Table 9 Rare vasculopathies

PACNS

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Headache, cognitive impairment, stroke or TIA, focal neurological deficits, seizure, Impaired level of consciousness, psychiatric or mood disorders

CSF analysis: lymphocytic pleocytosis and elevated protein levels; Neuroimaging: Multiple ischemic lesions, intraparenchymal or subarachnoid hemorrhage, vessel wall enhancement (black blood MRI); Brain biopsy: necrotizing, lymphocytic, or granulomatous (amyloid beta-related vasculitis may be associated)

Induction: CS, CYC; Remission: AZA or MMF

Cogan syndrome

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Sudden onset tinnitus and vertigo, hearing loss (Meniere-like features); Nystagmus, non-syphilitic interstitial keratitis, uveitis, episcleritis, scleritis, optic neuritis, aortitis (Takayasu-like features)

Increased IM during disease flares; Currently, no specific serological biomarker is available

CS, TNFi, CYC, MTX, CsA, MMF, and AZA

Susac syndrome

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Headache (migraine pattern), subacute encephalopathy, severe confusional state with behavioral disturbances, psychiatric manifestations, multiple BRAO (gass plaques), sensorineural hearing loss

Neuroimaging: snowball lesion in corpus callosum; CSF: lymphocytic pleocytosis, increase levels of protein, oligoclonal bands are rare; Retinal fluorescein angiography with multiple BRAO; Audiogram: hearing loss predominating in the low to midtone range frequencies

CS, CYC, AZA, MMF, RTX, anti-platelet agents

Vogt-Koyanagi-Harada disease

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Fever, malaise, nausea, bilateral granulomatous panuveitis, iris lesion (Sugiura sign), eyelash whitening (poliosis), vitiligo, hearing loss, meningismus, tinnitus

OCT with exudative retinal detachments; Indocyanine green angiography or fluorescein angiogram with retinal depigmentation (Dalen Fuchs nodules and sunset glow fundus)

CS, AZA, CYC, MTX, CsA and MMF

IgG4-RD

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Major salivary and lacrimal gland enlargement, orbital disease, hypophysitis, autoimmune pancreatitis, tubulointerstitial nephritis, thyroiditis, mediastinal fibrosis, hypertrophic pachymeningitis and retroperitoneal fibrosis

Mild peripheral eosinophilia, increased IgG4 and IgE blood levels; Decreased C3 and C4 complement in disease flare; Biopsy: Dense lymphoplasmacytic infiltrate, elevated numbers of IgG4 positive cell, IgG4 to IgG ratio > 40%, storiform fibrosis, obliterative phlebitis

CS, RTX, AZA, MMF, CYC

Relapsing polychondritis

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Bilateral auricular chondritis, nasal chondritis, respiratory tract chondritis, non-erosive seronegative inflammatory polyarthritis, uveitis, conjunctivitis, necrotizing scleritis, hearing loss. MAGIC syndrome, VEXAS or MDS may be associated

Increased IM during disease flares; Dynamic CT chest expiratory airway abnormalities; Bronchoscopy: potential airway collapse or stenosis

CS, NSAID, dapsone, AZA, TNFi, RTX and CYC

Livedoid vasculopathy

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Chronic, recurrent thrombo-occlusive disease of the veins, livedo racemosa and Milian white atrophy; Primary thrombophilia or APS may be associated

Primary thrombophilia lab and anti-phospholipid antibodies should be tested; Biopsy: intraluminal thrombosis, endothelial proliferation, subintimal hyaline degeneration

Aspirin, anticoagulants. HOT, CS, AZA, HCQ, CsA and CYC

Kohlmeier-Degos disease¶

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Atrophic skin lesions, porcelain-white papules with peripheral telangiectasias, mesenteric ischemia and strokes

Biopsy: skin atrophy with thrombotic vasculopathy, rich mucin deposit and presence of C5-9 complement

CS, prostaglandin agonists, anticoagulation and eculizumab

Juvenile temporal arteritis

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Usually affects individuals younger than 50 with asthenia, headache or visual blur and a lump in the temporal

region

Peripheral blood eosinophilia. Normal IM; Temporal artery biopsy: panarteritis with a prominent eosinophilic infiltrate, granulomatous lesions or giant cells are rare

Spontaneously remission; Relapsing: CS, NSAID, colchicine and complete excision