Zespół antyfosfolipidowy
Diagnostyka i diagnoza

Zespół antyfosfolipidowy (APS) to autoimmunologiczne schorzenie charakteryzujące się obecnością przeciwciał antyfosfolipidowych (aPL) oraz klinicznymi objawami zakrzepicy żylnej, tętniczej lub małych naczyń, a także powikłaniami położniczymi. Diagnostyka opiera się na kryteriach klinicznych (zakrzepica, powikłania położnicze) oraz laboratoryjnych, które wymagają wykrycia przynajmniej jednego z przeciwciał: antykoagulantu toczniowego (LA), przeciwciał antykardiolipinowych (aCL IgG/IgM >40 GPL/MPL) lub przeciwciał przeciwko β2-glikoproteinie I (IgG/IgM), utrzymujących się w surowicy w dwóch oznaczeniach w odstępie minimum 12 tygodni. Diagnostyka LA obejmuje testy przesiewowe (aPTT, dRVVT), testy mieszania i potwierdzające, z uwzględnieniem wpływu leczenia przeciwzakrzepowego na wyniki. Profil przeciwciał aPL (potrójnie, podwójnie lub pojedynczo dodatni) determinuje ryzyko kliniczne, a system GAPSS pozwala na ocenę prawdopodobieństwa zakrzepicy, gdzie wynik 16 oznacza 6-krotnie wyższe ryzyko.

Diagnostyka zespołu antyfosfolipidowego

Zespół antyfosfolipidowy (APS, ang. Antiphospholipid Syndrome) jest autoimmunologicznym zaburzeniem charakteryzującym się występowaniem przeciwciał antyfosfolipidowych (aPL) oraz objawami klinicznymi, takimi jak zakrzepica żylna, tętnicza lub małych naczyń, a także powikłaniami położniczymi. Właściwa diagnostyka APS ma kluczowe znaczenie, ponieważ zakrzepy mogą prowadzić do poważnych konsekwencji zdrowotnych.12

Kryteria diagnostyczne APS

Diagnoza zespołu antyfosfolipidowego opiera się na kombinacji kryteriów klinicznych i laboratoryjnych. Należy podkreślić, że nie istnieją formalne kryteria diagnostyczne dla APS, jednak w praktyce klinicznej wykorzystywane są zrewidowane kryteria klasyfikacyjne Sapporo (Sydney) z 2006 roku, a także nowe kryteria klasyfikacyjne ACR/EULAR (American College of Rheumatology/European Alliance of Associations for Rheumatology) z 2023 roku.34

Do postawienia diagnozy APS wymagane jest spełnienie co najmniej jednego kryterium klinicznego oraz jednego kryterium laboratoryjnego.5 Ważne jest, aby pamiętać, że rozpoznanie APS w codziennej praktyce klinicznej jest mniej restrykcyjne niż kryteria klasyfikacyjne ACR/EULAR, których ścisłe stosowanie w rutynowej praktyce do diagnozowania indywidualnych pacjentów powinno być unikane.5

Kryteria kliniczne APS

Kryteria kliniczne obejmują:67

  • Zakrzepica naczyniowa – jeden lub więcej epizodów zakrzepicy tętniczej, żylnej lub małych naczyń w dowolnej tkance lub narządzie
  • Powikłania położnicze:
    • Jedno lub więcej niewyjaśnionych poronień późnych (po 10. tygodniu ciąży)
    • Jeden lub więcej przedwczesnych porodów przed 34. tygodniem ciąży z powodu ciężkiego stanu przedrzucawkowego lub niewydolności łożyska
    • Trzy lub więcej niewyjaśnionych następujących po sobie poronień wczesnych (przed 10. tygodniem ciąży)

18

Kryteria laboratoryjne APS

Diagnoza laboratoryjna APS wymaga wykrycia przynajmniej jednego z przeciwciał antyfosfolipidowych, utrzymujących się w surowicy w co najmniej dwóch oznaczeniach wykonanych w odstępie minimum 12 tygodni.91 Jest to istotne, ponieważ przeciwciała aPL mogą występować przejściowo, na przykład w przebiegu niektórych infekcji.10

Do standardowych badań laboratoryjnych w diagnostyce APS należą:611

12

Według aktualnych wytycznych, wszystkie te trzy testy powinny być wykonane jednocześnie, aby zwiększyć prawdopodobieństwo wykrycia APS, ponieważ każdy z nich może być dodatni niezależnie od pozostałych.1113

Antykoagulant toczniowy (LA)

Badanie antykoagulantu toczniowego jest testem czynnościowym, bazującym na ocenie wpływu przeciwciał antyfosfolipidowych na procesy krzepnięcia zależne od fosfolipidów.14 Przeciwciała obecne w próbce osocza pacjenta konkurują z czynnikami krzepnięcia o fosfolipidy poprzez wiązanie z kofaktorami związanymi z fosfolipidami, takimi jak β2-glikoproteina I, co prowadzi do wydłużenia czasu krzepnięcia.14

Diagnostyka LA obejmuje:15

Ważne jest, aby pamiętać, że leczenie przeciwzakrzepowe komplikuje badanie i interpretację LA poprzez wydłużenie aPTT i dRVVT. Dlatego informacja o statusie antykoagulacji pacjenta jest niezbędna do właściwej interpretacji wyników.1516

Przeciwciała antykardiolipinowe (aCL)

Przeciwciała antykardiolipinowe wykrywane są za pomocą testu immunoenzymatycznego ELISA. Kryteria laboratoryjne dla APS obejmują średnie lub wysokie miana przeciwciał aCL IgG lub IgM (>40 GPL lub MPL).13 Badanie to jest wykonywane rutynowo, ale nie jest doskonałe, dlatego konieczne jest równoczesne wykonanie pozostałych testów.12

Przeciwciała anty-β2GPI

Przeciwciała przeciwko β2-glikoproteinie I są oznaczane również metodą ELISA. Niektóre laboratoria dodają to badanie dla kompletności i większej precyzji diagnostycznej, szczególnie u pacjentów z wyraźnymi objawami APS, ale konsekwentnie negatywnymi wynikami testów aCL i LA.12

