
is available to the body.
 normal : 70-120%
 mild: 5-70%
 moderate: 1-5%
 severe : <1%

14. Pathophysiology
 Factor V circulates in an inactive form.
 During coagulation, factor V is converted to the active cofactor, factor Va ,
via limited proteolysis by the serine protease a-thrombin.
 Factor Va and activated factor Xa form the prothrombinase complex.

15. Clinical manifestations
 Bleeding into the skin.
 Excessive bruising with minor
injuries.
 Nose bleeds.
 Bleeding gums.
 prolonged or excessive loss of
blood with surgery or trauma.
 Bleeding in urinary tract.
 Hemarthrosis and Bleeding
during delivery and postpartum .

16. Clinical manifestations
in severe cases:
 Bleeding in the gastrointestinal tract:
– Abdominal pain.
– Black, tarry stools.
– Weakness.
– Lightheadedness.
 Bleeding in lungs:
– Difficulty breathing.
– Cough, which may contain blood.

17. Bleeding in the joints :
– Swelling
– Stiffness and pain
– Tingling sensation
– The joint may feel warm to touch
• Bleeding into the brain:
– Headaches
– Seizures
– Numbness
– Nausea and vomiting
– Vision changes
– Confusion
Clinical manifestations

18. Acquired Factor V Deficiency, the signs and symptoms
may include those of the pre-existing condition that
caused Factor V Deficiency.

19. Physical
 The most common:
 Ecchymoses.
 bleeding from mucosal surfaces.
 pallor secondary to blood loss.
 Petechiae are uncommon because platelet numbers
and function are not affected.

20. Laboratory Studies
 Factor V assay (decreased activity) .
 Bleeding time (prolonged in severe case).
 aPTT (Prolonged).
 PT (Prolonged).
 Thrombin time (Normal).
 Stypven time (Russell viper venom time [RVVT]):
(Prolonged).
 Correction of PT or partial thromboplastin time
(PTT) with the mixing of equal amounts of normal
and patient plasma.

21. Imaging Studies
 Early and aggressive imaging studies (for
hemorrhage, after coagulation therapy is initiated) .
 Head and Body CT scan with or without intravenous
contrast (Assess spontaneous or traumatic
hemorrhage).
 Head and spinal column MRI .
 Radiograph for joint assessment.
 angiography and nucleotide bleeding scan as
clinically indicated.

22. Treatment
 usually only needed for severe bleeds or before surgery.
 there is no concentrate containing only factor V.
 fresh plasma or (FFP) infusions are used to correct the
deficiency temporarily and should be given daily during
a bleeding episode.
 loading dose of FFP is 15-20 mL/kg and then 3-6 mL/kg
daily (depend on monitoring the factor V level ).
 The half-life ranges from 24-36 hours
 aim being a factor V level of 25%.
 Complication : Fluid overload and viral transmission.

23. Treatment
 platelet transfusions are emerging as an alternative
to FFP.
 Factor V stored within platelet alpha granules has
greater procoagulant potential and is released locally
at sites of vascular injury.

24. Preoperative and postoperative
 The safe level of factor V for adequate surgical
hemostasis is 25% of the activity of factor V in
normal control plasma.
 Postoperatively, FFP should be administered for 3-10
days, with careful observation of wound bleeding.
 Tooth extraction in a patient with factor V hereditary
deficiency is safely performed with both
supplementation of FFP and application of local
hemostasis.

25. Treatment
 Corticosteroids have been used successfully in
acquired factor V deficiency.
 Further Outpatient Care:
 should monitor individuals with severe factor V
deficiency.

26. Prevention
 no prevention exists (inherited disorder).
 Immunize patients who may require plasma-derived
coagulation factor concentrates with hepatitis B vaccines.
 no use (NSAIDs) as this greatly increases the risk of
bleeding.
 Caution is needed for injections should be given SC rather
than IM ( reduce the risk of hematoma developing).
 Some activities may need to be avoided, such as contact
sports that carry a high risk of head injury .
 It is always advisable to wear a medical alert identity
necklace or bracelet .

27. Complications
 Dangerous hemorrhaging can occur if bleeding isn't
controlled quickly (intracranial hemorrhage,
postoperative bleeding).
 Increased incidence of brain stroke .
 Clot formation in the lung.
 Deep vein thrombosis.
 FROM TREATMENT :
 If platelets are used as a source of factor V , antiplatelet
antibodies can be induced.
 Generation of anti-factor V alloantibodies as a
consequence of Factor V Deficiency treatment.

28. Combined deficiency of
factors V and VIII

29.  Factor V deficiency may also occur at the same time as
factor VIII deficiency, producing more severe bleeding
problems.
 Rare bleeding disorder described in 1954 by Oeri et al.
 Several families ( about 100 have been reported).
Background

30. Prevalence
 estimated between 1/100,000 and 1/1,000,000.
 more prevalent in the Mediterranean area and in
areas where consanguineous marriages are common.

31. Etiology
 Inheritance is autosomal recessive.
 Associated with mutations of LMAN-1 (ERGIC-53)
approximately 70% of cases or MCFD2 approximately
30% of cases , both of which regulate intracellular
trafficking of V and VIII.

32. Clinical description
 can manifest at any age.
 usually mild symptoms
 Epistaxis, easy bruising, post-surgical
or post partum bleeding and
menorrhagia are the most common
symptoms.
 Hemarthrosis and muscular
hematomas may occur.

33. Diagnostic methods
 Prolonged PT and aPTT .
 Levels of factor V and factor VIII range from as low as
1% to as high as 46%.
 generally fall between 5% and 30%.

34. Management
and Prognosis
 Management:
 aims at controlling the bleeding
 includes treatments with FFP and desmopressin
administration.
 Prognosis:
 The prognosis is favorable for moderate forms of the
disease.
 Management of patients with more severe forms
should be carried out at a specialized center.

35. THE END