Antiphospholipid Antibody Syndrome or Hughes Syndrome

Antiphospholipid Antibody Syndrome (APS) or Hughes Syndrome

Description

Antiphospholipid Antibody Syndrome (APS) is an autoimmune disease. Antibodies which are found in the blood and normally fight off infections, are instead turning against the body’s own normal clotting mechanisms.

History

In 1983 Dr Graham Hughes described a condition often known as “sticky blood”, in which there was a danger of thrombosis (clotting). Dr Hughes named the syndrome antiphospholipid syndrome (or APS), re-named ‘Hughes Syndrome’ in the mid 1990’s.
Dr Hughes discovered the condition while treating patients with lupus. He noted that some of his lupus patients had problems with blood clots, headaches, strokes, and recurrent miscarriages. In the vast majority of patients the Syndrome occurred without lupus. When the syndrome occurs without another disease such as Lupus, it is referred to as ‘Primary Antiphospholipid Syndrome’ (PAPS). For patients where the clotting tendency is secondary to another disease such as lupus, the condition is often called ‘Secondary Anitphospholipid Syndrome’.

The majority of patients with ‘Primary’ APS (Hughes Syndrome) do NOT go on to develop lupus in later life.

Effects of Antiphospholipid Antibody Syndrome

Deep Vein Thrombosis (DVT) – Clots in deep veins in the arms and legs.

Pulmonary Embolism (PE) – Clots in lungs.

Arterial Thrombosis – Clots form in arteries which cause heart attacks or strokes.

Recurrent Miscarriages – During pregnancy, “sticky blood” is unable to get through sensitive small blood vessels in the placenta to the fetus often resulting in recurrent pregnancy loss.

Migraine Headaches

Movement disorders

Spinal cord lesions

Organ thrombosis including brain, heart, kidney, liver and lung

Occasional abnormalities in blood platelet count

Giddiness

Memory loss

Visual disturbance

Skin disorders

Multiple Sclerosis-like features

Gastrointestinal disorders

Diagnosis

Physicians use a combination of clinical symptoms, such as blood clots, and specific laboratory tests to diagnose the presence of APS. Laboratory studies used in the diagnosis of APS include tests for lupus anticoagulants and anticardiolipin antibodies. Although many patients with APS have lupus, most patients don’t.

Treatment

Primary treatment for patients with APS who have had a blood clot is anticoagulant therapy (‘blood thinner’). For women with APS and recurrent miscarriages who have not had a prior blood clot, the use of anticoagulant therapy during the pregnancy may increase the likelihood of a successful outcome.

Some individuals may have elevated antiphospholipid antibodies but have no clinical manifestations of the syndrome. These individuals do not need anticoagulant therapy, but studies are ongoing to evaluate whether an aspirin a day might be beneficial for these individuals.

Catastrophic Antiphospholipid Syndrome

This is the most feared complication of Hughes Syndrome. Fortunately is it extremely rare – but when it occurs it is an “all stops out” medical emergency. The most commonly cited scenario is an individual with antiphospholipid antibodies who appears to be well – often on no treatment – who suddenly starts to develop widespread clots. The clots involve any or all of the vital organs – the lungs, the liver, the adrenals, the brain.

The triggering factor(s) for this ‘gear-change’ is unknown, though in a number of patients an infection such as a virus, sore throat or chest infection seems to start the process. Another rare cause is the stopping of anticoagulant treatment.

How common is the Syndrome?

In the world of obstetrics, Hughes Syndrome is now recognized as the most common treatable cause of recurrent miscarriage.

From the world literature to date, a rough “1 in 5” rule applies: Hughes Syndrome accounts for approximately:

* 1 in 5 Deep Vein Thrombosis (‘DVTs’)
* 1 in 5 young strokes (under 45)
* 1 in 5 recurrent miscarriages

Add to that the as-yet unknown number of migraine, Alzheimer’s and Multiple Sclerosis sufferers who actually have Hughes Syndrome, then the prevalence figure in the population could be as high as 1 in 500 individuals.

Resources

My primary resource for this page is my own experience. I’ve dealt with this condition since the late 90’s when my wife was ‘eventually’ diagnosed with the syndrome.

Here are links to some online resources that I used to create this page:
Rare Diseases Network
Hughes Syndrome Foundation


Beating Recurrent Miscarriages caused by Antiphospholipid Antibody Syndrome

Victoria Lambert

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