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Shapshot diagnosis - why is this woman pallid and tired?

Dr Mike Wyndham on how pallor, tiredness and a few telangiectases were the clues to this diagnosis

Dr Mike Wyndham on how pallor, tiredness and a few telangiectases were the clues to this diagnosis

The patient

Alice is a 73-year-old lady who complains that she hasn't been feeling her normal self. She says she is normally energetic, but over recent weeks she has felt increasingly tired and short of breath on exertion. Her ankles have been looking swollen. Her friends say she has been looking paler than normal. Her medical history is unremarkable and she eats a normal diet. Examination shows the conjunctivae are indeed pale. There is a little ankle swelling and a few fine crepitations present at both lower zones of her lungs, suggestive of mild heart failure.

First instinct

The pallor, shortness of breath and lack of energy suggested anaemia. However, the breathlessness and ankle swelling could have been caused by heart failure. Perhaps there was a combination of both. The mild heart failure was treated with furosemide and blood tests carried out. The full blood count showed the haemoglobin was 8g with an MCV of 74 and a ferritin of 5. Iron deficiency anaemia was confirmed.

Differential diagnosis

Iron deficiency anaemia may have many causes in this age group. These include poor diet, post gastrectomy (not relevant here), coeliac disease and neoplasia affecting the gastrointestinal tract.

The hidden clue

Well, not so hidden. I hadn't really noticed it at the first consultation but at the follow-up, I noticed several telangiectases on her face, lips and buccal mucosae.

Getting on the right track

The likely diagnosis was Osler-Weber-Rendu, also known as hereditary haemorrhagic telangiectasia (HHT). I started Alice on some iron and made a two-week cancer referral so that the anaemia could be fully investigated. The diagnosis was confirmed at colonoscopy.

HHT is rare, affecting one to two people per 100,000 in the US.

It is a condition that is inherited by an autosomal dominant gene. Blood vessels in all parts of the body may be affected and bleeding may result.

Dr Mike Wyndham is a GP in Edgware, north London

Why is this woman pallid and tired? Why is this woman pallid and tired?

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