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Hughes Syndrome Diagnosis

General Features

The diagnosis depends on the history, the examination, and special tests. The doctor will ask about clotting problems in the past (any history of clots in the leg or lung), previous strokes or heart attacks (and whether they occurred at young ages), or less specific clues such as headaches, migraine, memory loss, and confusion. Women will be questioned about past pregnancies, and whether there were any complications. They will be asked specifically about any miscarriages, and at what stage of pregnancy they occurred.

Scans showing poor blood flow in the brain
Scans showing poor blood flow in the brain in a patient with untreated Hughes' Syndrome.

A lacy, net-like, red rash known as 'livedo reticularis' (some patients call this "corn beef skin"), is often found in antiphospholipid syndrome, particularly over the wrists and knees. A simple blood test can detect 'antiphospholipid antibodies'. Other blood tests can check for underlying conditions, such as lupus. The doctor may also assess other risk factors for thrombosis - by measuring the patients blood pressure to rule out hypertension, checking their glucose levels to rule out diabetes and measuring cholesterol levels.

"Livedo reticularis" - the characteristic mottled appearance of skin seen in many patients with Hughes' Syndrome.
"Livedo reticularis" - the characteristic mottled appearance of skin seen in many patients with Hughes' Syndrome.

Hughes Syndrome - Blood tests explained

Laboratory tests are important for the diagnosis and should be considered in all patients with ‘unexplained’ thrombosis. The blood tests for Hughes Syndrome have complicated names but are essentially simple and universally available through your doctor/GP. There are two tests – anticardiolipin antibodies and the confusingly named Lupus anticoagulant.

Hughes Syndrome - Screening tests

Anticardiolipin Antibodies (aCL)
Test
  • Sometimes referred to as Antiphospholipid
  • Positive in 80% of cases
  • Higher Levels = Higher risk of Thrombosis
Lupus Anticoagulant (LA) **
Test
  • Positive in 30-40% of cases
  • Cannot be used if patient is on warfarin
Beta2GP1
Test
  • This is a newer test, not routinely performed, but occasionally positivite when the above two tests are negative

** The confusing term ‘Lupus anticoagulant’ should be done away with. It is NOT a test for Lupus and is NOT an anti coagulant. But it is a historical term, and so far has stuck. Confusion is added to by the variety of clotting tests used in different laboratories with abbreviations including KCT, KCCT, DRVVT and so on. A topic best left to the haematologists.

Of these two tests, the first is far more important and more frequently positive - but because nature can be awkward, some patients have only one or other test positive - hence the need to test for both. Having said this, we do see some patients who appear to have Hughes Syndrome in whom both tests are negative.

It is usually advisable to repeat the blood tests on more than one occasion - especially if the results are 'borderline' or 'doubtful'. One positive test for antiphospholipid antibodies does not mean that a person has Hughes Syndrome. For this reason, the test should be repeated after 6-8 weeks. 

In making the diagnosis, the patients history is often more important than the actual test results - for example, a 40 year old with a DVT and lung clot may not link it with the teenage migraine she suffered, or the two previous miscarriages.