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"It's all in the mind"

Mrs LL (33 years old) arrived with her husband for her appointment without a doctor’s letter. It was somewhere in the post.

The history, however was clear.

Since her childhood, she had suffered with severe migrainous headaches.

At the age of 21 she suffered acute life-threatening pulmonary embolus, treated for a period with warfarin, but followed by another pulmonary embolus 3 years later. For the following decade, she received intermittent treatment, but none was sustained.

At the age of 30, she suffered a transient ischaemic attack (‘T.I.A.’ or mini-stroke). A brain MRI was normal. Other symptoms and problems developed. Her balance became a problem. Her memory and, in particular, her ‘word finding’ became poor. She was forced to give up her job. Other problems included a tendency to faint, a tendency to abdominal pain following a meal (gastroscopy was normal), occasional angina-like chest pains and episodes of ‘weakness’ in the legs.

She had become pregnant twice, but each ended in miscarriage. She and her husband had received conflicting advice, but the consensus was for no further pregnancies.

For years, the diagnosis remained a mystery, and at least one doctor recommended a psychiatric opinion.

Finally, tests for antiphospholipid antibodies were found to be strongly positive. Yet still no specific treatment has been started.

On examination, she was uncomplaining, despite her ordeals, and gave a clear history. She had cold hands and feet, and two of the tell-tale features pointing to Hughes Syndrome – blotchy skin livedo, and a dry tear-test (suggesting the commonly associated autoimmune condition, Sjogren’s Syndrome).

Worryingly, the reflexes in the legs were exaggeratedly brisk (especially on flexion of the neck) – possible problems in the spinal cord.

I arranged my own tests and am due to see her for a follow-up next week.

What is this patient teaching us?

The history suggests almost a ‘full-house’ for Hughes Syndrome, with migraine, memory loss, miscarriage, T.I.A., livedo reticularis. Also possibly associated are abdominal pains (abdominal angina?), spinal cord involvement, and possible ‘autonomic neuropathy’.

At least 6 possible lessons:

1. Migraine, next to memory loss, is the commonest feature of Hughes Syndrome. I can only hope that one day, careful studies from migraine clinics will support my contention that Hughes Syndrome is an important, and potentially treatable cause of migraine.

2. Memory loss is almost universal in our more severely affected Hughes Syndrome patients. We have previously published on the marked memory improvement when anticoagulation treatment is started.

3. The brain and nervous system are frequently affected by Hughes Syndrome. As well as her migraine, memory loss and T.I.A., this patient almost certainly had involvement of the spinal cord – “myelopathy”, and of the autonomic (internal nerves) nervous system.

4. Pregnancy. Given appropriate treatment future pregnancy is not out of the question.

5. Tests for Hughes Syndrome. In this patient, two positive tests (anticardiolipin and anti-Beta 2 GP1 – now available cheaply and world-wide thanks to the kit companies – were strongly positive. If only these three tests had been carried out years before.

6. Need a psychiatrist? Not on your Nellie! How tragic is that in the 21st century, and 30 years after the discovery of Hughes Syndrome, so many patients have to go through this ordeal?

This article is intended to inform and give insight but not treat, diagnose or replace the advice of a doctor. Always seek medical advice with any questions regarding a medical condition.


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