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A Rare Disease With Profound Impact: Antiphospholipid Syndrome

In honor of Rare Disease Day, Healthnews takes a closer look at APS — a rare autoimmune disease that affects an estimated one in 2,000 people.

Key takeaways:

What is APS?

Antiphospholipid syndrome (APS), also known as Hughes Syndrome or 'sticky blood,' is an autoimmune disorder in which the body produces antibodies against specific cell membranes and components in the blood. These antibodies can raise the risk of blood clots, strokes, and adverse pregnancy events.

APS can also cause low platelet counts, heart valve problems, and other symptoms, including a blotchy rash called livedo reticularis, skin ulcers, cognitive problems, and neurological symptoms similar to multiple sclerosis (MS). In addition, the syndrome can result in blood clots in the retina (retinal vein occlusion) or microvascular changes in the brain.

Moreover, research suggests that APS is a primary factor in 7% to 25% of recurrent miscarriages.

In its most severe form, APS can cause 'catastrophic APS' — a rare but life-threatening condition characterized by blood clots in multiple organs in the body.

Stella Bard, M.D., a board-certified rheumatologist in McKinney, Texas, told Healthnews, "people with [APS] don't exhibit ALL the symptoms possible with this syndrome. They might have just pregnancy or fetal loss, or thrombosis alone. Atypical symptoms include problems with vision, balance, speech and memory, tingling, fatigue, and headaches."

Although scientists aren’t sure what triggers APS, research suggests that a combination of genetic factors and environmental triggers such as bacteria, viruses, vaccines, drugs, or other factors may play a role.

Diagnosing APS is not always straightforward

APS is a rare disease estimated to affect one in 2,000 people. Therefore, it’s not something physicians routinely test for unless there’s a clinical reason to do so.

However, APS can occur as a standalone condition or accompany other autoimmune diseases like lupus. Therefore, someone with lupus may be more likely to undergo testing and receive an APS diagnosis.

Another challenge with diagnosing APS is that it can be asymptomatic. In fact, the only clue that it exists might be recurrent unexplained miscarriages.

Generally, diagnosing APS involves a series of blood tests looking for at least one of three specific antibodies. These include lupus anticoagulant (LA), anticardiolipin antibody (aCL), and anti-Beta-2-glycoprotein-i antibody (aβ2GPI).

Because these antibodies can be temporarily present for other non-APS-related reasons, healthcare providers usually repeat the blood tests 12 weeks later to ensure the first test is accurate and not just a transient positive.

Even with one or more positive antibody tests, a person must meet other criteria to confirm an APS diagnosis. These include a history of experiencing at least one blood-clotting event in a vein, artery, or small vessel — OR — adverse pregnancy events such as three or more miscarriages before the 10th week of pregnancy, unexplained pregnancy loss beyond the 10th week, or premature births before 34 weeks due to preeclampsia or eclampsia.

However, sometimes, a person may be positive for one or more of the three antiphospholipid antibodies but not meet the other criteria for an APS diagnosis. In this case, they would be considered aPL carriers and may not need treatment.

In contrast, people who are double or triple-positive for the APS antibodies are at higher risk of blood clots and may need treatment to reduce that risk — even if they have not had a previous clotting event or pregnancy loss.

Additionally, having lupus anticoagulant antibodies alone is associated with a higher risk of thrombosis.

How is APS treated?

There is no cure for APS, but physicians can treat it with anticoagulant medication to help prevent pregnancy loss and reduce the risk of blood clots.

For example, some people are treated with 81mg (low dose) aspirin, while others might be treated with warfarin. Also, some research suggests that hydroxychloroquine (Plaquenil) — a drug used to treat lupus — may reduce the risk of blood clots in people with APS.

Bard says that people who have experienced a blood clot are treated “with lifelong blood-thinning medications, aka anticoagulants. If a patient has positive APS Antibodies without a history of blood clots, they are treated with low-dose aspirin for [prevention].”

In addition, Bard says pregnant women with antiphospholipid antibodies or diagnosed APS are usually treated with daily aspirin, heparin, or both if there is a history of blood clots and pregnancy complications.

"Warfarin should not be used during pregnancy because it has a small risk of causing [congenital abnormalities]," she adds.

What's it like to have APS?

Healthnews spoke with Tina Pohlman, a person with APS who is also founder and president of the APS Foundation of America, Inc. (APSFA), to learn more about what it’s like to live with APS.

Although every person’s experience with APS is different, Pohlman says, "For me, it is the fear of clotting, as I have clotted numerous times on anticoagulants, and dealing with the constant blood draws.”

"The disabling chronic fatigue, migraines, and brain fog are the worst. I call it my goldfish memory on bad days," she says. "There are days I seriously could sleep all day if given the opportunity to."

Pohlman says that along with APS, she also has lupus, osteoarthritis, and several other conditions.

"So, there are days I do not know what is causing what or how to make it better," she explains.

Pohlman says that APS can affect every system in the body, so it’s not just a pregnancy issue — it is also a hematologic, neurological, and autoimmune issue.

She also notes that managing blood-thinning medication is one of the biggest challenges of living with APS.

"The gold standard of care for us is warfarin, and fingerstick machines are not accurate in us, per the manufacturers," she says. "While we would love to use direct oral anticoagulants (DOACs), the SDVS, International Congress on APS Antibodies Task Force, ASH, and ISTH are pretty consistent that patients with APS are not optimal candidates [for] DOACs, except under certain circumstances," she notes.

Out of challenges grows a desire to help others

When Pohlman was diagnosed, she found it difficult to find APS information and support. So, she started an online support forum and a website to fill that void.

"The website caught the attention of another non-profit and researchers at various medical facilities across the United States," she explains. "Once it started being recognized, I decided to start our own non-profit organization so it could bring much-needed support and awareness to APS in the United States."

On June 9, 2005, her vision became a reality when the APS Foundation of America, Inc. (APSFA) was officially formed. It was the first non-profit organization solely dedicated to APS awareness, education, and support in the U.S.

"Since then, we have grown by leaps and bounds each year and have been able to help thousands of APS patients and their families not only in the United States but also worldwide," Pohlman says.

What to do if you think you may have APS

Because there is no known way to prevent APS, being aware of the signs and symptoms can help identify the condition earlier so a person can take the steps necessary to avoid serious APS-related complications.

These complications can be life-threatening. Pohlman suggests that if you think you have APS, "ask to be tested, especially if you have a history of multiple miscarriages, thrombosis, strokes [at a young age], and heart attacks, or a history of APS in your family."

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