Scleroderma and CREST syndrome

Question 28 from the first paper of 2012 and Question 20.1 from the second paper of 2008 asked candidates to identify slceroderma from pictures of shiny hand-skins and beaked mouths. Question 8  from the second paper of 2003 was more interested in CREST syndrome, and the very similar Question 22 from the first paper of 2023 was mainly interested in systemic sclerosis. Generally, the topic of mixed connective tissue disease seems to come up quite frequently, in one way or another. The savvy trainee will memorise some of the more interesting features, and will be able to rant about them in a systematic manner (if asked "how does this influence ICU management").

Probably the best reference for this sort of information is something like Harrisons, because it is basically some general medicine. The best reference for the relevance of these conditions to ICU management is Harrison W. Faber's analytical review (2010), which is sadly not available as a free full text publication. Overall, scleroderma patients have a higher in-hospital and ICU mortality (Shalev et al, 2006) which seems to be mainly associated with respiratory failure and infectious complications of a suppressed immune system.

A brief summary of scleroderma

If one were expected to "write short notes on scleroderma", one would open with something like this:

• Scleroderma is a multi-system disease associated with widespread progressive fibrosis of the skin and internal organs
• It may manifest either as a diffuse systemic disease ("diffuse cutaneous systemic sclerosis") or as the limited CREST syndrome (which has
• Diagnosis if confirmed by anti-centromere antibodies (positive in a large proportion of cases).

Clinical features of scleroderma

Cutaneous manifestations

• Skin thickening
• Oedema of the digits
• Sclerodactyly
• Pitting ulceration, particularly at the fingertip
• Calcinosis over joints
• Telangiectasia
• Raynauds phenomenon

Other associated clinical features:

• Sjogren syndrome
• Limited mouth opening
• Signs of pulmonary hypertension (loud P2, etc)
• Cardiac arrhythmias
• Features of heart failure
• Features of Cushing syndrome due to long term steroids
• Renal artery bruitts

Features of CREST syndrome

CREST stands for:

• Calcinosis cutis
• Raynauds phenomenon
• oEsophagitis
• Sclerodactily
• Telangiectasia

Connective tissue disease issues which influence ICU management

1.  Difficult intubation:
   1. Limited neck extension
   2. Limited mouth opening
2.   Respiratory involvement:
   1. Pulmonary fibrosis
   2. Restrictive lung disease
   3. Pulmonary hypertension
   4. SpO₂ monitoring may be frustrated by poor end-digital perfusion
   5. The rapidly fatal "scleroderma-pulmonary-renal syndrome (SPRS)" may develop, which manifests as a fulminant course of acute normotensive renal failure associated with diffuse alveolar hemorrhage.
3. Cardiovascular involvement of the disease process:
   1. Cardiac problems:
      1. Arrhythmias,
      2. Myocardial fibrosis (thus, restrictive diastolic failure)
      3. Pericardial stricture (also restricts diastolic filling)
   2. Vascular problems
      1. Difficult vascular access: the skin, being very thick, makes it difficult to palpate vessels (veins and arteries both)
      2. Poor distal perfusion of the extremities, leading to gangrene- as one might expect this is not improved by arterial cannulation.
      3. Poor skin perfusion promotes pressure areas
4. Neurological sequelae: 
   1. Corticosteroid-associated psychosis
   2. Cerebral vasculitis
5. Electrolyte disturbances
   1. Hyponatremia and fluid retention due to corticosteroid therapy
   2. Hyperkalemia due to renal failure
6. Renal involvement
   1. Renal failure, renal artery stenosis
   2. Scleroderma "renal crisis"
7. Gastrointestinal and nutritional issues
   1. Oesophagitis
   2. Poor gut motility
   3. Decreased feed tolerance
   4. Risk of aspiration.
   5. Risk of oesophageal perforation
   6. Telangiectasia is present also on mucosal surfaces; there is an increased risk of bleeding from upper GI sites
8. Haematological problems:
   1. Anaemia of chronic disease is coupled with the poor EPO synthesis from damaged kidneys.
   2. Bone marrow function may be suppressed in other ways, particularly if serious immunosuppresants are in use (eg. cyclophosphamide)
9.     Immunosuppressive therapy
   1. Increased infection risk