Summary about Disease
Antiphospholipid syndrome (APS) is an autoimmune disorder where the body's immune system mistakenly produces antibodies that attack phospholipids, which are fats important for blood clotting. These antibodies increase the risk of blood clots forming in arteries and veins, and can lead to complications such as stroke, heart attack, deep vein thrombosis (DVT), pulmonary embolism (PE), and pregnancy complications like recurrent miscarriage, stillbirth, and premature birth. APS can occur alone (primary APS) or in association with other autoimmune diseases, such as lupus (secondary APS).
Symptoms
Symptoms of APS can vary widely depending on where blood clots occur. Common symptoms include:
Blood clots in legs (DVT): Pain, swelling, redness in the leg
Blood clots in lungs (PE): Shortness of breath, chest pain, coughing up blood
Stroke: Sudden weakness, numbness, difficulty speaking, vision problems, severe headache
Transient ischemic attack (TIA): "Mini-stroke" with similar symptoms to stroke, but resolving within a short period.
Recurrent miscarriages: Especially in the second or third trimester.
Livedo reticularis: A lace-like, mottled rash, especially on the legs and arms.
Thrombocytopenia: Low platelet count, which may lead to easy bruising or bleeding.
Headaches and migraines.
Cognitive dysfunction: Memory problems, difficulty concentrating.
Seizures.
Causes
The exact cause of APS is not fully understood, but it is believed to be a combination of genetic and environmental factors.
Autoantibodies: The primary cause is the presence of antiphospholipid antibodies (aPL), which include lupus anticoagulant (LA), anticardiolipin antibodies (aCL), and anti-beta2 glycoprotein I antibodies (anti-β2GPI).
Genetic Predisposition: Some people may have genes that make them more susceptible to developing APS.
Environmental Triggers: Infections, certain medications, and other autoimmune diseases can trigger the production of aPL in predisposed individuals.
Medicine Used
The primary goal of treatment is to prevent blood clots. Medications commonly used include:
Anticoagulants:
Warfarin (Coumadin): A vitamin K antagonist that requires regular blood monitoring (INR) to adjust the dose.
Heparin: Used for initial treatment of blood clots, and can be used during pregnancy.
Low-molecular-weight heparin (LMWH): Such as enoxaparin (Lovenox), also used during pregnancy.
Direct Oral Anticoagulants (DOACs): Such as rivaroxaban (Xarelto), apixaban (Eliquis), dabigatran (Pradaxa), and edoxaban (Savaysa). These are typically NOT recommended for patients with APS, particularly those with triple-positive aPL profiles (positive for all three antibodies).
Antiplatelet medications:
Aspirin: Used to help prevent blood clots, especially in people with arterial thrombosis or a history of pregnancy loss.
Immunosuppressants:
Hydroxychloroquine (Plaquenil): Can reduce the risk of blood clots and improve other symptoms.
Other immunosuppressants may be used in severe cases, especially when APS is associated with other autoimmune disorders.
Is Communicable
No, antiphospholipid syndrome is not communicable. It is an autoimmune disorder, not an infectious disease, and cannot be spread from person to person through any means.
Precautions
Precautions for people with APS include:
Medication Adherence: Take anticoagulant medications as prescribed and attend regular follow-up appointments for monitoring.
Lifestyle Modifications:
Avoid prolonged sitting or standing, especially on long trips.
Stay hydrated.
Maintain a healthy weight.
Quit smoking.
Get regular exercise.
Avoid Certain Medications: Certain medications, such as oral contraceptives containing estrogen, can increase the risk of blood clots. Discuss medications with your doctor.
Monitor for Symptoms: Be aware of the symptoms of blood clots and seek immediate medical attention if they occur.
Pregnancy Planning: Women with APS who are planning to become pregnant should consult with a rheumatologist and obstetrician experienced in managing APS during pregnancy.
Medical Alert Bracelet: Consider wearing a medical alert bracelet or carrying a card that identifies you as having APS and taking anticoagulants.
Inform Healthcare Providers: Always inform healthcare providers, including dentists, about your APS and anticoagulant therapy before any procedures.
How long does an outbreak last?
APS is not an infectious disease, so it doesn't have outbreaks in the same way a viral infection does. APS is a chronic condition that requires ongoing management. Individuals with APS typically need long-term anticoagulation therapy to prevent blood clots. Acute thrombotic events (blood clots) can occur at any time and require immediate medical intervention and can last for days/weeks
How is it diagnosed?
Diagnosis of APS requires a combination of clinical criteria (history of blood clots or pregnancy complications) and laboratory criteria (presence of antiphospholipid antibodies).
Clinical Criteria:
Vascular thrombosis: One or more episodes of blood clots in any organ or tissue.
Pregnancy morbidity: One or more unexplained deaths of a morphologically normal fetus at or beyond 10 weeks of gestation, or three or more unexplained consecutive pregnancy losses before 10 weeks of gestation, or one or more premature births of a morphologically normal neonate before 34 weeks of gestation due to eclampsia or severe preeclampsia, or placental insufficiency.
Laboratory Criteria:
Presence of one or more of the following antiphospholipid antibodies on two or more occasions, at least 12 weeks apart:
Lupus anticoagulant (LA)
Anticardiolipin antibodies (aCL) (IgG and/or IgM)
Anti-beta2 glycoprotein I antibodies (anti-β2GPI) (IgG and/or IgM)
The antibodies must be present at medium or high titer to be considered significant.
Timeline of Symptoms
The timeline of symptoms varies greatly. Some individuals may initially present with a single blood clot or pregnancy loss, while others may experience a series of events over time. There is no fixed timeline. The onset of APS can be sudden (e.g., a stroke) or gradual, with symptoms developing over months or years. Some people can test positive for the antibodies for years before ever experiencing a clot or pregnancy complication.
Important Considerations
Lifelong Management: APS is a chronic condition that typically requires lifelong management with anticoagulant therapy.
Risk of Recurrence: Even with treatment, there is a risk of recurrent blood clots or pregnancy complications.
Triple-Positive APS: Patients who are positive for all three antiphospholipid antibodies (lupus anticoagulant, anticardiolipin, and anti-beta2 glycoprotein I) are at higher risk for thrombotic events. DOACs are typically not recommended.
Pregnancy Management: Women with APS require specialized care during pregnancy to minimize the risk of complications.
Catastrophic APS (CAPS): A rare but life-threatening form of APS characterized by multiple organ involvement and widespread blood clots. It requires aggressive treatment.
Individualized Treatment: Treatment plans should be tailored to the individual patient based on their specific symptoms, risk factors, and antibody profile.
Importance of Monitoring: Regular monitoring of anticoagulant therapy is essential to ensure that the blood is adequately thinned to prevent clots, but not so thin as to cause bleeding.
Interaction with other Conditions: APS can occur with other autoimmune diseases, such as lupus. Patients should be evaluated and treated for any associated conditions.