Stratyfikacja ryzyka w APS

Profil przeciwciał antyfosfolipidowych ma istotne znaczenie dla określenia ryzyka klinicznego u pacjentów z APS.14 Wszystkie kryterialne przeciwciała aPL powinny być raportowane oddzielnie, ale z ogólną interpretacją, ponieważ to profil przeciwciał determinuje ryzyko zdarzeń klinicznych w APS.15

Stratyfikacja ryzyka obejmuje:1714

  • Profil potrójnie dodatni (obecność wszystkich trzech rodzajów przeciwciał) – najwyższe ryzyko zakrzepicy i powikłań położniczych
  • Profil podwójnie dodatni – pośrednie ryzyko
  • Profil pojedynczo dodatni – niższe ryzyko

Ponadto, większe ryzyko obserwuje się dla przeciwciał klasy IgG aCL/anty-β2GPI w porównaniu do IgM, a wyższe miana IgG są bardziej związane ze zdarzeniami klinicznymi w porównaniu do niższych mian dodatnich.14 Pozytywny wynik testu antykoagulantu toczniowego jest najsilniejszym predyktorem niepożądanych zdarzeń związanych z ciążą i zakrzepicą.418

Do stratyfikacji ryzyka może być wykorzystywany system punktowy Global Antiphospholipid Syndrome Score (GAPSS), który mierzy prawdopodobieństwo zakrzepicy u pacjentów na podstawie ich miana aPL i innych czynników ryzyka sercowo-naczyniowego. Im wyższy wynik, tym większe ryzyko – pacjenci z wynikiem 16 mają 6-krotnie większe prawdopodobieństwo wystąpienia zakrzepicy.19

Seronegatywny APS

U niektórych pacjentów zespół antyfosfolipidowy może występować mimo negatywnych wyników standardowych testów aPL (tzw. seronegatywny APS, SNAPS). Diagnoza opiera się wówczas na objawach klinicznych i wykluczeniu innych chorób, które mogłyby wyjaśniać te objawy.1920

W przypadku podejrzenia SNAPS warto rozważyć wykonanie testów na obecność innych, niestandardowych przeciwciał antyfosfolipidowych:2122

  • Przeciwciała przeciwko fosfatydyloserynie (aPS)
  • Przeciwciała przeciwko protrombinie (aPT)
  • Przeciwciała przeciwko kompleksowi fosfatydyloseryna/protrombina (aPS/PT)
  • Przeciwciała przeciwko aneksynie A5 (aA5)
  • Przeciwciała przeciwko domenie I β2-glikoproteiny I

Chociaż te niestandardowe markery mogą być pomocne w niektórych przypadkach, ich rutynowe stosowanie nie jest obecnie zalecane i powinno być rozważane tylko u pacjentów z wysokim klinicznym podejrzeniem APS.22

Diagnostyka obrazowa w APS

Badania obrazowe mogą być pomocne w potwierdzeniu zdarzenia zakrzepowego i ocenie narządów dotkniętych chorobą:2324

  • Echokardiografia dwuwymiarowa – może wykazać bezobjawowe pogrubienie zastawek, wegetacje lub niewydolność zastawkową
  • Rezonans magnetyczny (MRI) – ocena obecności zakrzepów i zmian niedokrwiennych, szczególnie w mózgu
  • Angiografia tomografii komputerowej (CT) – ocena naczyń
  • Przezczaszkowa ultrasonografia dopplerowska – pomiar przepływu krwi przez tętnice u podstawy mózgu

Wskazania do diagnostyki w kierunku APS

Badania w kierunku APS powinny być rozważone u pacjentów z:1025

  • Zakrzepicą tętniczą, żylną lub mikronaczyniową, szczególnie u osób poniżej 50. roku życia
  • Zakrzepicą o nieznanej przyczynie lub występującą w nietypowych lokalizacjach
  • Nawracającymi poronieniami lub powikłaniami ciąży
  • Trombocytopenią o nieznanej przyczynie
  • Toczniem układowym lub innymi chorobami autoimmunologicznymi
  • Udarem mózgu u osób poniżej 50. roku życia

Nie zaleca się rutynowego badania bezobjawowych osób w kierunku APS, z wyjątkiem pacjentów z toczniem rumieniowatym układowym (SLE).25

Problemy diagnostyczne w APS

Diagnostyka APS może być wyzwaniem z kilku powodów:2627

  • Niezdiagnozowanie – APS może nie zostać rozpoznany, jeśli objawy są przypisywane innym chorobom lub jeśli nie zostaną wykonane odpowiednie testy laboratoryjne
  • Naddiagnozowanie – nie każdy dodatni wynik testu na obecność przeciwciał antyfosfolipidowych jest klinicznie istotny; sama obecność przeciwciał bez objawów klinicznych nie uprawnia do diagnozy APS
  • Podobieństwo objawów do stwardnienia rozsianego – niektóre objawy neurologiczne APS mogą przypominać stwardnienie rozsiane, co może prowadzić do błędnej diagnozy28
  • Wpływ leczenia przeciwzakrzepowegoterapia przeciwzakrzepowa może wpływać na wyniki testów, zwłaszcza antykoagulantu toczniowego15
  • Wyniki fałszywie dodatnie – mogą występować w ostrej fazie zakrzepicy, w ciąży, w przebiegu infekcji lub przy stosowaniu niektórych leków29

Postępowanie diagnostyczne w APS

Prawidłowe postępowanie diagnostyczne w przypadku podejrzenia APS obejmuje:3031

  1. Dokładny wywiad medyczny i badanie fizykalne
  2. Wykonanie testów laboratoryjnych na obecność przeciwciał antyfosfolipidowych (LA, aCL, anty-β2GPI)
  3. Powtórzenie badań laboratoryjnych po co najmniej 12 tygodniach w celu potwierdzenia trwałej obecności przeciwciał
  4. Ocenę objawów klinicznych wskazujących na APS (zakrzepica, powikłania położnicze)
  5. Wykluczenie innych przyczyn obserwowanych objawów
  6. Konsultację z reumatologiem lub innym specjalistą doświadczonym w diagnostyce APS

