Patients with Large-Vessel Abnormalities Present Diagnostic Dilemma for Rheumatologists

Follow-Up

Prednisone was tapered off rapidly, and anticoagulation, blood pressure control and beta-blockade were started to prevent recurrence and progression of dissections. Over the next month, the patient’s inflammatory markers normalized. CT angiogram was repeated three months and nine months after initial presentation, demonstrating resolution of inflammatory changes and no new vascular lesions. Genetic testing for abnormalities in the COL3A1 gene was negative. Given the constellation of findings, we favored the diagnosis of SAM, although EDS type IV could not be completely ruled out.

Discussion

This case illustrates the diagnostic dilemma that rheumatologists confront when evaluating patients with large-vessel abnormalities. In the absence of signs and symptoms suggestive of a specific etiology (such as skin lesions and arthralgias seen in TAK, cranial symptoms seen in giant cell arteritis [GCA], oral and genital ulcers seen in Behçet’s, mononeuritis multiplex seen in polyarteritis nodosa or acrogeria and characteristic facies seen in EDS type IV), the clinician must rely on inflammatory markers and imaging to make the diagnosis.

Inflammatory markers can be helpful in the diagnostic evaluation; however, they have significant shortcomings. For example, in a study of 60 patients with TAK, only 72% had an elevated ESR during active disease, a finding consistent with other studies.⁷ In addition, although most patients with noninflammatory vasculopathy have normal inflammatory markers, the markers can be elevated in a minority of patients, particularly in the setting of acute dissection, as with our patient.

Given the limitations of laboratory testing, the interpretation of imaging studies is critical in differentiating between inflammatory and noninflammatory vascular processes. In our patient’s case, the presence of dissections without the long, smooth stenotic lesions seen in TAK and GCA, the absence of diffuse vascular involvement and the presence of inflammatory changes only in focal segments of dissection, all suggested a noninflammatory etiology. Further, the absence of lesions in the aorta and its branches, present in over 90% of patients with TAK and GCA, argued strongly against these etiologies.7

In summary, noninflammatory vasculopathies are important to consider in the evaluation of large-vessel abnormalities, (e.g., dissection, stenosis or aneurysm), renal infarcts and aortitis. A careful history, examination, review of imaging and laboratory testing (including genetic testing) are critical to making the correct diagnosis.

Eli Miloslavsky, MD, is an instructor in medicine at Harvard Medical School and Massachusetts General Hospital, Division of Rheumatology, Allergy and Immunology in Boston.

References

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