The patient
This 60-year-old woman rarely attended surgery – her notes only referred to recurrent epistaxis some years ago.
On this occasion, she was concerned about her tongue. She described painless spots that had been present for years, but which were becoming more marked. A friend had recently developed mouth cancer, so she was concerned about her own lesions.
She didn't smoke and otherwise seemed well, with a normal appetite and steady weight. She didn't volunteer any further symptoms, though did admit to mild breathlessness which she had noted for many months but that didn't really bother her.
First instinct
It's not unusual for patients to be anxious about lesions in the mouth – but, in my experience, they rarely amount to much more than an aphthous ulcer, geographic tongue or glossitis. These lesions though were atypical, and the length of history was odd. They looked like tiny blood blisters or vascular lesions. There seemed to be a couple on her upper lip too, though she hadn't mentioned these and didn't admit to noticing any elsewhere on her body.
Differential diagnosis
• Glossitis
• Various forms of ulceration
• Blood blister
• Drug reaction
• Haemangiomas.
Most of these could be ruled out either on the grounds of appearance or history. Glossitis produces a diffusely red, smooth and sometimes sore tongue. Ulcers – traumatic, aphthous or malignant – also have a characteristic appearance, unlike the lesions here. Blood blisters or a drug reaction didn't fit with the history. That left haemangiomas, but I also had a vague recollection of something I'd heard about at medical school but never seen in practice.
The hidden clue
There were actually two clues. One was her breathlessness – when I looked at her, rather than just her tongue, I realised she was very pale. In fact, she was clinically anaemic. The other clue was the history of epistaxis, though I only realised this in retrospect.
Getting on the right track
We switched focus to the probable anaemia, which revealed a very low haemoglobin of 7.4 g/dl with iron-deficient parameters. But it wasn't until she saw the gastroenterologist for an urgent assessment that it all came together. She had hereditary haemorrhagic telangiectasia – hence the lesions on the tongue and the chronic blood loss through the gut. It was an unusually late presentation, but also explained her recurrent nosebleeds.
Dr Keith Hopcroft is a GP in Laindon, Essex