Szczególne sytuacje kliniczne

W niektórych sytuacjach klinicznych diagnostyka APS wymaga szczególnego podejścia:3233

  • Katastrofalny zespół antyfosfolipidowy (CAPS) – najcięższa postać APS, charakteryzująca się zakrzepicą wielu narządów w krótkim czasie, diagnozowana na podstawie International Consensus Statement. Definicyjna diagnoza CAPS wymaga: zakrzepów w trzech lub więcej narządach lub tkankach, rozwoju objawów jednocześnie lub w czasie krótszym niż tydzień, potwierdzenia zakrzepów małych naczyń w co najmniej jednym narządzie lub tkance oraz laboratoryjnego potwierdzenia obecności przeciwciał aPL.33
  • APS w ciąży – wymaga szczególnej uwagi ze względu na ryzyko powikłań. Profil przeciwciał aPL najlepiej oceniać w pierwszym trymestrze ciąży.18
  • APS z objawami ocznymi – może manifestować się szerokim spektrum objawów ocznych, które mogą być wczesnym sygnałem APS i powinny prowadzić do diagnostyki w kierunku tego zespołu.32
  • APS z zaburzeniami ruchu – najczęstszym zaburzeniem ruchu w APS jest pląsawica, występująca u 1-4% pacjentów i mogąca być objawem prezentującym. W przypadku nowo rozpoznanej pląsawicy warto przeprowadzić badania laboratoryjne w kierunku obecności ANA, przeciwciał przeciwko dwuniciowemu DNA i aPL.34

Implikacje kliniczne diagnostyki APS

Właściwa diagnoza APS ma istotne implikacje dla postępowania terapeutycznego:1135

  • Pacjenci z APS i historią zakrzepów zazwyczaj wymagają długoterminowej terapii przeciwzakrzepowej, takiej jak warfaryna, heparyna lub kwas acetylosalicylowy
  • Pacjenci z przeciwciałami aPL, ale bez historii zakrzepów, mogą nie wymagać leczenia lub mogą otrzymać profilaktyczne dawki kwasu acetylosalicylowego
  • Kobiety w ciąży z APS i historią powikłań położniczych zazwyczaj otrzymują kombinację niskodawkowego kwasu acetylosalicylowego i heparyny drobnocząsteczkowej
  • Pacjenci z katastrofalnym APS wymagają agresywnego leczenia, obejmującego antykoagulanty, steroidy, dożylne immunoglobuliny i plazmaferezę

Podsumowanie diagnostyki APS

Diagnostyka zespołu antyfosfolipidowego opiera się na kombinacji kryteriów klinicznych i laboratoryjnych. Kluczowe znaczenie ma wykrycie trwałej obecności przeciwciał antyfosfolipidowych (LA, aCL, anty-β2GPI) w połączeniu z charakterystycznymi objawami klinicznymi, takimi jak zakrzepica lub powikłania położnicze. Ważne jest, aby badania laboratoryjne były powtórzone po co najmniej 12 tygodniach w celu potwierdzenia diagnozy.

Ze względu na złożoność APS i potencjalne trudności diagnostyczne, zaleca się współpracę między specjalistami z różnych dziedzin (reumatologia, hematologia, położnictwo, neurologia) oraz krytyczną ocenę wyników laboratoryjnych, biorąc pod uwagę ograniczenia stosowanych testów. Wczesna i prawidłowa diagnoza ma zasadnicze znaczenie dla wdrożenia odpowiedniego leczenia, które może zapobiec poważnym powikłaniom, takim jak nawracające zakrzepy, udary czy poronienia.

