Endgames Case Report

Raynaud’s phenomenon and macrocytic anaemia

BMJ 2010; 341 doi: http://dx.doi.org/10.1136/bmj.c6011 (Published 08 December 2010) Cite this as: BMJ 2010;341:c6011
  1. V Flower, specialty trainee year 2, core medical training1,
  2. J D Pauling, research fellow1,
  3. J A Shipley, clinical measurement lead1,
  4. N J McHugh, honorary professor of rheumatology, consultant rheumatologist 12
  1. 1Royal National Hospital for Rheumatic Disease, Bath, UK
  2. 2School for Pharmacy and Pharmacology, University of Bath, Bath, UK
  1. Correspondence to: J D Pauling john.pauling{at}rnhrd.nhs.uk

A 50 year old man was referred to our rheumatology unit with an 18 month history of classic Raynaud’s phenomenon with episodic digital pain and biphasic (white-blue) colour changes associated with cold exposure. He had noticed that his urine was dark during periods of cold weather. He had a macrocytic anaemia but normal serum levels of vitamin B-12 and folate. There were no additional clinical features to suggest an underlying connective tissue disease, and an autoimmune serology was negative.

Initial laboratory investigations showed a haemoglobin concentration of 107 g/l, mean corpuscular volume of 104.4 fl, bilirubin concentration of 47 µmol/l, and lactate dehydrogenase 695 U/l. Reticulocyte count was raised at 162.4 (normal range 10-100). IgG and IgA levels were normal. IgM concentration was raised at 3.62 g/l (normal range 0.5-2.0 g/l). Infrared thermography at baseline was normal, but delayed rewarming was apparent after local cold exposure, consistent with Raynaud’s phenomenon (fig 1). Nailfold capillaroscopy was normal.

Fig 1 Thermal images (A) at baseline and (B) 10 minutes after local cold challenge

Questions

  • 1 What would be a more accurate medical description of this patient’s symptoms?

  • 2 What is the likely diagnosis?

  • 3 What are the causes of this disease?

  • 4 What additional investigations would you perform to confirm the diagnosis?

  • 5 How should the patient be managed?

Answers

1 What would be a more accurate medical description of this patient’s symptoms?

Short answer

This patient’s symptoms would be best described as acrocyanosis. Classic Raynaud’s phenomenon involves triphasic colour changes that include a red-purple phase (representing post-ischaemic hyperaemia), although this stage is not essential for a diagnosis of Raynaud’s phenomenon.1

Long answer

Raynaud’s phenomenon describes abnormal vascular reactivity, most often after exposure to cold or emotional stress. Raynaud’s phenomenon typically affects the fingers and toes, but can also affect other extremities such as the thumbs, nose, ears, and nipples. Episodes are usually accompanied by colour changes in the …

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