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. 2021 Mar 19;5(1):9.
doi: 10.1186/s41927-021-00179-2.

Capillaroscopy as a diagnostic tool in the diagnosis of mixed connective tissue disease (MCTD): a case report

Mislav Radić #  1 , Rebecca S Overbury #  2
Affiliations

Capillaroscopy as a diagnostic tool in the diagnosis of mixed connective tissue disease (MCTD): a case report

Mislav Radić et al. BMC Rheumatol. .

Abstract

Background: The concept of mixed connective tissue disease (MCTD) as a unique connective tissue disease has endured for half a century. Disease onset can be in adulthood (MCTD) or of juvenile onset (jMCTD) and is characterized by overlapping features of systemic lupus erythematosus (SLE), polymyositis or dermatomyositis (PM/DM) and systemic sclerosis (SSc). No universally accepted classification criteria for MCTD exists, however agreed upon overlapping disease features include the presence of high titers of U1 small nuclear ribonucleoprotein particle antibodies (U1snRNP) in the peripheral blood, Raynaud's phenomenon, synovitis, myositis and swollen hands or fingers. Characteristic capillaroscopy findings are commonly seen in MCTD and jMCTD, which may represent a crucial and key clue for classification as well as prognosis in these patients.

Case presentation: We present a young male patient, with symptom onset as early as age 13, who was diagnosed with MCTD at age 16 and found to have high titers of anti-U1snRNP antibodies, Raynaud's phenomenon, synovitis, and swollen hands and fingers. Most interestingly, his video capillaroscopy at diagnosis was abnormal and revealed an active SSc-like pattern. His presentation and course are described.

Conclusions: We conclude that based on existing data, and as highlighted by this case presentation, nailfold video capillaroscopy should be included as an early screening tool for the detection of microangiopathy in patients with the diagnosis MCTD and jMCTD. Additionally, given its prevalence in this population at disease diagnosis, we recommend consideration be given to nailfold video capillaroscopy as a potentially important classification criteria and prognostic tool for jMCTD and MCTD.

Keywords: Capillaroscopy; Classification criteria; Juvenile mixed connective tissue disease; Mixed connective tissue disease; Raynaud’s phenomenon.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Mixed connective tissue disease concept
Fig. 2
Fig. 2
‘Active’ scleroderma pattern, giant capillaries (a), reduced capillary density and hemorrhages (b)
See this image and copyright information in PMC

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