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  1. 10.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1
    https://www.nhs.uk/conditions/antiphospholipid-syndrome/diagnosis/
    An accurate diagnosis of antiphospholipid syndrome (APS) is important because blood clots can have serious consequences. […] Diagnosis of APS is based on the results of specific blood tests and a medical assessment. […] To diagnose APS, the blood needs to be tested for the abnormal antiphospholipid antibodies that increase the risk of blood clots. […] A diagnosis of APS can only be made after 2 abnormal blood test results, with at least a 12-week gap between them. […] If blood tests confirm you have APS, your medical history will be carefully assessed to check whether you have experienced any previous symptoms that may be caused by APS. […] A diagnosis of APS can usually be confirmed if you have had 1 or more confirmed blood clots and, if applicable: 1 or more unexplained late miscarriage at or after week 10 of your pregnancy, 1 or more premature birth at or before week 34 of your pregnancy, 3 or more unexplained early miscarriages before week 10 of your pregnancy.
  • #2 Antiphospholipid syndrome: Diagnosis – UpToDate
    https://www.uptodate.com/contents/antiphospholipid-syndrome-diagnosis
    Antiphospholipid syndrome (APS) is a clinical and laboratory diagnosis characterized by both persistent laboratory evidence of antiphospholipid antibodies (aPL) and related complications, which may include venous thrombosis, arterial thrombosis, adverse pregnancy outcomes, and nonthrombotic manifestations (eg, heart valve thickening, livedo reticularis/racemosa). APS occurs either as a primary condition or in the setting of an underlying disease, usually systemic lupus erythematosus (SLE). […] The diagnosis and classification criteria for APS are reviewed here. […] The diagnosis and classification criteria for APS are reviewed here.
  • #3 Antiphospholipid Syndrome – APS | Choose the Right Test
    https://arupconsult.com/content/antiphospholipid-syndrome
    Antiphospholipid syndrome (APS), also known as antiphospholipid antibody syndrome, is an autoimmune disorder in which autoantibodies are directed against phospholipid-protein complexes. APS is characterized by thromboses (arterial, venous, or small vessel) and/or pregnancy complications and persistently positive tests for antiphospholipid-protein (aPL) antibodies. […] Currently, no formal diagnostic criteria exist for antiphospholipid syndrome (APS). However, the revised Sapporo (Sydney) classification system for APS, which comprises clinical and laboratory criteria intended for clinical research, has been used in a clinical setting to inform diagnosis. […] Three test groups, used together, are recommended for antiphospholipid syndrome (APS) diagnosis. They include lupus anticoagulant (LA), anticardiolipin (aCL) antibodies (immunoglobulin G [IgG] and IgM), and anti-beta-2 glycoprotein 1 (anti-2GP1) antibodies (IgG and/or IgM).
  • #4 Antiphospholipid Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK430980/
    Antiphospholipid syndrome is characterized by the presence of antiphospholipid antibodies in the setting of thrombosis or pregnancy loss or complications. […] Laboratory tests, including enzyme-linked immunosorbent assay (ELISA) and functional assays, are used to identify APS. […] In addition to clinical criteria, diagnosing APS requires lupus anticoagulant or moderate-to-high titers of IgG or IgM anticardiolipin or anti-2GPI antibodies. […] A positive lupus anticoagulant test is the strongest predictor of adverse pregnancy-related events. […] The initial classification criteria, known as the Sapporo criteria, were published in 1999 and updated in 2006. […] The updated 2023 American College of Rheumatology/European Alliance of Associations for Rheumatology (EULAR) APS classification criteria include an entry criterion of at least one positive antiphospholipid antibody (APLA) test within 3 years of an APS-associated clinical criterion. […] The EULAR has set forth specific guidelines for various clinical scenarios. […] The role of anticoagulation has not been established in other non-criteria manifestations of APS. […] Early diagnosis of CAPS is crucial due to its high mortality rates.
  • #5 Guidelines on the investigation and management of antiphospholipid syndrome
    https://b-s-h.org.uk/guidelines/guidelines/guidelines-on-the-investigation-and-management-of-antiphospholipid-syndrome
    Antiphospholipid syndrome (APS) is an autoimmune disease characterised by thrombosis (venous, arterial and/or microvascular) and/or pregnancy morbidity in association with persistently positive antiphospholipid antibodies (aPL). […] The diagnosis of APS requires the presence of at least one clinical event (either an objectively confirmed thrombotic event and/or pregnancy complication) and detection of one or more aPL (lupus anticoagulant [LA], IgG/IgM anticardiolipin [aCL] and/or IgG/IgM anti-2 glycoprotein-1 [a2GPI]) on two or more occasions at least 12 weeks apart. […] Diagnosis of APS in routine clinical practice is less restrictive than the ACR/EULAR APS classification criteria; their strict application in routine practice to diagnose individual patients should be avoided. […] The diagnosis of APS should depend on careful clinical assessment, paying attention to alternative causes of thrombosis or pregnancy morbidity and critical evaluation of laboratory results considering the limitations of the laboratory assays. […] Current clinical practice is based on the evidence derived from the clinical studies from patients with APS diagnosed as per revised Sapporo criteria.
  • #6 Laboratory Diagnosis of Antiphospholipid Syndrome: Insights and Hindrances
    https://pmc.ncbi.nlm.nih.gov/articles/PMC9025581/
    Diagnosis of antiphospholipid syndrome (APS) requires the presence of a clinical criterion (thrombosis and/or pregnancy morbidity), combined with persistently circulating antiphospholipid antibodies (aPL). Currently, laboratory criteria aPL consist of lupus anticoagulant (LAC), anticardiolipin antibodies (aCL) IgG/IgM, and anti-2 glycoprotein I antibodies (a2GPI) IgG/IgM. […] Diagnosis and risk stratification of APS are complex and efforts to standardize and optimize laboratory tests have been ongoing since the initial description of the syndrome. […] Current insights and hindrances are addressed with respect to both laboratory and clinical implications. […] According to the current guidelines, LAC, aCL IgG/IgM, and a2GPI IgG/IgM are considered as laboratory criteria for APS. […] Patients with high clinical suspicion of having APS, but without presence of criteria aPL, are suggested to have seronegative APS (SNAPS).
  • #7 Antiphospholipid syndrome | Radiology Reference Article | Radiopaedia.org
    https://radiopaedia.org/articles/antiphospholipid-syndrome?lang=us
