Antiphospholipid Syndrome

Antiphospholipid syndrome (APS), also known as Hughes syndrome, is a systemic autoimmune disorder characterized by the frequent formation of blood clots in the blood vessels due to the presence of certain antibodies in the bloodstream. These clots block blood flow and can affect any organ, leading to potentially fatal consequences.

Depending on its association with other conditions, APS is classified as:

• Primary antiphospholipid syndrome: No underlying condition is present.
• Secondary antiphospholipid syndrome: Coexists with an autoimmune disease, usually systemic lupus erythematosus.

In very rare cases, clots form repeatedly and extensively in small blood vessels that supply multiple organs, causing severe damage due to the interruption of blood flow. This is known as catastrophic antiphospholipid syndrome, which has a high mortality rate even with treatment.

Symptoms

Thrombosis caused by antiphospholipid syndrome can present with the following symptoms:

• Fatigue.
• Pain, swelling, and redness in the limbs.
• Livedo reticularis: A pinkish or bluish mottled discoloration, often seen on the legs.
• Pregnancy complications: If a clot reaches the placenta and interrupts blood flow to the fetus, it may cause recurrent miscarriages, preeclampsia, intrauterine fetal death, or preterm birth (in this case, it is referred to as obstetric antiphospholipid syndrome).
• Migraine, dementia, or seizures if the clot blocks blood flow to the brain.
• Bleeding in the nose, gums, and skin due to a decrease in platelet count. On the skin, this appears as small red spots.

Causes

Antiphospholipid syndrome occurs due to an abnormal immune response in which the body produces antiphospholipid antibodies that attack phospholipids—molecules essential for the blood clotting process. These antibodies disrupt clotting, leading to increased clot formation.

The trigger for this immune reaction is unknown, although it has been linked to genetic predisposition and the presence of infections or certain diseases such as systemic lupus erythematosus, rheumatoid arthritis, or systemic sclerosis.

Risk Factors

If antiphospholipid antibodies are present, the likelihood of developing thrombosis increases under the following conditions:

• Sex: It is much more common in women of childbearing age.
• Pregnancy, overweight, or obesity: These conditions increase pressure in the veins of the pelvis and legs.
• Smoking: Smoking affects blood flow and clotting.
• Prolonged periods of immobility: Slows down circulation.
• High blood pressure.
• Diabetes.
• Autoimmune disorders.
• Use of hormonal contraceptives: Estrogens promote clotting.
• Surgery: Anesthesia and immobilization during and after the procedure slow circulation.
• High cholesterol and triglyceride levels, which can lead to artery blockage.

Complications

In addition to the pregnancy-related complications mentioned above, antiphospholipid syndrome can cause other serious consequences in the body, depending on the organs affected by the clots:

• If clots obstruct blood flow to the brain, a stroke may occur, potentially leading to permanent neurological damage.
• If a clot travels to the pulmonary artery, it can cause a pulmonary embolism.
• If the clot blocks blood flow to the kidneys, it may result in kidney failure.
• Catastrophic antiphospholipid syndrome, in particular, causes multiple organ failure and can be fatal.

Prevention

The formation of clots can be prevented by adopting a healthy lifestyle:

• Engaging in regular physical activity.
• Maintaining a healthy weight.
• Following a balanced diet.
• Avoiding smoking.

What Doctor Treats Antiphospholipid Syndrome?

Antiphospholipid syndrome is diagnosed in rheumatology or pediatric rheumatology consultations. However, treatment may also require specialists in vascular medicine, gynecology, and obstetrics.