Antiphospholipid syndrome

Antiphospholipid syndrome

Definition  :

Antiphospholipid syndrome is a disorder in which your immune system mistakenly produces antibodies against certain normal proteins in your blood. Antiphospholipid syndrome can cause blood clots to form within your arteries or veins as well as pregnancy complications, such as miscarriages and stillbirths.

Antiphospholipid syndrome may lead to the formation of blood clots in your legs, a condition known as deep vein thrombosis (DVT). Antiphospholipid syndrome may also cause blood clots to form in organs, such as your kidneys or lungs. Damage depends on the extent and location of the clot. For instance, a clot in your brain can cause stroke.

There's no cure for antiphospholipid syndrome, but medications can be effective in reducing your risk of blood clots.

Symptoms:

Signs and symptoms of antiphospholipid syndrome may include:

• Blood clots in your legs (deep vein thrombosis, or DVT) that may travel to your lungs (pulmonary embolism)
• Repeated miscarriages or stillbirths and other complications of pregnancy, such as premature delivery and high blood pressure during pregnancy (preeclampsia)
• Stroke

Other less common signs and symptoms include:

• Neurological symptoms. Chronic headaches, including migraines, dementia and seizures are possible when a blood clot blocks blood flow to parts of your brain.
• Rash. Some people develop a red rash with a lacy, net-like pattern (livedo reticularis) on their wrists and knees.
• Cardiovascular disease. Heart valve problems are common among people with antiphospholipid syndrome. Heart valves open and close to keep blood flowing through your heart's four chambers in only one direction. Typically, the mitral valve — the valve between your heart's upper left and lower left chambers — develops masses or thickens, which can cause blood to leak backward through it (regurgitation). The aortic valve — the valve between your heart's lower left chamber and aorta — also may be affected.
• Bleeding. Some people experience a decrease in platelets, blood cells necessary for normal clotting. If you have this condition (thrombocytopenia), you may have few or no symptoms. However, if your platelet count drops too low, you may have episodes of bleeding, particularly from your nose and gums. You can also bleed into your skin, which will appear as patches of small, red spots (petechiae).

Infrequent signs and symptoms include:

• Movement disorder, in which your body and limbs jerk uncontrollably (chorea)
• Cognitive problems, such as poor memory
• Sudden hearing loss
• Mental health problems, such as depression or psychosis

When to see a doctor
If you already have an autoimmune condition, talk to your doctor about whether you should be tested for antiphospholipid antibodies.
Other reasons to contact your doctor include:

• Pain or swelling in your leg or arm. See your doctor especially if your vein is red, swollen or tender. Seek emergency care if vein swelling and pain are severe or are accompanied by a high fever or shortness of breath, which could indicate DVT and an increased chance of a blood clot traveling to your lungs (pulmonary embolism).
• Vaginal spotting or bleeding during the first 20 weeks of your pregnancy. This may be a sign of miscarriage. However, many women spot or bleed without miscarrying. If you've had repeated pregnancy losses or unexplained severe complications of pregnancy, it could be related to antiphospholipid syndrome. Talk to your doctor about whether testing would be right for you.

If you have antiphospholipid syndrome and you're thinking of attempting pregnancy, treatments are available during your pregnancy. But be sure to seek the care of an expert obstetrical provider to discuss your options.

When it's an emergency
Seek emergency care if you have certain other serious signs and symptoms. Look for:

• Signs and symptoms of stroke. These include sudden numbness, weakness or paralysis of your face, arm or leg; sudden difficulty speaking or understanding speech; sudden visual disturbances; sudden, severe headache; and dizziness.
• Signs and symptoms of pulmonary embolism. These include sudden shortness of breath, chest pain and coughing up blood-streaked sputum.
• Signs and symptoms of deep vein thrombosis. These include the development of leg swelling or pain.

Causes:

The role of phospholipids
In antiphospholipid syndrome, your body mistakenly produces antibodies against proteins that bind phospholipids, a type of fat present in your blood that plays a key role in clotting (coagulation). Antibodies are specialized proteins that normally attack body invaders, such as viruses and bacteria. When antibodies attack your phospholipid-binding proteins, your blood may clot abnormally.

