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5 Things You Should Know About Antiphospholipid Syndrome or Hughes Syndrome

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Hughes syndrome is also known as antiphospholipid syndrome (APS) and is characterized by the increased likelihood of forming blood clots (thromboses). While blood clots can be found in any blood vessel throughout the body they most commonly occur in the lower limbs, lungs and brain. If a blood clot forms in the brain it can lead to stroke.

APS may occur as an autoimmune disorder of its own or may occur in conjunction with another autoimmune disorder like lupus. In this case it is known as secondary antiphospholipid syndrome.

Hughes syndrome affects both men and women but women seem to be disproportionately represented in the patient population. Recurrent miscarriages are a sign of the syndrome and some estimates say that 1 in 5 cases of recurrent miscarriage could be due to APS.

Here are five things you should know about this rare disease:

1. The cause of antiphospholipid syndrome is still unknown.

Researchers are still working to understand what drives the mechanism of Hughes syndrome. Antibodies normally protect the body against bacteria and viruses but in the case of APS the immune system produces antibodies that increase the likelihood of clotting. Though it is not passed down through families genetically there is an increased possibility of having the condition if a family member also has it. Some people with APS also have a gene mutation that has been indicated as relevant in other autoimmune conditions, like lupus. It is thought that this gene may have some part in the development of APS concurrent with other autoimmune disorders.

Some environmental factors have been noted as possible triggers for Hughes syndrome. Viral infections like cytomegalovirus or parvovirus B19, and bacterial infections like E. coli and leptospirosis have been traced to the condition. Medications including oral contraceptives and anti-epileptic drugs have also been indicated as possible risks for APS. Some people may carry abnormal APS antibodies but only develop Hughes syndrome if it’s triggered by an environmental factor.

2. The most common symptom is blood clots.

Symptoms of Hughes syndrome are varied but the most common is blood clots, particularly in the legs which is known as deep vein thrombosis. Look for pain or tenderness, swelling or redness in the legs as signs of a clot. Other symptoms may include:

  • Multiple miscarriages or stillbirths
  • Stroke, particularly in a young person with no known risk factors
  • Transient ischemic attack (TIA). Similar to a stroke but lasting a short time and leaving no long-term damage
  • Red, lacy rash

3. See a doctor if you have unexplained bleeding.

If you have bleeding from your nose or gums that can’t be explained, an unusually heavy period, vomit that is bright red or looks like coffee grounds, black tarry stool or bright red stool, or unexplained abdominal pain, your doctor may diagnose Hughes syndrome, according to the Mayo Clinic. Other things to watch out for are blood clots, particularly in the legs, which present with pain, swelling and redness.

At the doctor’s office they will do a thorough clinical evaluation including blood tests to look for antiphospholipid antibodies. Tests may need to be repeated to confirm a diagnosis of APS because the antibodies can be present in the body for short times for other reasons.

4. Treatment aims to prevent blood clots.

If an individual does not have APS symptoms, they may require no treatment but they may also be put on preventative treatment to forestall the formation of blood clots. For many patients a simple daily aspirin to thin the blood is all that is required.

For patients with a history of blood clots, treatment may be started with anticoagulant mediations like heparin and warfarin. Lifestyle modifications to prevent blood clots could be encouraged such as avoiding smoking, stopping oral contraceptives and lowering blood pressure.

5. There are others who live with Hughes syndrome.

If you or a loved one has been diagnosed with Hughes syndrome it can be overwhelming. But you are not alone. Because this is such a rare condition, you may need to do a little extra resource to find a doctor familiar with the condition to get a diagnosis. For further information you can turn to national websites like these:

Header image via ChesiireCat/Getty Images

Originally published: September 10, 2020
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