In the second part of our series, Ian Bickle takes you through another clinical exam question

General medical doctors admitted a 71 year old man with symptomatic anaemia. He informed the admitting doctor of multiple hospital admissions over the past 20 years and receives regular blood transfusions. His problems began as a young man, with recurrent nosebleeds and, from middle age, recurrent episodes of dark, foul smelling stools. Several of his family members from different generations have similar problems, including two of his daughters.

Questions

1. Describe the appearance of this person (Figs 1, 2, 3).
   
2. Outline the clinical features of symptomatic anaemia.
   
3. Comment on the blood results in the box.

   You note below an oesophagealgastroduodenoscopy (OGD) finding from a previous admission only three months earlier.

4. Describe the findings of the OGD (Fig 4).
   
5. Describe the findings on examination from the medical notes and any relevance they may have to his overall condition.
   
6. What condition does this person have, and what is its mode of inheritance?
   

Blood profile on admission

Haemoglobin concentration 76 (130-180) g/l (normal range)
Packed cell volume 0.41 (0.40-0.54)
Leucocytes 3.6 (4.0-10.0) 109/l
Mean cell volume 97.7 (76-100) 10-12 /l
Mean cell haemoglobin concentration 292 (320-360) g/l
Platelets 203 (150-450) 109/l
Blood film: dimorphic erythrocytes

Answers

1. The person has multiple telangiectasias on his lips, perioral area, and tongue. These are superficial dilated arterioles and capillaries, which are susceptible to bleeding. Telangiectasias that are visible externally should alert clinicians to their possible presence elsewhere within the body, such as the gastrointestinal tract and lungs.
   

2. Patients with symptomatic anaemia may complain of: tiredness, shortness of breath, chest pain (angina because of reduced oxygen supply), cold peripheries, dizziness, syncope, palpitations, and their own subjective interpretation of pallor. The haemoglobin count at which any of these symptoms occur may vary between people. For example, a patient with existing angina is likely to complain of chest discomfort at a higher haemoglobin count than someone with no known ischaemic heart disease. People developing anaemia slowly may be remarkably tolerant at even very low haemoglobin counts. On examination there may be evidence of objective pallor of the skin—you should pay careful attention to the conjunctivae and palmar creases. There may be a tachycardia and a degree of hypotension. In some instances one may hear a systolic “flow” murmur on auscultation owing to high flow through a normal valve. It is heard in early systole and has a similar quality to aortic stenosis. In severe cases high output cardiac failure may occur. You may look for signs indicating the specific anaemia or ultimate diagnosis, such as glossitis in B- 12 deficiency and koilonychia in iron deficiency anaemia (see a future article in this series).

3. This patient has a normocytic anaemia. The mean cell volume is normal despite a reduced haemoglobin concentration of 76 g/l. However, he is currently taking iron supplements and received two units of packed cells only 10 days earlier. The blood film showing dimorphic erythrocytes (red blood cells of two different sizes) supports this history. The patient has a past history of iron deficiency anaemia. The other haematinics (components vital for the synthesis of blood cells), B-12 and folate, are within the normal range. Blood transfusion is normally recommended when the haemoglobin concentration is below 80 g/l, although a lower threshold of 100 g/l is often used for people with known ischaemic heart disease.

4. ultiple telangiectasias, as seen on the face, are also present throughout the gastric mucosa. On a prior admission the patient had been anaemic and required laser photocoagulation therapy of these gastric lesions at endoscopy. Bleeding from these lesions is likely to reoccur.

5. Examination of the abdomen showed serious hepatosplenomegaly. On palpation, doctors found a non-pulsatile firm liver measuring 11 cm and 1 cm of splenomegaly. This condition is associated with cirrhosis of the liver and the development of hepatocellular carcinoma. The development of ascites should raise the suspicion of possible hepatocellular carcinoma. This primary liver malignancy typically develops in areas of longstanding cirrhosis and is associated with a rise in the tumour marker a fetoprotein. This is also raised in testicular teratoma.

6. This patient and his family members have hereditary haemorrhagic telangectasia. Its inheritance is autosomal dominant. This condition was formerly known as Osler-Weber-Rendu.

   Ian Bickle senior house officer, Dept of medicine, Royal Victoria Hospital, Belfast
   
   Email: clonvara@yahoo.co.uk
   
   studentBMJ 2004;12:349-392 October ISSN 0966-6494
   
   

   With thanks to Dr Michael Callender, consultant physician, Royal Victoria Hospital, Belfast

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