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2238 Part XII: Hemostasis and Thrombosis Chapter 131: The Antiphospholipid Syndrome 2239

CLINICAL FEATURES 6

Table 131–4 summarizes the clinical features of APS. Patients generally
present with thrombotic manifestations, that is, evidence for vasooc-
clusion or end-organ ischemia or infarction, and/or pregnancy losses 4
and complications attributable to placental insufficiency. The usual age
at presentation with thrombosis is approximately 35 to 45 years. Except Events per 100 pt/yrs
for patients with SLE, men and women are equally susceptible to throm-
botic manifestations. No differences have been observed between the 2
arterial and venous distributions of thromboses of primary and second-
ary APS patients. 134

SYSTEMIC VASCULAR THROMBOSIS 0
Patients can present with spontaneous venous and/or arterial throm- Normal Carriers Carriers
bosis or embolism in any site; however, about half of all patients have subjects single positivity triple positivity
deep vein thrombosis of the lower extremities. 135,136 Other sites of Figure 131–5. Average annual rates of first cardiovascular events
venous thromboembolic events include pulmonary embolism, tho- (including venous thromboembolism) among antiphospholipid (aPL)
racic veins (superior vena cava, subclavian vein, or jugular vein), and antibody–negative and aPL antibody-positive populations. Concur-
abdominal or pelvic veins. Approximately one-fourth of patients rent positivity for all three aPL antibody assays—that is, “triple posi-
136
present with arterial thromboses; the remainder present with concur- tivity” for the aCL antibody assay, anti-β GPI antibody assay, and the
2
rent arterial and venous thrombosis. Patients may also present with lupus anticoagulant assay—is a highly significant risk factor for a first
136
thrombotic event. (Modified with permission from Pengo V, Ruffatti A,
stroke, cerebral venous thrombosis, upper-extremity venous thrombo- Legnani C et al: Incidence of a first thromboembolic event in asymptomatic
sis, myocardial infarction, adrenal infarction, acalculous gallbladder carriers of high-risk antiphospholipid antibody profile: A multicenter pro-
135
infarction, aortic thrombosis with renal infarction, and mesenteric spective study. Blood 118(17):4714–4718, 2011.)
120
artery thrombosis. 137,138 Thrombosis may occur spontaneously or in the
presence of some other risk factor such as estrogen replacement therapy, assays—that is, the aCL antibody assay, anti-β GPI antibody assay, and
2
oral contraceptives, 134,139 vascular stasis, surgery, or trauma. Women are the LA assay—appears to be a highly significant risk factor for having
at particularly high risk for venous thrombosis during pregnancy and in an initial thrombotic event (Fig. 131–5). If this finding is confirmed,
144
the postpartum period. Some APS patients with venous thrombosis it could identify a group of patients who might warrant consideration
134
have concurrent genetic thrombophilic conditions such as the factor V for prophylactic treatment. A history of having had a thromboem-
Leiden variant, and it has been postulated that this may increase the bolic event is probably the most significant risk factor for recurrence
risk of thrombosis. 140–143 Concurrent positivity for all three aPL antibody of venous thromboembolism in APS, with a reported frequency that
reached approximately 30 percent in patients followed for 4 years after
145
TABLE 131–4. Clinical Manifestations Associated with APS the first episode. The risk of recurrent thromboembolism correlates
with the titer of antibodies, 145,146 and with the presence of LA. In addi-
• Venous and arterial thromboembolism* tion, it appears that the presence of anti-β GPI domain I antibodies
2
• Pregnancy complications attributable to placental insufficiency, significantly increase the risk of thrombosis, compared to patients who
including spontaneous pregnancy losses as detailed in Table have antibodies that are not domain I dependent and LA that is not
132–3, intrauterine growth restriction, preeclampsia, preterm domain I dependent. 51
labor, and placental abruption*
• Thrombocytopenia SYSTEMIC LUPUS ERYTHEMATOSUS AND
• Thrombotic and embolic stroke* OTHER AUTOIMMUNE CONDITIONS
• Cerebral vein thrombosis* APS patients frequently present with other autoimmune conditions.
• Livedo reticularis, necrotizing skin vasculitis A significant proportion of SLE patients have elevated aPL antibodies,
• Coronary artery disease with estimates ranging between 12 and 30 percent for aCL antibodies
• Valvular heart disease and 15 and 34 percent for LA antibodies. APS has been associated
147
• Kidney disease with the concurrence of other autoimmune conditions including, but
148
149
• Pulmonary hypertension not limited to, rheumatoid arthritis, Sjögren syndrome, myasthe-
150
151
• Acute respiratory distress syndrome nia gravis, Budd-Chiari syndrome in the setting of SLE, Graves
disease, autoimmune hemolytic anemia, progressive systemic sclero-
152
• Atherosclerosis and peripheral artery disease sis, Evans syndrome, Takayasu arteritis, polyarteritis nodosa,
154
156
155
153
• Nonthrombotic retinal disease and immune thrombocytopenia (see section Thrombocytopenia below
• Adrenal failure, hemorrhagic adrenal infarction* and also Chap. 117).
• Budd-Chiari syndrome, mesenteric and portal vein obstructions,
hepatic infarction, esophageal necrosis, gastric and colonic STROKE AND OTHER NEUROLOGIC
ulceration, gallbladder necrosis* CONDITIONS
• Catastrophic antiphospholipid syndrome with thrombotic The most common neurologic manifestations of APS are stroke or tran-
microangiopathy* sient ischemic attacks (TIAs), which were the initial presentation of up
157
*Manifestations that qualify as consensus criteria for diagnosis of to 30 percent of adults with APS in a large European cohort. In the
antiphospholipid syndrome. 18 European Catastrophic Antiphospholipid Antibody Syndrome (CAPS)

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