Classifications
There are two main classifications of antiphospholipid syndrome:

• Primary. If you have no other autoimmune disorder, such as systemic lupus erythematosus (SLE), you have primary antiphospholipid syndrome.
• Secondary. If you do have lupus or another autoimmune disorder, your antiphospholipid syndrome is secondary.

With secondary antiphospholipid syndrome, the cause is considered to be your lupus or other autoimmune disorder.

The cause of primary antiphospholipid syndrome is unknown. However, some factors are associated with developing antiphospholipid antibodies — though not necessarily developing the syndrome. They include:

• Infections. People with syphilis, HIV infection, hepatitis C and malaria, among others, have a higher incidence of having antiphospholipid antibodies.
• Medications. Taking certain drugs, such as the high blood pressure medication hydralazine, the heart rhythm-regulating medication quinidine, the anti-seizure medication phenytoin (Dilantin) and the antibiotic amoxicillin may lead to an increased risk.
• Genetic predispositions. Although the disorder isn't considered hereditary, research indicates that relatives of people with antiphospholipid syndrome are more likely to have the antibodies.

Complications  :

Depending on which organ is affected by a blood clot and how severe the obstruction of blood flow to that organ is, untreated antiphospholipid syndrome can lead to permanent damage or death. Complications may include:

• Kidney failure. This can result from decreased blood flow to your kidneys.
• Stroke. Decreased blood flow to a part of your brain can cause a stroke, which can result in permanent neurological damage, such as partial paralysis and loss of speech (aphasia).
• Cardiovascular problems. If a clot forms in your leg (deep vein thrombosis), the clot can damage the valves in the veins in your affected leg, which normally serve to keep the blood flowing upward to your heart. This may result in a condition called chronic venous insufficiency, which causes chronic swelling and discoloration in your lower legs, because of the impaired blood flow upward to your heart. Another possible complication is heart damage.
• Lung problems. Complications related to your lungs may include high blood pressure in your lungs (pulmonary hypertension) and pulmonary embolism.
• Pregnancy complications. These may include miscarriages, stillbirths, premature delivery and high blood pressure during pregnancy (preeclampsia).

Treatments and drugs:

Doctors generally use medications that reduce your blood's tendency to clot to treat antiphospholipid syndrome.

Standard initial treatment
If you have thrombosis, standard initial treatment initially involves a combination of anticoagulant (blood-thinning) medications.

• Heparin. Typically, you'll first be given a shot or infusion of the blood thinner heparin, combined with another blood thinner in pill form, likely warfarin (Coumadin).
• Warfarin. After several days of combined heparin and warfarin, your doctor will discontinue the heparin and continue the warfarin, possibly for the rest of your life.
• Aspirin. In some cases, your doctor may recommend adding low-dose aspirin to your treatment plan.

Treatment during pregnancy
Anticoagulation therapy is particularly complex during pregnancy. The therapy is expensive, requires regular injections and carries some significant risks of side effects.

• Heparin. Some forms of heparin — enoxaparin (Lovenox) and dalteparin (Fragmin) — are known as low molecular weight heparin, which you can inject yourself under your skin (subcutaneously). Heparin is considered safe to take during pregnancy.
• Aspirin. Along with heparin, your doctor may recommend taking one tablet of aspirin daily throughout your pregnancy to increase your chances of a successful pregnancy.

Rarely, warfarin can cause birth defects, so it isn't usually recommended during pregnancy. Rarely, a doctor may prescribe warfarin during pregnancy, but only if the benefits of using it outweigh the risks.
Though anticoagulation therapy during pregnancy may be complicated, the good news is that it usually prevents antiphospholipid syndrome-related miscarriages.

If you're taking anticoagulant medication, your doctor will monitor your dosage with blood tests to be sure your blood is capable of clotting enough to stop your bleeding if you bruise or cut yourself.