A Review of Primary Vasculitis Mimickers Based on the Chapel Hill Consensus Classification

Table 2

Overview of genetic disorders mimicking LVV.

	Marfan syndrome (MFS) [20]	Loeys-Dietz syndrome (LDS) [21]	Ehlers-Danlos syndrome (EDS) [22]	Neurofibromatosis type 1 (NF-1) [23]
Definition	Autosomal dominant heritable connective tissue disorder caused by a fibrillin 1 (FBN1) gene mutation	Autosomal dominant heritable connective tissue disorder caused by a mutation in the transforming growth factor β receptor 1 or 2 (TGFBR1/TGFBR2) genes	Autosomal dominant connective tissue disorder caused by mutations in the genes encoding type I or III procollagen (COL1A1/COL3A1). Thirteen subtypes are recognized with subtype four known as vascular EDs (vEDS)	Autosomal dominant genetic disorder caused by a mutation in the neurofibromin 1 (NF1) tumor-suppressor gene
Main clinical features	(i) Aortic root dilation; (ii) Aortic root dissection; (iii) Ectopia lentis; (iv) Spontaneous pneumothorax; (v) Mitral valve prolapse; (vi) Musculoskeletal anomalies (hindfoot deformity, pectus carinatum or excavatum, scoliosis, and arachnodactyly)	(i) Hypertelorism; (ii) Bifid uvula or cleft palate; (iii) Arterial tortuosity and aneurysms that can involve the aorta, head, neck, and abdominal arteries	(i) Dissection or spontaneous arterial rupture occurring in young patients; (ii) Spontaneous sigmoid colon perforation; (iii) Uterine rupture during pregnancy; (iv) Carotid-cavernous sinus fistula formation; (v) Other minor criteria include skin, muscle, bone, and joint anomalies	(i) Café-au-lait spots; (ii) Axillary freckling; (iii) Optic pathway gliomas; (iv) CNS tumors; (v) Lisch nodules; (vi) Neurofibromas; (vii) Learning disabilities; (viii) Aneurysms; (ix) Arterial stenoses; (x) Aortic coarctation; (xi) Arteriovenous malformations