Antiphospholipid syndrome (APS)

The antibodies at the heart of APS come from an immune system aiming at the wrong target: they are directed at proteins attached to phospholipids on the surface of cells. They shift the balance of the clotting system, so that clots form more readily than they should, and that is why APS most often announces itself through a clot or a pregnancy complication, though some people have day-to-day symptoms as well.

What prompts the immune system to do this is not fully understood. Sometimes the antibodies appear after an infection, sometimes they are a chance finding on a blood test done for another reason, and of the people who carry them only a proportion ever develop the syndrome.

It affects more women than men, and early to middle adult life is often when it appears. Sometimes APS is the only diagnosis; sometimes it accompanies a second autoimmune condition, lupus most of all, or rheumatoid arthritis or a related connective tissue disease.

What brings APS to light is usually one of its consequences, not a symptom felt from day to day. Those consequences may include:

• A clot, in a leg or a lung or elsewhere in the body
• Complications of pregnancy, recurrent miscarriage among them
• In some people, headaches or migraines, memory or balance problems, joint pain, tiredness, or a reddish-blue, lace-like mottling of the skin on the legs or arms
• Where another autoimmune condition is present, the features of that condition too

Two things carry the diagnosis. The first is what has happened to you, clots and pregnancy complications first among them; the second is the blood tests for the antibodies responsible, which need to be present and confirmed on more than one occasion. Add the overlap with other autoimmune conditions, and it is clear why careful specialist assessment is part of reaching the diagnosis.

Treatment has one aim, to lower the risk of clots, and the route to it depends closely on your own history. Where no clot has occurred, the decision is an individual one: low-dose aspirin is often advised when APS came to light through pregnancy complications, and not as a matter of course for someone who carries the antibodies alone; once there has been a clot, the usual treatment, under specialist supervision, is an anticoagulant such as warfarin, or on occasion heparin. Warfarin's effect has to be kept in the right range by regular blood tests, known as INR monitoring, and because the newer direct oral anticoagulants are generally avoided in APS, the choice is talked through with you in full. During pregnancy the usual combination is aspirin with heparin injections, monitored closely, and the care is planned together with the obstetric team. Any autoimmune condition that sits alongside the APS is treated in its own right. You and Dr Borukhson settle the plan together.

Changing how the blood clots, reaching several parts of the body and needing careful planning around pregnancy, APS will often need more than one specialty, haematology and obstetrics among them. Dr Borukhson practises within a world-renowned tertiary centre, with ready access to consultant colleagues in the other specialties this condition may call on. Where it helps, she can bring those specialists in directly, and particularly complex cases can go to a multidisciplinary team meeting (MDT) with minimal delay. Whenever more than one kind of expertise is needed, the strands of your care can be drawn together and decisions reached promptly.

With APS recognised and treatment in place, most people carry on much as before. What is left to you is to cut down whatever adds to the clotting risk and to keep to your monitoring plan.

• Smoking adds considerably to the risk of clotting, so give it up
• Stay active, keep your weight in a healthy range, and on a long trip get up and walk about now and then
• Check with your specialist before starting any new medicine; the combined contraceptive pill and oestrogen-containing hormone therapy are usually avoided, because they add to the clotting risk
• On warfarin, keep the INR appointments and keep your diet steady
• Any pregnancy is best planned with your team before it begins

If you take an anticoagulant, carry its alert card; whatever your treatment, keep something in writing that records your diagnosis. Provided clots are kept at bay and the care is reviewed over the years, the outlook in the long term is generally good, and with the right plan a pregnancy is usually successful.

Day to day, APS is a condition that is kept well in hand; the exceptions are a new clot, a serious infection, a severe allergic reaction to a medicine or bleeding in pregnancy, which can need 999 or A&E, and, on anticoagulation, bleeding, a major accident or a blow to the head, each with its route below.

Treat any of these as a 999 or A&E emergency: call 999 and do not drive yourself to A&E.

• Severe illness with suspected sepsis: a high fever with shaking, confusion, rapid breathing, or feeling dramatically worse over hours
• With a fever or feeling unwell, a rash that does not fade when you press it, a stiff neck with eyes that cannot bear bright light, or skin, lips or tongue turning blue, grey, pale or blotchy, since these can be signs of meningitis or sepsis, though the lace-like mottling of the skin that APS can bring, in its usual pattern, is not what is meant; sepsis is likelier in pregnancy and in the six weeks after a birth, a miscarriage or an abortion; on black or brown skin the rash and the change of colour may be easier to see on the palms of the hands or the soles of the feet
• Breathlessness that is severe, with gasping, choking or no breath to get words out; coughing up blood; or chest pain that catches as you breathe in, since any of these can mean a clot on the lung
• Chest or upper back pain that comes on suddenly, or a heart racing at rest that does not settle, since in APS either can also mean a clot on the lung
• Chest pain that is crushing, tight or like a pressure, that spreads to an arm, the jaw, the neck, the stomach or the back, that comes with breathlessness, sweating, feeling sick or feeling light-headed, or that came on suddenly and does not go away
• Palpitations happening now that do not stop, or that come with chest pain, breathlessness, feeling faint or fainting, since a heart whose muscle or rhythm is affected has to be checked at once
• A blackout, which in APS can mean a clot has reached the lungs
• Sudden weakness or numbness on one side, a drooping face or difficulty speaking, a sudden severe headache, sudden confusion or a seizure, or sudden loss of vision, any of which can be a stroke, even if it stops after a short time, and APS carries that risk even in younger people
• An eye that suddenly and completely loses its sight
• Lips, mouth, throat or tongue that suddenly swell, a throat that feels tight, very fast breathing or a struggle to breathe or to swallow, skin, tongue or lips turning blue, grey or pale (on black or brown skin this may be easier to see on the palms of the hands or the soles of the feet), becoming suddenly very confused, drowsy or dizzy, or fainting and not being able to be woken, since this can be a severe allergic reaction, anaphylaxis, which can follow a dose of any medicine

