What is Antiphospholipid Antibody Syndrome?

Antiphospholipid Antibody Syndrome (APAS), is an autoimmune condition. It’s also called “Hughes’ Syndrome,” after Graham Hughes who led the team that discovered it in 1983.

An autoimmune condition is when the immune system, which normally helps the body fight diseases and infections, instead attacks healthy cells and tissues. It is not exactly known why the body produces antibodies against itself, but in the case of APAS, the immune system produces antibodies that attack “phospholipids”– molecules that are the major component of cell membranes and the linings of our blood vessels.

Phospholipids are very important because they maintain cellular integrity, regulating the substances that go in and out of cells. And, more relevant to APAS, phospholipids play a role in the formation of blood clots.

The primary concern for people suffering from APAS are the unwanted blot clots (thrombosis) that develops in various parts of the body. Normally, blood clots are beneficial. For example, they stop bleeding in case of a wound or a break in the blood vessels. The clot quickly forms a “plug”—a fibrous barrier that prevents continued blood loss as well as prevent foreign objects from entering the blood stream.

Blood clots perform a valuable but temporary function. After healing has taken place, they are immediately and automatically dissolved.

For people with APAS, there’s abnormal blood coagulation and blood clots appear where they are not needed. These can be potentially dangerous because clots, especially large ones, can reduce even block blood flow to areas and organs that require constant supply. In addition, continually existing blood clots can move from their point of origin, travel through the blood stream and cause blockage elsewhere.

Women are 3-5 times more likely to be affected with APAS, according to UK’s National Health Service. According to the U.S. National Library of Medicine, 70% of those affected by APAS are women. There are no exact numbers as to its prevalence in the Philippines, but a PGH retrospective study of patients diagnosed with APAS from 2001-2006 support the idea that women are more prone to the condition than men. (Of the 122 cases studied, 95.5% of them are women. The average age for diagnosis is 31.)

In very rare cases, blot clots rapidly form in different parts of the body, causing multiple organ failure. This condition is known as “Catastrophic Antiphospholipid Syndrome” (CAPAS).

Signs, Symptoms and Complications

People with APAS experience many of the following symptoms:

• Low platelet count

• Tingling sensation in the arms and legs

• Recurring headache or migraines

• Temporary blurred vision and double vision

• Memory problems

• Sudden onset speech problems

• Extreme fatigue

• Chest pains and shortness of breath

• Difficulty with general movement and balance

• Rashes (livedo reticularis)

The size, location and severity of blood clots in the different parts of the body could also lead to a couple of complications. Suffering the following conditions may point to APAS as an underlying issue:

Stroke

A stroke happens when a blood clot significantly reduces or cuts off blood flow to specific parts of the brain. Hearts have “heart attacks.” A stroke is considered a “brain attack.” When it happens especially to a young person, the possibility of APAS may be worth looking into.

Heart Attack

A heart attack is when one of the heart’s arteries is completely blocked, starving it of blood supply. A heart attack doesn’t automatically point to APAS, but it is one of those things that happen when a clot interferes in the constant and smooth flow of blood into different parts of the body.

Deep Vein Thrombosis (DVT)

DVTs are blood clots that often occur in the deep veins of the lower legs or thighs. The area of blockage may experience pain, swelling, warmth to the touch, redness or even discoloration. DVTs are doubly dangerous because the clot can travel from the legs to the lungs, blocking a vital blood vessel and causing something called “pulmonary embolism.”

Miscarriages

APAS has also been linked to a host of pregnancy complications like miscarriages, stillbirths, premature delivery and preeclampsia (a condition characterized by high blood pressure and existence of protein in the urine).

Miscarriages do have many causes. It is estimated that 10-15% of recurrent miscarriages can be attributed to APAS. Researchers believe that APAS-related miscarriage is due to some blockage that limits the blood supply to the placenta, causing pregnancy complications and eventually fetal loss.

The problem with APAS is that its symptoms can easily be mistaken for other diseases. Complications arising from it are so varied, other conditions have to be ruled out first before APAS is suspected.

APAS is also concomitant with other autoimmune diseases like lupus. It is believed that 10-15% of systemic lupus erythematosus (SLE) patients also have the disease.

What’s more, APAS can be completely asymptomatic. A person carrying antiphospholipid antibodies may not even present any problems. Properly diagnosing APAS is like detective work and involves the help of a competent health specialist, an accurate medical history and a fair amount of blood testing and retesting.

Diagnosis and Tests

In order to diagnose APAS, one needs:

1. A health specialist

Hematologists (doctors who specialize in the science and study of blood) and immunologists (doctors who treat autoimmune diseases) are in the best position to diagnose APAS.

2. An accurate medical history

An accurate medical history will help your health specialist diagnose the condition. For example, he or she might look for illnesses and conditions that suggest or are often concomitant with it—like heart attacks, strokes etc. Based on a patient’s medical records, he or she might then request for blood tests.

3. Blood tests

These tests will be looking for 3 specific APAS antibodies:

• Anticardiolipin

• Beta-2 glycoprotein 1

• Lupus anticoagulant

A positive result in any or all of these antibodies does not automatically mean the patient has APAS. Their presence may indicate that the body is dealing with a short-term infection or as a side-effect of medication. A confirmatory test needs to be taken at least 3 months after the first one to prove the antibodies’ continued presence in the blood.

Treatment Options

As of the moment, there is no known cure for Antiphospholipid Antibody Syndrome. There are, however, medicines that can be taken to manage the condition and keep APAS in check.

The objectives are:

1. To prevent the formation of unwanted blood clots; and

2. To keep existing ones from getting bigger.

“Anticoagulants” or “blood thinners” are used exactly for this purpose. They inhibit the clotting process so there are no disruptions in the smooth flow of blood around the body.

Warfarin, aspirin and heparin are the most common prescriptions for APAS. Warfarin and aspirin are in pill or tablet form, while heparin is often administered via an injection or an IV tube, and is considered the most fast-acting of the three.

Pregnant women with APAS may be given heparin and aspirin, but not warfarin because it could pose risk to the fetus. With proper care, mothers with APAS have an 80% chance of successful pregnancies.

Proper health management can help APAS patients live normal and healthy lives. Treatment plans often include regular complete blood counts to keep an eye on things like platelet and red blood cell levels.

A side effect of “blood thinners” is that blood clots may not immediately form in places and during times when they are actually needed. A simple injury could lead to serious bleeding. Therefore, a doctor needs to determine the ideal doses to keep a patient’s blood chemistry in proper balance.

In addition to conducting routine blood tests, BloodWorks Lab offers immunological tests like those used to diagnose Antiphospholipid Antibody Syndrome (APAS).

We are proud to be the first laboratory in the Philippines to also offer neurological tests like the Anti NMDA Receptor Antibody Test and the Anti Acetylcholine Receptor (lgG) Antibody Test.

BloodWorks Lab is your one-stop shop for all your blood test needs. Our branches are in Alabang and Katipunan.