Clinical History
65-year-old female patient presented to the rheumatology outpatient department referred by her General Practitioner. She described a long-term history of pallor, cyanosis and rubor colour change in her hands during winter months. More recently, her hands had become swollen, hard and tender. She had also noticed increased difficulty swallowing.
Imaging Findings
In figure 1 a and b, the hand X-ray shows soft tissue calcification in the tufts of the distal phalanges of the right index, right middle, right ring, left thumb and left index fingers. There is also soft tissue calcification projected over the middle phalanges of the right and middle and ring fingers. Figure 2 shows a dilated oesophagus with delayed emptying, consistent with diffuse oesophageal dysmotility. There is also mucosal irregularity at the distal oesophagus suggestive of oesophagitis. Two years after initial presentation, the patient underwent a High Resolution CT (HRCT) to exclude interstitial lung disease. Figure 3 again shows the diffuse dilatation of the thoracic oesophagus as seen on HRCT. Figure 4 shows dilatation of the main pulmonary artery suggestive of secondary pulmonary hypertension. Finally, figure 5 shows scattered bilateral ground glass opacities and bronchiectasis of the lower lungs.
Discussion
CREST syndrome is the limited cutaneous form of systemic sclerosis, a connective tissue disease. It is characterised by calcinosis, Raynaud's syndrome, oesophageal dysmotility, sclerodactyly and telangiectasia that make up the acronym CREST. The above patient presented with a history of Raynaud's syndrome (colour change in the hand in response to cold stimuli), sclerodactyl (localised thickening of the fingers), and oesophageal dysmotility. Each component of the acronym do not have to be present in order to make a diagnosis of CREST; as the oesophageal (E) symptom is often absent [1]. Although the above patient presented with cardinal features of CREST syndrome, further testing was important to rule out more sinister causes of symptoms and to make a definitive diagnosis. Calcinosis, although clinically palpable in this patient, should be investigated by X-ray of the hands to fully evaluate disease progression. Further blood calcium levels should be taken to exclude a metabolic disturbance as a cause of the calcinosis. Barium meal is required to confirm oesophageal dysmotility and can also outrule other causes of the above patient's difficulty swallowing. In this case, a small hiatal hernia and oesophagitis were also evident on the barium swallow. Certain antibodies specific to CREST syndrome, anticentromere antibodies and ANA, can determine oesophageal involvement if the patient is also negative for the non-specific Anti-Scl-70 antibody [2]. A high resolution CT (HRCT) is an important imaging modality that should be performed on all patients with a suspected diagnosis of CREST syndrome. It allows the physician to evaluate for the presence of interstitial lung disease which has been shown to be present in 80% of patients with systemic sclerosis at autopsy and can be present in both the limited (CREST) and diffuse forms of the disease. HRCT is also useful at assessing pulmonary artery dilatation, which would indicate secondary pulmonary hypertension and occurs in up to 50% of patients with systemic sclerosis [4]. There is a sensitivity of 87% and specificity of 89% in patients with a diameter greater than 29 mm for a diagnosis of pulmonary hypertension. The above patient had a pulmonary artery diameter measuring 35 mm. However, to definitely diagnose pulmonary hypertension right heart catheterisation is required and would need to measure a mean pulmonary artery pressure greater than 25 mm Hg at rest with normal being 10 mm Hg [5]. The above discussion demonstrates that CREST syndrome can be diagnosed clinically, but requires further imaging to evaluate disease progression.
Differential Diagnosis List
Limited scleroderma (CREST syndrome)
Eosinophilia-myalgia syndrome (EMS)
Primary pulmonary hypertension
Final Diagnosis
Limited scleroderma (CREST syndrome)
