Stiff hands and feet, facial deformities

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Stiff hands and feet, facial deformities

J Fam Pract. 2016 February;65(2):121-124

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References

1. Scleroderma. American College of Rheumatology Web site. Available at: http://www.rheumatology.org/I-Am-A/Patient-Caregiver/Diseases-Conditions/Scleroderma. Accessed January 7, 2016.

2. Chatterjee S. Systemic scleroderma. Cleveland Clinic Web site. August 2010. Available at: http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/rheumatology/systemic-sclerosis/. Accessed January 7, 2016.

3. Hinchcliff M, Varga J. Systemic sclerosis/scleroderma: a treatable multisystem disease. Am Fam Physician. 2008;78:961-968.

4. Bunn CC, Denton CP, Shi-Wen X, et al. Anti-RNA polymerases and other autoantibody specificities in systemic sclerosis. Br J Rheumatol. 1998;37:15-20.

5. van den Hoogen F, Khanna D, Fransen J, et al. 2013 classification criteria for systemic sclerosis: an American college of rheumatology/European league against rheumatism collaborative initiative. Ann Rheum Dis. 2013;72:1747-1755.

6. Pavlov-Dolijanovic S, Damjanov NS, Stojanovic RM, et al. Scleroderma pattern of nailfold capillary changes as predictive value for the development of a connective tissue disease: a follow-up study of 3,029 patients with primary Raynaud’s phenomenon. Rheumatol Int. 2012;32:3039-3045.

7. Lung involvement. University of Michigan Health System, Scleroderma Program Web site. Available at: https://www.med.umich.edu/scleroderma/patients/lung.htm. Accessed January 7, 2016.

8. Morelli S, Barbieri C, Sgreccia A, et al. Relationship between cutaneous and pulmonary involvement in systemic sclerosis. J Rheumatol. 1997;24:81-85.

9. Schurawitzki H, Stiglbauer R, Graninger W, et al. Interstitial lung disease in progressive systemic sclerosis: high-resolution CT versus radiography. Radiology. 1990;176:755-759.

10. Wells AU, Steen V, Valentini G. Pulmonary complications: one of the most challenging complications of systemic sclerosis. Rheumatology (Oxford). 2009;48:iii40-iii44.

11. Thombs BD, Taillefer SS, Hudson M, et al. Depression in patients with systemic sclerosis: a systematic review of the evidence. Arthritis Rheum. 2007;57:1089-1097.

12. Benrud-Larson LM, Heinberg LJ, Boling C, et al. Body image dissatisfaction among women with scleroderma: extent and relationship to psychosocial function. Health Psychol. 2003;22:130-139.

13. Iudici M, Cuomo G, Vettori S, et al. Low-dose pulse cyclophosphamide in interstitial lung disease associated with systemic sclerosis (SSc-ILD): efficacy of maintenance immunosuppression in responders and non-responders. Semin Arthritis Rheum. 2015;44:437-444.

14. Treatment of the Raynaud phenomenon resistant to initial therapy. UpToDate Website. Available at: http://www.uptodate.com/contents/treatment-of-the-raynaud-phenomenon-resistant-to-initial-therapy. Accessed January 7, 2016.

15. Kanekura T, Fukumaru S, Matsushita S, et al. Successful treatment of scleroderma with PUVA therapy. J Dermatol. 1996;23:455-459.

16. Jayson MI, Lovell C, Black CM, et al. Penicillamine therapy in systemic sclerosis. Proc R Soc Med. 1977;70:82-88.

Lab tests, imaging studies are used to diagnose SSc

Generally, blood testing in patients with SSc may show thrombocytopenia, hypergammaglobulinemia, or (in patients with renal involvement of SSc) elevated blood urea and creatinine levels. Creatine kinase, erythrocyte sedimentation rate, and C-reactive protein may be elevated due to myositis, vasculitis, malignancy, or an overlap of systemic sclerosis with another autoimmune disease.³

Raynaud’s phenomenon is often the first symptom of limited systemic sclerosis.

Serologic testing. Antinuclear antibodies (ANA) are positive in 60% to 80% of patients with SSc.² Antibodies to topoisomerase-1 (Scl-70 antibodies) are present in 30% of cases of dSSc.²The presence of either anticentromere antibodies (ACA) or anti-Scl-70 is highly specific (95%-99%) for the diagnosis of lSSc and dSSc, respectively.² Anti-polymerase 1 and 3 antibodies (RNAP) are associated with dSSc and a significantly higher incidence of renal involvement.⁴

Capillary microscopy can be helpful in showing dilated, tortuous, and enlarged capillaries in the nail fold and adjacent areas. It is an effective method for distinguishing between primary and secondary Raynaud’s phenomenon.⁶

Chest x-ray. The lungs are involved in approximately 80% of all patients with SSc, and lung involvement is the leading cause of morbidity and mortality.⁷ The 2 most common types of direct pulmonary involvement are interstitial lung disease and pulmonary hypertension, which together account for 60% of SSc-related deaths.⁸

Key elements of sclerodermal lung disease are inflammation, lung scarring, and pulmonary hypertension due to progressive scarring of the inner lining of the small arteries. Inflammation and scarring of lung tissue causes interstitial lung disease. This is more common in dSSc, whereas pulmonary hypertension is more common in lSSc.⁸ In ssSSc, pulmonary disease can occur without any skin involvement. High-resolution computer tomography scans of the lungs (HRCT) can sensitively detect scarring and severity of lung inflammation, while a simple chest x-ray cannot.⁹ Interstitial abnormalities on HRCT have been found in 90% of patients.⁹

Spirometry. Interstitial lung disease leads to a reduction in forced vital capacity (FVC) and diffusing capacity of the lungs for carbon monoxide (DLCO). Significant pulmonary involvement is detectable in 25% of patients with SSc within 3 years of diagnosis.¹⁰Interstitial fibrosis shows a restrictive pattern on spirometry. Forced expiratory volume in 1 second (FEV1) and FVC are reduced, and the FEV1/FVC ratio is normal or increased.