    Antiphospholipid syndrome (APS or APLS), also known as Hughes syndrome, is a systemic autoimmune disorder. It is usually defined as the clinical complex of vascular occlusion and ischemic events occurring in patients with circulating antiphospholipid antibodies. […] Diagnosis is made using the revised Sapporo criteria, in which patients need to meet at least one clinical and at least one laboratory criteria to fulfill the diagnosis of antiphospholipid syndrome. […] clinical criteria: vascular thrombosis: 1 episode of venous, arterial, or small vessel thrombosis in any tissue or organ. […] laboratory criteria (detected on 2 occasions on testing at least 12 weeks apart): anticardiolipin antibodies, anti-beta2-glycoprotein I antibodies, lupus anticoagulant.
  • #8 Antiphospholipid syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Antiphospholipid_syndrome
    Antiphospholipid syndrome, or antiphospholipid antibody syndrome (APS or APLS), is an autoimmune, hypercoagulable state caused by antiphospholipid antibodies. APS can lead to blood clots (thrombosis) in both arteries and veins, pregnancy-related complications, and other symptoms like low platelets, kidney disease, heart disease, and rash. […] Diagnosis is made based on symptoms and testing, but sometimes research criteria are used to aid in diagnosis. The research criteria for definite APS requires one clinical event (i.e. thrombosis or pregnancy complication) and two positive blood test results spaced at least three months apart that detect lupus anticoagulant, anti-apolipoprotein antibodies, and/or anti-cardiolipin antibodies. […] Diagnosis of antiphospholipid syndrome is often made through the combination of symptoms and testing. Repeat antibody testing 12 weeks after discovering the presence of antiphospholipid antibodies (aPL) is needed to establish a diagnosis because false positives can occur.
  • #9 Antiphospholipid syndrome – Diagnosis & treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/antiphospholipid-syndrome/diagnosis-treatment/drc-20355836
    If you’ve had episodes of blood clots or pregnancy loss that aren’t explained by known health conditions, your health care provider can schedule blood tests to check for clotting and for the presence of the antibodies associated with antiphospholipid syndrome. […] To confirm a diagnosis of antiphospholipid syndrome, the antibodies must appear in your blood at least twice, in tests conducted 12 or more weeks apart. […] A diagnosis of antiphospholipid syndrome is made only when these antibodies cause health problems.
  • #10 Antiphospholipid Syndrome – APS | Choose the Right Test
    https://arupconsult.com/content/antiphospholipid-syndrome
    Testing during acute thrombotic episodes is not recommended, as the presence of acute phase reactants (eg, factor VIII or C-reactive protein) can lead to false-positive and false-negative lupus anticoagulant (LA) test results. […] Because antiphospholipid-protein (aPL) antibodies can occur transiently, persistent positivity on consecutive testing occasions is required for classification as antiphospholipid syndrome (APS). […] Laboratory testing for APS is appropriate in individuals who have an increased likelihood of the disorder, including those with arterial thrombosis, unprovoked venous thrombosis, or evidence of brain ischemia before 50 years of age. […] Although no formal diagnostic criteria exist for APS, the following classification system (which includes clinical and laboratory criteria intended for clinical research studies) can be used to inform diagnosis.
  • #11 Antiphospholipid Syndrome: Diagnosis & Treatment | HSS
    https://www.hss.edu/condition-list_antiphospholipid-syndrome.asp
    There are three blood tests which can confirm a diagnosis of APS if strongly positive results are consistent when two or more tests are performed at least 12 weeks apart: lupus anticoagulant test, anticardiolipin antibody (aCL) IgG or IgM, anti-Beta-2-glycoprotein-I antibody (a2GPI) IgG or IgM. […] Anyone positive for antiphospholipid antibodies who experiences a blood clot, has a stroke, or who is pregnant or planning to become pregnant should consult a physician with expertise in APS as soon as possible. […] APS patients with a history of blood clots are usually placed on a long-term plan of anticoagulant medications (commonly called blood thinners), such as aspirin, warfarin, or heparin. Other medications are used to treat a subgroup of APS patients. […] Any person who has had multiple blood clots due to APS will likely need to take anticoagulation medications for life in order to manage the disease.
  • #12 About APS | antiphospholipid syndrome | Blood tests
    https://aps-support.org.uk/about-aps/how-is-it-diagnosed/blood-tests
    There are three main blood tests used to diagnose APS and they are all looking for antiphospholipid antibodies (aPL): Anticardiolipin antibodies (aCL), Lupus anticoagulant (LA), Anti-beta2-glycoprotein-1 (anti-B2GP1). […] It is usually advisable to repeat the blood tests as one positive test for aPL does not necessarily mean that a person has APS. […] The aCL test is not perfect which is why it is also necessary to perform the other two tests the LA and the anti-B2GP1. […] The LA test is somewhat imperfect, being positive in about 50% of APS patients. Nonetheless, it can be positive in the face of a negative aCL test and is, therefore, widely used. […] Some laboratories now include an assay for anti-B2GP1 for completeness and extra precision when testing, and it is usually tested on patients who have obvious symptoms of APS but have consistently negative aCL and LA test results.
  • #13 117079: Antiphospholipid Syndrome (APS) Profile | Labcorp
    https://www.labcorp.com/tests/117079/antiphospholipid-syndrome-aps-profile
    Test Number 117079Test number copied CPT 85598; 85610; 85613; 85670; 85730; 86146(x2); 86147(x2) […] Clot; enzyme-linked immunosorbent assay (ELISA). A written assessment of the APS profile results is also provided as an aid in interpretation. […] In order to determine the presence of APS, both lupus anticoagulants (LA) and immunoassays for anticardiolipin and 2GP1 antibodies should be performed. […] The International Society of Thrombosis and Haemostasis (ISTH) has established criteria for the diagnosis of lupus anticoagulants; there is also an international consensus statement describing criteria for antiphospholipid syndrome diagnosis. […] The laboratory criteria for definitive APS include one or more of the following; positive anticardiolipin IgG or IgM antibody at significant titer (40 GPL or MPL units), positive 2GP1 IgG or IgM antibody, positive LA, and at least one result must demonstrate persistence of positivity at an interval of at least 12 weeks. […] Testing for lupus anticoagulant, anticardiolipin and 2GP1, and the antiphospholipid syndrome that is associated with these antibodies is described in more detail in the online coagulation appendices: Lupus Anticoagulants and Antiphospholipid Syndrome.
  • #14 Laboratory Diagnosis of Antiphospholipid Syndrome: Insights and Hindrances
    https://pmc.ncbi.nlm.nih.gov/articles/PMC9025581/
