Eureka! - Clinical Case Studies – Vol. III
‘Taking the history’ from a patient is the first and most important part of a medical consultation.
Sometimes the enormity of the process is overwhelming.
Mrs S.U. arrived for her appointment without a GP’s referral letter or any other documents – there had been some confusion. The 51-year-old was, however, calm and unflustered. Bit by bit the history unfolded…
Doctor: “Did you have any childhood illnesses?”
Mrs S.U: “Not until the age of 14 when I had a fit in the middle of York market”.
Doctor: “Was any firm diagnosis made?”
Mrs S.U: “I was seen by a specialist and had tests. At first, there was no clear diagnosis. But then I had two further seizures, and for a year or two, I was put on epilepsy tablets”.
Doctor: “Any headaches or other symptoms?”
Mrs S.U: “I started to get frequent headaches, as well as funny pins and needles in my arms and legs. The doctors suspected multiple sclerosis. However, things didn’t progress, and in my twenties, I was well apart from occasional migraine”.
Doctor: “Did you have any pregnancies?”
Mrs S.U: “My first pregnancy ended at eight months, when the baby dies. The doctors couldn’t find a cause. The little boy seemed normal. Then I had two successful pregnancies and I have two healthy grown up daughters. My fourth pregnancy miscarried at four months. My husband and I decided that enough was enough”.
Doctor: “In your thirties?”
Mrs S:U: “I was reasonably well, working full time in an office. I suppose it was about the age of forty, ten years ago, when new things happened. I started to suffer quite severe tummy pains – oddly enough, about an hour or so after a meal”.
Doctor: “Was any cause found?”
Mrs S.U: “No. I had scans and an endoscopy. Nothing. I tried Gaviscon and Zantac, and even tried a gluten-free diet but nothing really helped – apart from taking more frequent meals.
Doctor: “Any other symptoms?”
Mrs S.U: “Well, over the past two to three years, I have had a number of attacks and giddiness – first I was told it was Menieres disease, but I think they are not so certain now. Then, for the past few years, I have had a mixture of fatigue and aches and pains. The headaches have been bad”.
Doctor: “Any memory problems?”
Mrs S.U: “Oh yes! I used to have a wonderful memory but recently, it seems to have deserted me. I even forgot to collect the GP’s letter I had promised to bring to this appointment. I am a little concerned because I have had two episodes of numbness down one side of my body. It was then that my doctors started aspirin”.
Doctor: “Although, I don’t have a GP’s letter, clearly the diagnosis of Hughes syndrome was suspected?”
Mrs S.U: “The story is interesting: something of a ‘Eureka moment’ in fact. One evening, my husband came running upstairs – “I’ve got it”. And he had! He had been scouring the internet and had come across the Hughes Syndrome Foundation’s website (www.hughes-syndrome.org)”.
All the features added up. Made sense. And to their credit, Mrs S.U’s hospital doctor and GP followed up on the suggestion that Hughes Syndrome was at least a part of the complex puzzle. They re-investigated her and found positive antiphospholipid antibody (aPL) tests. She was also found to have dry eyes (possible Sjogren’s) and a slight heart murmur – thought not to be serious. Her doctors started her on aspirin and Plaquenil.
What is this patient teaching us?
Firstly, of the many alternative diagnosis this patient received – migraine, epilepsy, multiple sclerosis, fibromyalgia, celiac, Sjogren’s etc., some were helpful, some not.
Secondly, Hughes syndrome is complex. Like other autoimmune conditions such as lupus, it can present a wide variety of guises.
Mrs S.U’s early features included fits and migraine. A study carried out by Cimaz et al in Milan suggests that up to one in five cases of idiopathic (where no obvious cause is found) epilepsy were found to be aPL positive.
The tragic pregnancy history is also telling. The loss of a baby at eight months may have a number of causes – but high on the list is the potentially preventable condition, Hughes Syndrome.
Later features included abdominal pain – possibly ‘abdominal angina’ – pain after a big meal because the blood supply needed for digestion is impaired. Add to that Sjogren’s (dry eyes, and aches and pains), hearty murmurs, balance problems and memory loss – no wonder Mrs S.U’s husband rushed up the stairs!
Mrs S.U. may well require more substantive anti-clotting treatment, such as warfarin.
She is one of Britain’s heroes. I think she will do well.