Familial Association of Granulomatosis With Polyangiitis: A Case-Based Review of Literature

被引：1
|
作者：
Farrukh, Larabe [1 ]
Mumtaz, Aqsa [2 ]
Sami, Faria [3 ]
Faraz, Maria [4 ]
Ngo, Khoa Richard [5 ]
机构：
[1] Albany Med Ctr, Internal Med, Albany, NY 12208 USA
[2] King Edward Med Univ, Internal Med, Lahore, Pakistan
[3] Allama Iqbal Med Coll, Internal Med, Lahore, Pakistan
[4] Albany Med Ctr, Pathol, Albany, NY USA
[5] Albany Med Ctr, Rheumatol, Albany, NY USA
来源：
CUREUS JOURNAL OF MEDICAL SCIENCE | 2023年 / 15卷 / 06期
关键词：
granulomatosis with polyangiitis (gpa); familial disease; genetic syndromes; anca associated vasculitis; auto immune; WEGENERS-GRANULOMATOSIS; VASCULITIDES;
D O I：
10.7759/cureus.40786
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Anti-neutrophil cytoplasm antibody (ANCA)-associated vasculitis (AAV) is a class of small vessel vasculitis that includes granulomatosis with polyangiitis (GPA), eosinophilic GPA (EGPA), and microscopic polyangiitis (MPA). Despite extensive research, the mechanisms behind AAV etiology remain obscure. The genetics of AAV is a complex area of investigation because of the rarity of familial cases. However, recent multi-center genome-wide association studies (GWAS) have greatly contributed to our understanding of the genetic basis of AAV. In this study, we report a rare occurrence of GPA in two Caucasian family members who presented with similar clinical symptoms and performed a comprehensive review to study the present literature available regarding the heritability of this disease.
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页数：8
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