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A woman with dysphagia and Raynaud's phenomenon

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A woman with dysphagia and Raynaud's phenomenon

Q1: Comment on the appearance of her tongue (fig 1) face (figs 3 and 4), and hands (fig 5) (see p 102–103)

Figure 1 reveals florid telangiectasias affecting the buccal mucosa and tongue. Figures 3 and 4 reveals facial telangiectasias and perioral radial furrowing. Figure 5 shows taught shiny skin and acrocyanosis of the digits.

Q2: Comment on the appearance of her barium swallow (fig 2) and suggest a unifying diagnosis

The barium swallow (see p 102) shows moderate oesophageal dilatation with no evidence of active peristalsis, suggesting a motility disorder. The underlying diagnosis is CREST syndrome (see discussion below).

Q3: Examination of her left elbow revealed a hard nodule over the extensor aspect. what does the radiograph (fig 6) show?

The radiograph of the elbow (see p 103) illustrates extensive subcutaneous calcification.

Discussion

Scleroderma is a generic term describing a group of related connective tissue diseases characterised by the development of skin/organ fibrosis, Raynaud's phenomenon, and specific autoantibodies in sera. A working classification normally divides these diseases into systemic and localised cutaneous forms.

Localised cutaneous forms include morphoea, linear scleroderma, and en coup de sabre (linear sclerotic lesion often affecting the scalp).

Systemic forms include two main disease patterns. First, limited cutaneous systemic sclerosis where skin sclerosis is restricted to the extremities and face; CREST (Calcinosis, Raynaud's phenomenon, oEsophageal dysmotility, Sclerodactly, and Telangiectasia) syndrome is a subset of this group. Although limited forms have prominent vascular instability characterised by severe Raynaud's phenomenon and pulmonary hypertension, internal organ fibrosis is uncommon compared with the diffuse disease pattern group and this is reflected in an overall 10 year survival of around 75%. Patients in this group often have a long history (up to 15 years) of Raynaud's phenomenon before the development of sclerodactly, facial disfigurement, etc.

The second disease pattern is the diffuse cutaneous systemic sclerosis group; this group represents the most serious form of the condition. These patients typically have a very short history of Raynaud's phenomenon before constitutional symptoms, skin oedema (then sclerosis), and internal organ involvement become apparent. The latter may manifest in the respiratory system (pulmonary fibrosis), genitourinary system (hypertensive renal crisis), cardiovascular system (conduction defects, restrictive cardiomyopathy), or gastrointestinal tract (malabsorption, bacterial overgrowth).

An interesting clinical problem which can often present to the practising physician or general practitioner alike is that of a young woman (of about 20 years) presenting with Raynaud-like symptoms. Is it an idiopathic isolated pathology with a benign course (Raynaud's disease) or is it the forerunner of a potentially life threatening underlying connective tissue disorder (Raynaud's phenomenon)? Although no specific test can provide the answer, by searching for specific features in the history, on examination and at the laboratory, one can often reassure the patient or alternatively arrange long term outpatient follow up (see box 1).

Box 1 : Primary idiopathic Raynaud's compared with secondary (underlying connective tissue disorder) Raynaud's

Primary idiopathic Raynaud's

  • Onset at puberty.

  • <5 attacks a day.

  • No ischaemic injury to digits.

  • No abnormal capilloroscopy.

  • No autoantibodies in serum.

Secondary (underlying connective tissue disorder) Raynaud's

  • Onset >25 years.

  • 5–10 attacks a day.

  • Ischaemic injury to digits.

  • Abnormal nailfold capilloroscopy.

  • Autoantibodies present in serum.

It is worthwhile elaborating on the gastrointestinal manifestations of the scleroderma cohort of patients, especially in view of the presentation of the case described above. Oesophageal dysmotility is by far the commonest manifestation in the gut and presents clinically with heartburn, dysphagia, and odynophagia. Later manifestations include bleeding, stricture, Barrett's oesophagus, and finally adenocarcinoma of the distal oesophagus. At a histological level, distal oesophageal biopsies reveal smooth muscle atrophy coupled with submucosal fibrosis. Endoscopy with biopsy, barium studies, and manometry all have a place in the diagnostic process. Management may be medical (proton pump inhibitors) or surgical (fundoplication).

Small and large bowel involvement is also seen and again is a result of muscle atrophy and fibrosis causing dysmotility, stasis and bacterial overgrowth. Patients complain of colic, bloating, diarrhoea, and even steatorrhoea with small intestinal disease. Breath tests and duodenal aspirates at endoscopy help to identify bacterial overgrowth which may be amenable to oral broad spectrum antimicrobial therapy. Colonic disease is rarely clinically significant and predominantly causes constipation.

It is worth noting that primary biliary cirrhosis (PBC) is a recognised association of scleroderma. Thus patients should have at least annual liver function tests performed at the clinic. Management of PBC in this situation is as for patients without non-scleroderma.

Investigations in a patient with a likely scleroderma subtype should include nailfold capilloroscopy, serology +/- skin biopsy (note that the latter test is not necessary for diagnosis in the majority).

Serological testing in systemic sclerosis is an evolving field. The majority of patients (90%) are antinuclear antigen positive. Three main serological subsets can be identified within the scleroderma population.

  1. Anticentromere antibody positive (36% overall):

    • Patients typically have the best prognosis of the three groups.

    • Patients usually present in limited cutaneous systemic sclerosis (including CREST).

    • Thought to confer “protection” from internal organ fibrosis, for example, renal disease.

    • Associated with pulmonary hypertension.

  2. Antitopoisomerase (Scl-70) positive (40% overall):

    • Associated with diffuse cutaneous systemic sclerosis.

    • Highest risk of developing fibrosing alveolitis.

  3. Anti-RNA polymerase I or III positive (20% overall):

    • Associated with diffuse cutaneous systemic sclerosis.

    • Patients tend to have the most severe scleroderma and renal involvement

Other staging investigations will depend on the clinical features present. For example, pulmonary function testing, high resolution computed tomography of chest and echocardiography for those complaining of breathlessness (?pulmonary fibrosis, ?pulmonary hypertension).

There is no curative treatment for systemic sclerosis but the majority of patients can be helped with an organ based approach to the complications which arise (see box 2).

Box 2 : Complications and treatment for systemic sclerosis

  • Raynaud's phenomenon: Socks and gloves, avoid smoking, calcium blockers, intermittent iloprost infusions, digital sympathectomy.

  • Gastro-oesophageal reflux: Proton pump inhibitor.

  • Small bowel bacterial overgrowth: Rotating courses of oral antibiotics.

  • Hypertensive renal crisis: Angiotensin converting enzyme inhibitor.

  • Fibrosing alveolitis: Prednisolone +/- azathioprine.

  • Pulmonary hypertension: Calcium blockers, iloprost infusions, long term oxygen, oral anticoagulation.

  • Cardiac arrhythmias: Antiarrhythmics, pacemaker insertion.

No drug has been shown to halt the progression of systemic sclerosis in a sufficiently large and powerful prospective randomised controlled clinical trial. Ascertaining improvement or deterioration in scleroderma is difficult. Moreover, the disease is variable in severity and rate of progression. Also, spontaneous improvement may occur after several years, especially involving the skin. Thus trials are difficult to design and interpret in the context of systemic sclerosis. Suggested treatments to halt the fibrotic process include D-penicillamine and gamma interferon, but efficacy remains to be proven in a randomised trial setting. In addition, it may not be justifiable to use treatments with potentially serious side effects in some scleroderma subsets with good prognoses (for example, limited cutaneous disease) especially given the lack of proved efficacy.

Final diagnosis

CREST syndrome.

References

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