    Currently, a new international, multidisciplinary initiative is undertaken for development of new, comprehensive APS classification criteria. […] Diagnosis of APS is based on presence of at least one clinical criterion, whether or not accompanied by other non-criteria manifestations, and presence of at least one laboratory criterion over at least 12 weeks. Laboratory criteria consist of lupus anticoagulant (LAC), anticardiolipin (aCL) IgG/IgM antibodies, and anti-2 glycoprotein I (a2GPI) IgG/IgM antibodies. […] Risk for clinical events is highest for patients with triple- and double-positive profiles. […] Higher risk is also observed for IgG aCL/a2GPI compared to IgM, and higher IgG titers are more associated with clinical events compared to lower positive titers. […] Antiphospholipid antibodies present in the patient plasma sample will compete with coagulation factors for phospholipids through binding with phospholipid-bound cofactors such as 2-glycoprotein I, resulting in a prolonged clotting time.
  • #15 Laboratory Diagnosis of Antiphospholipid Syndrome: Insights and Hindrances
    https://pmc.ncbi.nlm.nih.gov/articles/PMC9025581/
    Positive screening assays are followed by mixing and confirmation tests. […] The term LAC comprises a heterogeneous group of autoantibodies, responsible for prolongation of phospholipid-dependent coagulation tests. […] LAC testing is prone to interferences. […] Anticoagulation treatment complicates LAC testing and interpretation by prolonging aPTT and dRVVT. […] Information on the patients anticoagulation status is mandatory for adequate interpretation of results. […] All criteria aPL should be reported separately, but with an overall interpretation as the antibody profile determines the risk for clinical events in APS.
  • #16 Laboratory Diagnosis of Antiphospholipid Syndrome in Anticoagulated Patients
    https://www.mdpi.com/2227-9059/11/6/1760
    Until recently, the laboratory diagnosis of APS was deemed not strictly needed when patients were already started on anticoagulation because of acute venous thromboembolism. […] The above situation requires that patients with acute venous thromboembolism of unknown origin, who have been started on DOAC treatment must be referred as soon as possible to the laboratory for diagnosis of APS and, if triple positive, must be promptly switched to vitamin K antagonists to prevent recurrent events. […] It should, however, be realized that in addition to DOAC, most anticoagulant drugs may have detrimental effects on APS laboratory diagnosis. […] Laboratory operators and clinicians dealing with patients on treatment for cardiovascular diseases should be aware that anticoagulation of any type may be responsible for false-negative or false-positive LA results. Since LA detection is crucial to define triple positivity for APS, it is paramount that (whenever possible) blood samples for the laboratory diagnosis of APS be collected before starting anticoagulation.
  • #17 Antiphospholipid Syndrome (APS) Diagnostics
    https://www.diagnostic.grifols.com/en/-/learning/antiphospholipid-syndrome-aps-diagnostics
    Antiphospholipid syndrome (APS) is a systemic autoimmune disease that increases the risk of blood clots. […] This topic will examine key diagnostics for antiphospholipid syndrome. […] The diagnosis of APS may be based on clinical symptoms of thrombosis or pregnancy complications, or it may include the identification of certain antibodies in the blood through laboratory tests. There are three primary diagnostic markers for APS. Two of these are aPL antibodies: anticardiolipin (aCL) antibodies and anti-beta-2 glycoprotein 1 (aB2GP1) antibodies. The third is lupus anticoagulant (LA), which is associated with clotting time. […] A high-risk aPL profile is associated with an elevated risk of thrombosis and pregnancy complications. […] Positive titers for aPhS have been reported in 70% of patients with thrombotic or obstetric problems in whom APS was confirmed.
  • #18 Antiphospholipid Syndrome Workup: Laboratory Studies, Imaging Studies, Histologic Findings
    https://emedicine.medscape.com/article/333221-workup
    The literature suggests that an abnormal LA finding is the laboratory test result that indicates the strongest risk for thrombosis. […] Currently, there is much investigation into risk-stratifying patients based on aPL profile, aPL titers, associated autoimmune disease, and other cardiovascular risk factors. […] A study of 97 pregnancies in women with a past history of APS concluded that aPL antibody profiling to determine obstetric risk is best performed during the first trimester of pregnancy. […] Thrombocytopenia is fairly common in patients with APS (22% at presentation, 30% cumulatively) and is therefore associated with paradoxical thrombosis. […] Additional antibodies directed against phospholipid/phospholipid-protein complexes for which testing may be useful in selected cases (seronegative APS, because they are not part of the 2006 consensus criteria) include the following:
  • #19 Antiphospholipid Syndrome (APS) Diagnostics
    https://www.diagnostic.grifols.com/en/-/learning/antiphospholipid-syndrome-aps-diagnostics
    Patients can have APS without a positive aPL or LA titer (seronegative APS). Diagnosis is then based on clinical symptoms and the absence of other disease, which could account for those symptoms. […] A scoring system, the Global Antiphospholipid Syndrome Score (GAPSS), has been developed to measure the probability of thrombosis in patients based on their aPL titer and other cardiovascular risk factors. The higher the score, the greater the risk. Patients with a score of 16 are 6 times more likely to experience thrombosis.
  • #20
    https://haematologica.org/article/view/9276
    Subjects positive for aPL have a low risk of developing thrombotic events (1%/year), but after a first episode, the risk of recurrence increases by 10-67%. […] The first definition of SN-APS was given in 2003 by Hughes and Khamashta who described patients with clinical manifestations highly suggestive of APS in absence of the laboratory criteria such as LAC, aCL and a2GPI antibodies. […] Seronegative APS is usually a diagnosis of exclusion and should be suspected in patients with a clinical history suggestive of APS, such as those with recurrent arterial venous thrombotic events, recurrent miscarriage, or unexplained thrombocytopenia, with persistent negativity of aPL tested on at least two occasions, and when other causes of thrombosis are excluded, such as genetic thrombophilia (factor V and II mutations), active cancer, trauma, major surgery, or prolonged bed rest.
  • #21 Antiphospholipid Syndrome – APS | Choose the Right Test
    https://arupconsult.com/content/antiphospholipid-syndrome
    Recommended first-line testing for possible APS includes LA clot-based assays, tests for aCL IgG and IgM antibodies, and tests for anti-2GP1 IgG and IgM antibodies, which are available separately or as a panel. […] If positive, laboratory tests should be repeated at least 12 weeks later to confirm persistent positivity. […] In recent decades, noncriteria aPL tests have been investigated for their potential value in APS diagnosis or risk assessment.
