CARDIOVASCULAR JOURNAL OF AFRICA • Vol 24, No 9/10, October/November 2013
e8
AFRICA
Case Report
Antiphospholipid syndrome in a young Nigerian girl
presenting with gangrenous toes
RAPHAEL CHINEDU ANAKWUE, CHIOLI CHIJIOKE, ANTHONY MBAH, AUGUSTINE ONUH,
CHRISTIAN OKWARA
Abstract
We report on a 21-year-old Nigerian girl with toe gangrene,
which is one of the most unlikely forms of presentation of
antiphospholipid syndrome among Africans. The essence of
this case report is to raise awareness that, although antiphos-
pholipid syndrome typically presents in Africans in associa-
tion with a pregnancy-related event or a neuropathology, it
should be considered as a differential diagnosis in all African
patients with unexplained vasculitis. A high index of suspi-
cion and early treatment will prevent toe amputations and
reduce mortality rates.
Keywords:
antiphospholipid syndrome, gangrenous toes, young
Nigerian girl
Submitted 28/4/13, accepted 26/9/13
Cardiovasc J Afr
2013;
24
: e8–e11
DOI: 10.5830/CVJA-2013-073
Antiphospholipid syndrome is an auto-immune disorder in
which the body mounts antibodies against proteins involved in
the coagulation cascade, leading to thrombosis in the arteries
and veins, and complications in pregnancy, such as abortions
and stillbirths.
The pathogenic antibodies assessed in APLS are the lupus
anticoagulant (LA), anticardiolipin, and anti-
β
2
-glycoprotein I.
Lupus anticoagulant antibodies are identified by coagulation
assays, in which they prolong clotting times. By contrast,
anticardiolipin antibodies and anti-
β
2
-glycoprotein I antibodies
are detected by immunoassays that measure immunologic
reactivity to a phospholipid or a phospholipid-binding protein
(cardiolipin and
β
2
-glycoprotein I, respectively).
1
There are also
three different antibodies that can be assessed: immunoglobulins
G, M and A.
The pathogenesis of APLS is controversial and there are three
theories that seek to explain the pathogenesis of antiphospholipid
syndrome. The first theory suggests that endothelial cells are
activated following the binding of antiphospholipid antibodies.
This sets off a cascade of reactions that culminates in thrombus
formation. The antiphospholipid antibodies also recognise
β
2
-glycoprotein I bound to resting endothelial cells.
1,2
The second theory proposes that antiphospholipid antibodies
interfere with or modulate the function of phospholipid-
binding proteins involved in the regulation of coagulation.
Antiphospholipid antibodies are also thought to interfere with
the functions of
β
2
-glycoprotein I, prothrombin, protein C,
annexin V and tissue factor.
3-5
The third theory recognises that oxidised low-density
lipoprotein-induced oxidant-mediated injury to the vascular
endothelium sets up a chain of reaction, including recognition of
oxidised phospholipids and or phospholipid-binding proteins by
the anticardiolipin antibody.
6-8
The first and second theories may actually reflect the true
pathogenesis of antiphospholipid syndrome. This is in keeping
with the current findings, which confirm that the anticardiolipin
antibodies detect antibodies to
β
2
-glycoprotein I (
β
2
GPI), and
lupus anticoagulant tests are sensitive to antibodies to
β
2
GPI
(anti-
β
2
GPI) and also antibodies to prothrombin.
9
There are many mechanisms that could explain thrombosis
in APLS.
10
These are: increased expression of tissue factor on
monocytes and endothelial cells, interference in the protein C
anticoagulant pathway, inhibition of fibrinolysis, and inhibition
of annexin V binding to phospholipids. More recently, the
following have been implicated: the binding of anti-
β
2
GPI to
receptors (Toll-like receptors 2 and 4, annexin A2, glycoprotein
1b-alpha, and LRP8 in the LDL receptor family) and to
different cell types (endothelial cells, platelets, monocytes and
trophoblasts). All these lead to triggering of intracellular
signalling and inflammatory responses.
10
The thrombosis that defines APLS may be arterial or venous.
The most frequent site of arterial thrombosis is in the cerebral
vasculature, causing cerebral ischaemia/stroke, and in the heart,
resulting in myocardial ischaemia, as well as in the arteries of
the leg, arm, kidney and mesentery. Venous thrombosis could
lead to deep-vein thrombosis and/or pulmonary thrombosis, and
may also involve the portal, renal, mesenteric, intracranial and
superficial (superficial thrombophlebitis) veins. Microvascular
thrombosis could involve the lungs, brain, kidneys and other
organs, causing multi-organ failure, the so-called catastrophic
antiphospholipid syndrome (CAPLS).
10
Diagnosis of antiphospholipid syndrome is based on the
International Consensus statement of one clinical criterion or
laboratory criterion.
1,11
The clinical criterion includes one or more
College of Medicine, University of Nigeria Enugu Campus,
Enugu, Nigeria
RAPHAEL CHINEDU ANAKWUE, MBBS, MSc, MWACP, FWACP,
CHIOLI CHIJIOKE MBBS, MSc, FWACP, MD
ANTHONY MBAH, MD, FMCP
AUGUSTINE ONUH, MBBS, FWACP
CHRISTIAN OKWARA MBBS, FWACP