On anticoagulation, bleeding that will not stop is a 999 or A&E emergency, and so is a major accident, and so is a significant blow to the head if you were knocked out or cannot stay awake, after a fall from a height or a blow at speed, with blood from an ear, with clear fluid from an ear or the nose, with bruising behind an ear, or with any sign of the first list. For any of these, call 999 and do not drive yourself to A&E. Any other significant blow to the head, whether or not it has drawn blood, needs NHS 111 at once.

Any of these needs an assessment that is urgent, on the same day, from your GP, your rheumatology or haematology team, or NHS 111:

• A calf that is swollen, hot or painful, or a limb that is painful, swollen or discoloured, which can mean a clot; with breathlessness, chest pain, palpitations or feeling faint, this is a 999 or A&E emergency: call 999 and do not drive yourself to A&E
• A headache that is new and persistent, or that keeps getting worse, with none of the signs above, since in APS a clot can form in the veins that drain the brain, and migraines that are changing need checking
• Bleeding that is not normal for you on anticoagulation: blood in the urine or stools, black tarry stools, or bruising that is severe, which needs attention without waiting, through NHS 111 or at A&E
• New chest pain, new palpitations, or breathlessness that is new or getting worse, since the signs of a clot on the lung depend on its size, and a small one can give little warning; palpitations happening now that do not stop, or that come with chest pain, breathlessness, feeling faint or fainting, belong to the first list; in pregnancy, breathlessness that comes on suddenly, or when you lie down, or with dizziness, is for your midwife or maternity unit straight away, as the pregnancy line below says
• In pregnancy, any bleeding, stomach pain that is severe or does not go away after a rest, reduced baby movements, a severe headache or visual disturbance, sudden swelling of the face, hands, legs or feet, or breathlessness that comes on suddenly, or when you lie down, or with dizziness: contact your midwife or maternity unit straight away, whatever the time; bleeding that is heavy, or that comes with severe pain in the tummy, pain in the shoulder, or feeling sick, faint or dizzy, or passing out, is a 999 or A&E emergency: call 999 and do not drive yourself to A&E
• A high temperature in pregnancy, whatever medicines you are taking, since a fever can be a sign of an infection that needs checking; your midwife or maternity unit can advise

New minor symptoms, bruising a little more easily than before while on anticoagulation, and any new medicine you are about to start all go to a routine review. If you cannot tell how urgent something is, asking is never a mistake.

APS is a condition that matters, and once recognised a very manageable one; what it asks for is an accurate diagnosis and a plan that fits your own circumstances, most of all around pregnancy or after a clot. A clot with no explanation, miscarriage that has recurred, or an antibody test that came back positive: any of these justifies a specialist review to establish whether APS is present and what should happen next.

How is APS diagnosed?

From your history and your blood, read together. The history means any clot or pregnancy complication; the blood tests look for the antibodies responsible, and those have to be found on more than one occasion. APS can also sit alongside conditions such as lupus, so the diagnosis is one for careful specialist assessment, never for a single test on its own.

Can APS be cured, or does it ever go away?

Neither. APS does not go away, but once it has been recognised it is a very manageable condition: the treatment exists to prevent clots and to see that any pregnancy is planned with care, and with that treatment and its monitoring in place most people do well. What the plan looks like depends on your own history, and it is revisited at each review.

My antibody test came back positive. Do I have APS?

Not necessarily. One positive result is a single piece of the picture: a single positive test is repeated after an interval, and APS is diagnosed only when the antibodies are still there, and the result is always read against your history, any clot or pregnancy complication in particular. That is why a specialist review is worthwhile, to establish whether APS is really there.

How serious is APS, and will other specialists be involved?

APS deserves to be taken seriously: it alters how the blood clots, it can involve several parts of the body, and pregnancy needs careful planning. Recognised and treated, though, it responds well. Haematology and obstetrics are often part of the care, and it needs one person to coordinate it. Dr Borukhson's tertiary-centre base means the specialists a case calls for are within easy reach, so the right people can be brought in promptly and the care kept in one piece.