New York, NY—June 20, 2018
Antiphospholipid syndrome (APS), a systemic autoimmune disease, can be underrecognized, according to a recently published review in the New England Journal of Medicine (2018;378(21):2010-2021). Experts say more patient and physician education is needed for this disease that can cause blood clots and pregnancy complications, and other problems such as low platelet counts, anemia, kidney disease, and heart valve disease; these problems can occur in patients with or without other systemic autoimmune diseases such as lupus.
"We need to increase the recognition of APS among general physicians," said Doruk Erkan, MD, MPH, a rheumatologist at the Barbara Volcker Center for Women and Rheumatic Diseases, Hospital for Special Surgery, in New York City, an APS expert, and a coauthor of the article. "We need physicians to think about the disease in their differential diagnosis, first, and second, make the correct diagnosis as the interpretation of the blood tests can be tricky."
Patients who are positive for antiphospholipid antibodies (aPL) may present with no related symptoms and are usually identified during an evaluation for systemic autoimmune diseases, low platelet counts, recurrent miscarriages, an elevated activated partial-thromboplastin time (a test commonly ordered before surgeries to determine the bleeding risk), or a false-positive screening result of a syphilis test. Symptomatic patients seek medical attention for blood clots pregnancy complications, or other clinical problems as a consequence of aPL. Stroke and transient ischemic attack are the most common arterial events in patients with APS. Patients with venous events most commonly present with lower-extremity deep vein thrombosis (DVT), pulmonary embolism, or both. Antiphospholipid-antibody-related complications of pregnancy generally develop after 10 weeks of gestation, which include miscarriages or intrauterine growth restriction.
The NEJM article was coauthored by David Garcia, MD, Associate Medical Director of Anti-Thrombotic Therapy at the University of Washington School of Medicine, Seattle. "Antiphospholipid antibodies are not only a diagnostic marker for APS, but also a risk factor for blood clots and pregnancy complications, which are commonly multifactorial,” said Dr. Garcia. “For instance, the risk of blood clots is magnified when there are multiple risk factors, such as the combination of birth control pill use and the presence of antiphospholipid antibodies."
"A common complaint heard from patients with APS is that doctors did not diagnose their disease in a timely fashion or their doctors do not understand their disease. A typical example is a young woman with platelet counts that are slightly low and miscarriages; however, aPL tests are not ordered until they present with stroke," said Dr. Erkan. "Another example is a young patient that comes in with DVT with no other blood clot risk factors, and aPL is not considered as part of the diagnostic work-up."
In addition to the underrecognition of APS, overdiagnosis is another concern, as not every positive aPL test is clinically significant," said Dr. Erkan. Although aPL are detected in 10 percent to 15 percent of the general population with blood clots or pregnancy problems, clinicians should consider both the aPL test profile and additional blood clotting risk factors in evaluating aPL-positive patients.
Tests to detect aPLs include the lupus anticoagulant (LA) test, anticardiolipin antibody (aCL) enzyme-linked immunosorbent assay (ELISA), and anti-β2-glycoprotein-I (aβ2GPI ) ELISA. The NEJM article provides guidance for clinicians about the interpretation of these aPL tests, including how to assess the individual aPL tests and aPL profile. For instance, transient low-level aPL-positivity is common during infections, which is not clinically important, whereas persistent moderate-to-high titers of aCL and aβ2GPI correlate better with aPL-related clinical events.
"We hope that our APS review article published in a high-impact journal will help increase the recognition of APS worldwide," said Dr. Erkan, who is also the co-chair of the Antiphospholipid Syndrome Alliance for Clinical Trials and International Networking (APS ACTION). APS Action is a collaborative effort to prevent, treat, and cure aPL-associated clinical manifestations through high-quality, multicenter, and multidisciplinary clinical research.
Hospital for Special Surgery in the United States is one of the major referral centers for APS, and also the lead coordinating center for APS ACTION (www.apsaction.org).
The article can be found at https://www.nejm.org/doi/full/10.1056/NEJMra1705454.
About HSS | Hospital for Special Surgery
HSS is the world’s leading academic medical center focused on musculoskeletal health. At its core is Hospital for Special Surgery, nationally ranked No. 1 in orthopedics (for the ninth consecutive year) and No. 3 in rheumatology by U.S.News & World Report (2018-2019). Founded in 1863, the Hospital has one of the lowest infection rates in the country and was the first in New York State to receive Magnet Recognition for Excellence in Nursing Service from the American Nurses Credentialing Center four consecutive times. The global standard total knee replacement was developed at HSS in 1969. An affiliate of Weill Cornell Medical College, HSS has a main campus in New York City and facilities in New Jersey, Connecticut and in the Long Island and Westchester County regions of New York State. In 2017 HSS provided care to 135,000 patients and performed more than 32,000 surgical procedures. People from all 50 U.S. states and 80 countries travelled to receive care at HSS. In addition to patient care, HSS leads the field in research, innovation and education. The HSS Research Institute comprises 20 laboratories and 300 staff members focused on leading the advancement of musculoskeletal health through prevention of degeneration, tissue repair and tissue regeneration. The HSS Global Innovation Institute was formed in 2016 to realize the potential of new drugs, therapeutics and devices. The culture of innovation is accelerating at HSS as 130 new idea submissions were made to the Global Innovation Institute in 2017 (almost 3x the submissions in 2015). The HSS Education Institute is the world’s leading provider of education on the topic on musculoskeletal health, with its online learning platform offering more than 600 courses to more than 21,000 medical professional members worldwide. Through HSS Global Ventures, the institution is collaborating with medical centers and other organizations to advance the quality and value of musculoskeletal care and to make world-class HSS care more widely accessible nationally and internationally.