Antiphospholipid syndrome (APS), also called Hughes syndrome is an autoimmune condition in which autoantibodies (proteins formed against normal tissues) are formed in the body. These antibodies increase the formation of abnormal blood clots (thrombosis) in various parts of the body. Women who are diagnosed with antiphospholipid syndrome are at increased risk of pregnancy-related complications such as an underdeveloped placenta (placental insufficiency), premature delivery of the baby, high blood pressure (preeclampsia), recurrent pregnancy loss, and stillbirths.
Moreover, pregnant women are at a higher risk of having blood clots when compared to others. Infants who are born to mothers who suffer from antiphospholipid syndrome will be small and underweight. Individuals who are diagnosed with this condition are more likely to suffer from another autoimmune condition, namely systemic lupus erythematosus. Early diagnosis of APS syndrome with the help of a recurrent pregnancy loss panel will prevent pregnancy-related complications.
What causes antiphospholipid syndrome?
The causes of the antiphospholipid syndrome can be due to a variety of factors. It can be due to genetic, environmental, or lifestyle causes.
Genetic: The exact genetic cause of antiphospholipid syndrome is not known. The presence of autoantibodies such as lupus anticoagulant, anticardiolipin, and anti-B2 glycoprotein-1 antibodies in the blood can result in antiphospholipid syndrome. Individuals with antiphospholipid syndrome can test positive for one or more of these antibodies.
Environmental: Viral infections such as cytomegalovirus, slapped cheek syndrome (parvovirus B19), and bacterial infections such as E. coli and leptospirosis can lead to the formation of anti-phospholipid antibodies in the blood.
Lifestyle: Obesity, smoking, increased caffeine consumption, excess alcohol use, and oral contraceptive pills can develop antiphospholipid antibodies and increase the risk of blood clots and miscarriages.
Symptoms of APS
A few signs and symptoms of the antiphospholipid syndrome include:
• Headache
• Repeated miscarriages or stillbirths
• Blood clots in the legs
• Stroke or heart attack
• Anemia
• Rash
• Platelet deficiency
Laboratory Tests to Diagnose Cause of RPL
It is important to find out the cause of recurrent pregnancy loss so that measures can be taken to prevent it. A past medical history is helpful to find the probable cause of blood clots and recurrent abortions. A detailed physical examination is performed, followed by blood tests, imaging tests, and genetic testing for some individuals.
The blood tests that may help determine the causes of recurrent pregnancy loss include the following:
1. Antiphospholipid (APL) antibody: This blood test checks for the 3 most common antiphospholipid antibodies–lupus anticoagulant, anticardiolipin, and anti-beta 2 glycoprotein-1 antibodies. This test helps to detect blood clots or autoimmune diseases that may be the cause of repeated miscarriages.
Types of antiphospholipid antibodies measured during this test include:
• Lupus anticoagulant (LAC): Lupus anticoagulants attack phospholipids, which are a type of fat found in all living cells.
• Anticardiolipin antibody (ACL): Anticardiolipin antibodies attack cardiolipin (a phospholipid) found in the platelets and the outer layer of cells.
• Anti-beta 2 glycoprotein 1: Anti-beta 2 glycoprotein 1 (anti-β2GP1) antibodies are commonly found in systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS) patients.
2. Thyroid panel: A thyroid panel test detects the level of thyroid hormones in the blood. Abnormal ranges in the second trimester of pregnancy could be a risk factor and may lead to a miscarriage. Normal levels of TSH and low T3 and T4 hormones interpret hypothyroidism, and normal levels of TSH, high T3 and T4 hormones interpret hyperthyroidism.
3. Thrombophilia test: This test helps to detect blood clots that increase the risk of miscarriage or other problems during pregnancy.
4. Antinuclear antibodies test: This test detects the presence of antinuclear antibodies (ANA) that are related to adverse conditions during pregnancy. This is an immunoassay test, and positive results with high titers are related to autoimmune diseases such as systemic lupus erythematosus, systemic sclerosis, and Sjogren’s syndrome. The presence of ANA also affects pregnancy outcomes.
5. Hormone tests: This test detects the levels of certain hormones such as follicle-stimulating hormone (FSH) and anti-Mullerian hormone (AMH), which detect the production of eggs from the ovaries and determine the risk of pregnancy.
6. Genetic tests: These tests detect the cause of recurrent miscarriages, such as ‘parental karyotyping’. This karyotyping test helps to detect the chromosomal abnormalities that can cause recurrent loss of pregnancy.
Antiphospholipid syndrome can lead to severe complications during pregnancy. If the underlying cause is identified and treated properly at earlier stages, it is feasible to have a healthy pregnancy, and individuals can prevent the formation of blood clots. Therefore, it is recommended to undergo a complete investigation for an RPL panel diagnosis to prevent recurrent miscarriages.