A Rare Case of Factor X

Deficiency Associated with

Plasma Cell
Disorder

Flordeluna Mesina, MD, Priscilla Caguioa, MD, FPCP, FPSMO, FPSHBT

Sources : www.pcp.org.ph
Phil. Journal of Internal Medicine (Vol. 49 No.4) Ross Mark Perandos
INTRODUCTION

Coagulopathy usually presents as soft tissue bleeding, seldom are they seen
as spontaneous gastrointestinal or intraperitoneal bleeding.
The study present a case of a Filipino with acquired factor X deficiency
secondary to a plasma cell disorder presenting as upper gastrointestinal
bleeding.
 Case Report

A 52 year-old Filipino, male, was previously well until February 2009 when he
presented with atraumatic acute surgical abdomen
He underwent emergency exploratory laparotomy with evacuation of hematoma and
massive hemoperitoneum
Due to difficulty of surgical hemostasis, bleeding parameters were requested. It
showed prolonged prothrombin time (PT) and activated partial thromboplastin time
(APTT), platelet count was normal.
Fresh frozen plasma was transfused and vitamin K was administered which controlled
the bleeding.
There was no recurrence of bleeding, but bleeding parameters were persistently
abnormal, he was discharged with vitamin K tablet. No work-up was done.
He was asymptomatic for three months until November 2009 when he had an episode
of massive hematochezia and abdominal pain, hence admission at the institution.
Case Report

There was no personal or family history of bleeding diathesis. No intake of

warfarin.
A systematic approach to acquired coagulopathy where laboratory work-up
showed anemia, normal clotting and bleeding time, normal platelets,
persistently prolonged PT & APTT which were corrected after mixing studies
indicating a factor deficiency.
Skeletal survey
showed multiple small
lytic lesions on the
skull consistent with
plasma cell dyscrasia.
The serum protein
electrophoresis showed a
faint band at the late gamma
region with associated
hypogammaglobulinemia
which mayindicate a plasma
cell disorder.
A urine protein
electrophoresis and
immunofixation was
done showing
monoclonal free
lambda light chains.
Case Report

This patient satisfied the three minor criteria for multiple myeloma namely
presence of lytic bone lesions, monoclonal lambda light chains on urine
electrophoresis and immunofixation and plasma cells of 14%.
The multisystem involvement led us to consider primary systemic amyloidosis
and so a fat pad biopsy was sent for congo red stain which turned out to be
negative for amyloid component and negative for malignant cells.
Case Report

The plan for this patient was to establish the presence of amyloidosis by
biopsy of involved critical organs because it has a higher sensitivity and
specificity at 90-100%.1 It is difficult in this case because it carries an 8% risk
of suffering from procedure related hemorrhage and the patient did not give
consent.
Treatment plan is oral chemotherapy with melphalan and prednisone for the
multiple myeloma cannot totally rule out primary systemic amyloidosis.
DISCUSSION

Abnormal bleeding following tissue injury or spontaneously, results from a

localized pathologic process or a disorder of the hemostatic process.
Factor X is a vitamin K dependent, liver produced serine protease. It can be
inherited or acquired. Inherited factor X deficiency is an autosomal recessive
disorder with an estimated incidence of 1: 1 million in the general population.
Plasma cell disorder is due to the malignant proliferation of a monoclonal
population of plasma cells that may or may not be secreting detectable levels
of a monoclonal immunoglobulin or paraprotein
DISCUSSION

The mechanism of factor X deficiency in amyloidosis was shown by Mahdi et

al. indicating that amyloid- protein precursor (APP) is a direct inhibitor of
Factor Xa both as an isolated protein and in the prothrombinase complex.
Another mechanism seen by Furie et al. showed that majority of infused
radiolabelled factor X was cleared within seconds from the plasma. This can
be due to the binding of factor X to amyloid fibrils and rapid deposition in the
extracellular space.
DISCUSSION

Multiple myeloma was confirmed by the presence of three minor criteria but
due to multiorgan involvement and the fact that 10-15% of multiple
myelomas are associated with primary systemic AL-amyloidosis, it was also
considered in this patient.
Tissue diagnosis of amyloidosis should be confirmed by biopsy of the
abdominal fat which turned out to be negative in our patient or biopsy of
critical organs which is high risk for hemorrhagic complications.
 The mainstay of treatment for acute bleeding due to factor X deficiency
consist of fresh frozen plasma (FFP) with a loading dose of 15-20 ml/ kg
followed by 3-6 ml/kg twice daily to keep factor X levels above 10-20%.
Other alternatives are pro-thrombin complex concentrate (PCC) and factor X
concentrates but are unavailable in many developing countries.
CONCLUSION

The complexity of the hemostatic process should be meticulously reviewed in

any patient with bleeding diathesis because Factor X deficiency, a rare disorder,
can cause prolongation of both PT and APTT. It may present as recurrent
gastrointestinal bleeding on top of any structural abnormality such as gastric
ulcer. Treatment is factor replacement during acute bleeding and address the
primary cause of the disease.