Hughes (antiphospholipid antibody) Sy... - LUpus Patients Un...

LUpus Patients Understanding and Support

3,239 members1,068 posts

Hughes (antiphospholipid antibody) Syndrome, also known as "sticky blood".

lupus-support1 profile image
lupus-support1Administrator

Hughes (antiphospholipid antibody) Syndrome, also known as "sticky blood" is named after Professor Dr Graham RV Hughes, formerly at St Thomas' Hospital Lupus Clinic and now at the London Bridge Hospital. Dr Hughes first described this syndrome in 1983.

Hughes syndrome is an autoimmune disease which affects the blood and its ability to clot. An overactive immune system produces antiphospholipid antibodies (aPL) which cause the blood to clot too quickly both in veins and arteries. The clotting can affect any vein, artery or organ in the body and the consequences can include potentially fatal conditions such as heart attacks, strokes, and DVT. In pregnancy, the antibodies can cause miscarriage, pre-eclampsia, small babies, early deliveries and stillbirth. This is because the "sticky blood" does not carry sufficient oxygen around the body to vital organs such as the brain or the placenta, in pregnancy. Hughes syndrome can present a wide variety of symptoms, not all of them as serious as stroke or heart attack, foe example, headaches and depression.

Hughes syndrome, tends to affect the 20-50 year old age group and women more so than men. In the UK alone, it is estimated that Hughes syndrome affects 1 in 100 people. Sometimes, Hughes Syndrome is mistaken for other conditions such as Multiple Sclerosis.

There are two main types of Hughes syndrome:

Primary antiphospholipid syndrome - the condition is not linked to any other disease and develops in isolation.

Secondary antiphospholipid syndrome - the condition develops along with another autoimmune disorder, usually lupus.

Hughes syndrome is both potentially preventable and treatable if recognised in time; however, as the condition is relatively new in medical terms, much more research is needed until we can learn more about the causes, effects and treatments.

Currently, there are many names for Hughes syndrome including the antiphospholipid syndrome (APS, APLA or APLS); primary antiphospholipid syndrome (PAPS), the antiphospholipid antibody syndrome (AAS); the lupus anticoagulant syndrome (LAS); the antiphospholipid lupus anticoagulant syndrome (APLAS); the anticardiolipin antibody syndrome (ACAS) and ‘sticky blood’.

NB: the lupus anticoagulation syndrome/test is NOT a test for lupus (SLE). It is a complicated clotting disorder and test. Its name is confusing for both doctors and patients who may think this is a test for SLE, or anticoagulation, which is not the case!

SYMPTOMS

These are varied and many. Diagnosis is not dependent on whether someone has all the symptoms. Some symptoms are very serious; others are milder.

The typical low-grade symptoms of Hughes syndrome include:

headache and migraine

memory problems

dizziness and balance difficulties

visual disturbances

blotchy skin (livedo reticularis)

arthralgia

fatigue

Common acute conditions caused by Hughes syndrome include:

thrombosis – DVT

strokes and mini-strokes or TIAs (Transient Ischaemic Attacks)

heart attacks

pulmonary embolism (blood clot on the lung)

miscarriage

Any organ can be affected. Consequently, the brain, eyes, ears, lungs, heart, kidneys, liver, bowel, skin, nails, bones and joints can potentially all be affected. The brain is particularly susceptible in Hughes syndrome patients, as the ‘sticky blood’ can impair circulation and limit oxygen which can result in a variety of low-grade neurological symptoms.

BLOOD TESTS

There are three main blood tests used to diagnose Hughes syndrome and they are all looking for antiphospholipid antibodies (aPL):

Anticardiolipin antibodies (aCL)

Lupus anticoagulant (LA)

Anti-beta2-glycoprotein-1 (anti-B2GP1)

The result of the blood clotting lupus anticoagulant test is either negative or positive, while the results of the other two specific antibody tests are given in figures.

The reason for the three tests is that they measure aPL in different ways so around 20% of people with Hughes syndrome will have a NEGATIVE result in one test or the other. This means that ONE TEST ALONE COULD MISS A DIAGNOSIS!

It is usually advisable to repeat the blood tests as one positive test for aPL does not necessarily mean that a person has Hughes syndrome. Sometimes, aPL can be briefly detected in the blood as a result of infections such as chickenpox, and certain drugs including antibiotics and some blood pressure tablets. For this reason, the TEST SHOULD BE REPEATED AFTER 6-12 WEEKS. If someone has only one positive test and it quickly becomes negative again, then it is unlikely they have Hughes syndrome.

DIAGNOSIS

Hughes Syndrome is diagnosed as a result of symptoms and blood tests. If you are under 50 and have suffered a thrombosis causing a deep vein thrombosis (DVT) or a pulmonary embolism (PE), or have had a transient ischemic attack (TIA), stroke or heart attack, particularly more than once, or have had MORE THAN ONE MISCARRIAGE or late pregnancy loss you should discuss with your doctor whether you need the blood tests.

Currently, screening for antiphospholipid antibodies (aPL) is not automatically carried out on people who have young (aged under 50) strokes, DVTs or heart attacks and women have to go through three consecutive miscarriages before they are tested. This must be changed. It is important to let your doctor know about any previous clotting or pregnancy problems and also less specific clues such as headaches, migraine, visual disturbances, memory loss, dizziness and confusion. Family history will also help your doctor reach a diagnosis, so remember to list any immediate family with an autoimmune disease or history of thrombosis.

For more information, see the website for Hughes Syndrome Foundation: hughes-syndrome.org