  • #22
    https://haematologica.org/article/view/9276
    To better characterize the entity of SN-APS, antibodies against different phospholipids or protein co-factors have been investigated in patients negative to conventional aPL. […] A collaborative USA/UK study analyzed a comprehensive panel of non-criteria aPL tests in a series of 175 consecutive patients matching the criteria for APS and 68 SN-APS patients with clinical manifestations suggestive of APS but having negative serology. […] The study concluded that patients with clinical features of APS, but negative for conventional criteria markers, should undergo additional testing for non-criteria biomarkers. […] The diagnosis of SN-APS should be formulated only after the exclusion of other causes of inherited and acquired thrombophilic conditions. […] Although several different antibodies to a number of antigens are involved in SN-APS, the routine testing of these non-criteria antibodies is not recommended, but may be considered in patients with a high clinical suspicion of APS, such as those presenting with recurrent unexplained thrombosis, thrombosis at unusual sites, or women with recurrent pregnancy-related complications.
  • #23 Antiphospholipid Syndrome Workup: Laboratory Studies, Imaging Studies, Histologic Findings
    https://emedicine.medscape.com/article/333221-workup
    Imaging studies are helpful for confirming a thrombotic event. […] Two-dimensional echocardiography findings may demonstrate asymptomatic valve thickening, vegetations, or valvular insufficiency. […] In contrast to the findings in inflammatory autoimmune diseases, histologic studies of skin or other involved tissue in APS reveal a noninflammatory bland thrombosis with no signs of perivascular inflammation or leukocytoclastic vasculitis.
  • #24 Antiphospholipid Antibody Syndrome (APS) | Cedars-Sinai
    https://www.cedars-sinai.org/health-library/diseases-and-conditions/a/antiphospholipid-antibody-syndrome-aps.html
    Diagnosis of APS usually begins with a physical exam and a review of the patient’s medical history and symptoms. A positive diagnosis of the condition is based on the patient’s symptoms as well as the findings of blood tests. Other diagnostic tools may be used to better understand the patient’s condition. Note that the blood tests may need to be repeated more than once to secure a diagnosis. […] A blood test is the only way to positively diagnose APS. The blood sample will be examined under a microscope to determine if one of the following three antibodies is present: […] Other diagnostic tools may include magnetic resonance imaging (MRI) and computed tomography (CT) angiography, which can be used to observe the condition and the area affected by disorder. Other tests look exclusively at the blood vessels, such as an angiogram. […] A transcranial Doppler ultrasound may be used to measure the blood that is flowing through the arteries at the base of the brain.
  • #25 Diagnosis and management of antiphospholipid syndrome – Australian Prescriber
    https://australianprescriber.tg.org.au/articles/diagnosis-and-management-of-antiphospholipid-syndrome.html
    Antiphospholipid syndrome is an autoimmune disease characterised by thrombotic and/or obstetric manifestations with persistent antiphospholipid antibodies. […] Diagnosis involves confirming the persistence of antiphospholipid antibodies in symptomatic patients, using validated classification criteria as a guide. […] Patients who have had thrombotic manifestations require lifelong anticoagulation from the first thrombotic event, typically with warfarin. […] Testing asymptomatic people is not recommended, except in the context of systemic lupus erythematosus. […] Patients are usually investigated for APS following the occurrence of a suggestive clinical manifestation. Confirming the diagnosis involves testing for the persistence of antiphospholipid antibodies and interpreting these results in the context of the patients clinical presentation, using validated classification criteria as a guide.
  • #26 Antiphospholipid Syndrome: Classification vs. Diagnosis
    https://www.hss.edu/conditions_top-ten-points-classification-versus-diagnosis-antiphospholipid-syndrome-how-are-they-different.asp
    Antiphospholipid syndrome (APS) is an autoimmune disorder typically characterized by blood clots and pregnancy complications. However, the spectrum of APS-related clinical symptoms is much broader. […] The goal of diagnostic criteria is to identify, as accurately as possible, whether patients have that particular disease. […] Yes, the revised Sapporo APS Classification Criteria have been used for classifying APS patients. […] New APS classification criteria are based on a weighted point system of symptoms, physical examination findings, and laboratory results. […] There are no diagnostic criteria for APS. […] Antiphospholipid syndrome diagnosis can be challenging due to two problems: missed diagnosis and over-diagnosis. […] The goal of the APS classification criteria is to identify patients that have a high likelihood of having APS based on common and typical APS-related clinical manifestations. […] There are efforts to develop new tests to diagnose APS. […] Even if you have a clinically significant aPL profile, it does not mean that you have APS. […] Not necessarily. Lupus anticoagulant is one of the tests to detect aPL.
  • #27 Diagnosis and management of antiphospholipid syndrome – Australian Prescriber
    https://australianprescriber.tg.org.au/articles/diagnosis-and-management-of-antiphospholipid-syndrome.html
    Reliable confirmation of persistent antiphospholipid antibodies is crucial for accurate diagnosis. […] Testing for antiphospholipid antibodies should be limited to patients in whom there is a high clinical suspicion of APS. […] When ordering antiphospholipid antibody tests or interpreting test results, there are potential pitfalls that should be considered. […] Classification criteria for APS were developed to identify homogeneous patient cohorts for clinical studies; however, they can be helpful in practice to guide diagnosis. […] The detection of persistent antiphospholipid antibodies is key to the diagnosis and risk stratification of patients with APS.
  • #28
    https://www.nhs.uk/conditions/antiphospholipid-syndrome/
    Diagnosing APS can sometimes be difficult, as some of the symptoms are similar to multiple sclerosis. […] This means blood tests to identify the antibodies responsible for APS are essential in diagnosing the condition.
  • #29 Episode 134: VTE Series – Diagnosis of Antiphospholipid Antibody Syndrome — The Fellow On Call
    https://www.thefellowoncall.com/tfocpodcast/aplsdiagnosis
