Antiphospholipid Syndrome and Lupus Anticoagulants

Antiphospholipid syndrome, or APS, is a disease that affects blood clotting. This may lead to blood clots forming in the blood vessels. This can cause serious problems, such as thrombosis in the veins (deep vein thrombosis) or in the arteries (arterial thrombosis), a stroke, or a transient ischemic attack (TIA).
Women who have experienced multiple miscarriages or the loss of a child at birth should be more alert to this condition.

20-30% of strokes at a young age (young stroke) appear to be related to antiphospholipid syndrome.

Autoimmune disease

If the body's immune system will make antibodies against endogenous substances, it is called an autoimmune disease.

APS - Antiphospholipid Syndrome

APS, abbreviation of antiphospholipid syndrome, is a disease that causes that antibodies are generated against a component, called phosphor lipids, of the membrane of blood platelets. This results in a shortage of phospholipids that provide a solid vascular wall and which are building blocks of cells in the body.

This deficiency increases the risk of thrombosis. This means a blood clot in the wrong place.

The two major phospholipid antibodies are:

• Anticardiolipin (aCL)

• Lupus anticoagulant (LAC)

• Anti-β2-glycoproteine I (β2-GPI)

Where the presence of antibodies against phospholipids in most people will not cause problems, it may  cause serious problems in others, like thrombosis, cardiovascular diseases, problems in pregnancy (miscarriage and death of the baby during pregnancy).

A cerebral infarction or a TIA may also be caused by such a blood clot.

APS is not a hereditary condition. However, APA (antiphospholipid antibodies/APA) is more common in relatives of patients with APS than in the general population.

Note! An increase of the antibodies against phospholipids may be an innocent, temporary problem, for example after a flu or after an infection.

That is why a blood test that showed an increase of the antibodies against phospholipids is repeated after a few weeks to see whether it is a permanent situation.

Livedo reticularis

In a patient with persistent skin symptoms, such as livedo reticularis, that are not related to cold, it is important to be aware of possible clotting problems, such as antiphospholipid syndrome.

Livedo reticularis is a skin condition characterized by a reticular, bluish discoloration of the skin, usually seen on the legs and arms.
It can have various causes and, in addition to antiphospholipid syndrome, often occurs with a number of medical conditions, such as vasculitis, scleroderma (an autoimmune disease), meningitis, sepsis, and certain medications.

Doesn't this skin abnormality resemble Sneddon's syndrome?

Sneddon's syndrome and antiphospholipid syndrome are both rare conditions that may lead to a stroke and levido-like skin abnormalities result from changes in the blood vessels. Miscarriages have been reported with both conditions. There are differences that the doctor will investigate.

The skin abnormality livedo racemosa is also called livedo reticularis, but is generally more widespread and occurs not only on the legs but also on the trunk and buttocks. It has a different appearance: instead of circles, it appears as irregular, broken segments.

Nowadays, the two terms are often used interchangeably, and livedo reticularis is usually used as the general term. Livedo reticularis is caused by temporary constriction of the blood vessels, while livedo racemosa is caused by persistent blood flow problems due to blockage of small or medium-sized arteries. See images on this Dutch website. 

Treatment

Treatment takes place by providing anti-clotting in order to reduce and / or to prevent the risk of thrombosis and cerebral infarction.

Increased risk of lupus anticoagulant formation

People suffering from the autoimmune disease lupus or SLE (systemic lupus erythematosis), have an increased risk of developing lupus anticoagulant (LAC), one of the antibodies against antfosforlipide.
Cancer and HIV / AIDS, Crohn's disease and the use of certain medications can also be accompanied by formation of LAC.

Ask your doctor, neurologist, vascular expert or a clinical chemist for more information.

Factor V Leiden

There are other hereditary blood clotting disorders, such as factor V Leiden, caused by a mutation in the protein that regulates blood clotting. This may lead to spontaneous thrombosis.

Diagnosis of this condition is made through blood tests or DNA testing for the factor V Leiden mutation.
See also the rare blood disorders page.

More information on Dutch websites:

Patients association NVLE

Website about APS

More information on English websites:

Video : a patient's journal with Antiphospholipid Antibody Syndrome

Lab tests online

Health Guide NYT

Patient.co.uk

Medicinenet

The John Hopkins Lupus Centre

advertising is not ours