    Antiphospholipid antibodies are not synonymous with antiphospholipid (antibody) syndrome and lupus anticoagulant is not synonymous with lupus (SLE)! […] APS is a systemic autoimmune disease that is characterized by thrombotic or obstetric complications in the presence of persistently positive antiphospholipid antibodies […] The presence of these antibodies increases the risk for both venous and arterial thromboembolic events, which is unique! […] Younger patients ( 50 years of age) who have unexplained thrombotic events (venous or arterial) or microvascular disease (end organ dysfunction or evidence of vascular compromise) […] There is a possibility of false positive testing in the setting of acute thrombosis […] Normal aPTT does not rule out APS! […] Both clinical and laboratory findings are required to have a diagnosis of APS […] Until the patient has repeat testing and it is proven that antibodies are present at least 12 weeks apart, the patient does not have an official diagnosis of antiphospholipid antibody syndrome.
  • #30 How Is Antiphospholipid Antibody Syndrome Diagnosed? | Hematology-Oncology Associates of CNY
    https://www.hoacny.com/patient-resources/blood-disorders/antiphospholipid-antibody-syndrome/how-antiphospholipid-antibody
    Your doctor will diagnose antiphospholipid antibody syndrome (APS) based on your medical history and the results from blood tests. […] To be diagnosed with APS, you must have APS antibodies and a history of health problems related to the disorder. […] Your doctor can use blood tests to confirm a diagnosis of APS. […] To test for APS antibodies, a small blood sample is taken. […] You may need a second blood test to confirm positive results.
  • #31 APS | APS Foundation of America, Inc.
    https://apsfa.org/aps/
    This page is a laymans terms summary of Antiphospholipid Syndrome (APS). It covers such topics as diagnosis, symptoms, treatment, and coping. It is meant for patients newly diagnosed, however would also be good for informing friends and family about your disease. […] Physicians use a combination of clinical symptoms (see above) and laboratory tests to diagnose APS. The common blood tests for antiphospholipid antibodies are as follows: […] If you test positive for any of the above tests, testing will be done 12 weeks later to confirm your diagnosis. […] There is no cure for APS, but there is treatment. The treatment of choice for patients with APS who have had a blood clot is anticoagulant therapy. This is usually successful in preventing further clots. […] Many women with APS are unaware they have the condition, but it can be diagnosed with a blood test. Doctors may consider the diagnosis when a woman has repeated, unexplained pregnancy loss.
  • #32 Current concepts in the diagnosis and management of antiphospholipid syndrome and ocular manifestations | Journal of Ophthalmic Inflammation and Infection | Full Text
    https://joii-journal.springeropen.com/articles/10.1186/s12348-021-00240-8
    Ocular involvement of APS may show up with a wide range of clinical manifestations and symptoms. […] The classic clinical presentation of APS is characterized by venous and arterial thrombosis, fetal losses, and thrombocytopenia. […] The most severe life-threatening form of APS is called catastrophic antiphospholipid syndrome (CAPS). […] Recently, arterial and venous thromboses have been described as severe complications of coronavirus disease 2019 (COVID-19), caused by the novel severe acute respiratory system coronavirus (SARS-CoV-2). […] Ocular findings are seen in 15-88% of patients with primary APS. Taking into account the higher frequency of ocular findings of APS, regular consult with an ophthalmologist may be able to detect early signs leading to a diagnosis of APS and may prevent life-threatening conditions associated with systemic thrombosis. […] Since APS is common and has a variety of ocular findings, early recognition of the ocular manifestations related with APS syndrome is crucial in order to prevent future thrombotic events and life-threatening morbidities.
  • #33 Antiphospholipid syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Antiphospholipid_syndrome
    Because there are no agreed upon diagnostic criteria for APS, research classification criteria are sometimes used to aid in diagnosis. The Sapporo APS classification criteria (1998, published in 1999) were replaced by the Sydney criteria in 2006. The Sydney criteria requires one clinical (thrombosis or pregnancy related) manifestation and persistent presence of one or more APS antibody. […] In terms of catastrophic APS, the International Consensus Statement is commonly used for diagnosis. Based on this statement, Definite CAPS diagnosis requires: Blood clot in three or more organs or tissues and Development of manifestations simultaneously or in less than a week and Evidence of small vessel blood clot in at least one organ or tissue and Laboratory confirmation of the presence of aPL.
  • #34 Movement Disorders in Antiphospholipid Syndrome & Systemic Lupus Erythematosus
    https://practicalneurology.com/articles/2020-sept/movement-disorders-in-antiphospholipid-syndrome-systemic-lupus-erythematosus
    Other hyperkinetic movement disorders have been reported in association with APS. […] A series of 2 cases of hyperkinetic movement disorders associated with APS includes a person who presented with tics associated with dysarthria and psychiatric symptoms, elevated aCL IgG, and a positive dilute Russell viper venom test (DRVVT) for LA. […] There are 8 cases associated with parkinsonism reported to date, 7 of which were associated with ischemic-appearing changes on MRI. […] A variety of movement disorders have been recognized in the context of APS and SLE, although chorea is by far the most commonly reported. […] Because chorea may be the presenting symptom in APS and SLE, laboratory testing for the presence of ANA, antidouble-stranded DNA, and aPL should be included in the initial work-up of new-onset chorea.
  • #35 Antiphospholipid Syndrome (APS) – Diagnosis and Treatment
    https://www.uofmhealth.org/conditions-treatments/rheumatology/antiphospholipid-syndrome-diagnosis-and-treatment
    Diagnosis of Antiphospholipid Syndrome (APS) begins with a review of a patients medical history and a series of blood tests that check for the presence of antibodies that attack phospholipids. It is typical to perform these tests at least 12 weeks apart, to measure changes in the antibodies over time. […] When APS is suspected, a patient should be referred to a rheumatologist for further evaluation and treatment. (Note that it is not always necessary to complete all of the blood tests for a doctor to suspect APS and seek a referral). […] There is currently no cure for APS. The goal of treatment is to prevent future blood clots from forming and to avoid additional damage to organs. […] Blood thinners (anticoagulants) are typically part of the treatment regimen, although these do not prevent all cases of blood clotting in APS. Additional medications and lifestyle changes may also be recommended for some patients. […] Its estimated that 30 to 50 percent of people with APS also have a second autoimmune disease such as lupus. It is important to diagnose and control these conditions as well, in order to improve outcomes related to APS.