systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease that may

involve many different organs and display a variable clinical course. The diagnosis of
SLE is based on characteristic clinical findings of the skin, joints, kidneys, and the
central nervous system, as well as on serological parameters such as antinuclear
antibodies (AN A), in particular antibodies to dsDN A (e1). The various clinical
symptoms do not always occur simultaneously and may develop at any stage of the
disease. In the early stages, physicians from various disciplines often propose several
differential diagnoses, or identify only one aspect of the disease without recognizing the
symptoms as part of SLE (1, e2). Fever, fatigue, and arthralgia are the most frequently
occurring nonspecific symptoms at disease onset; additional joint swelling or a "butterfly
rash"particularly in women of childbearing ageshould prompt consideration of SLE
(2).<Diagnosis>
Siblings of SLE patients are approximately 30 times more likely to develop SLE
compared with individuals without an aff ected sibling. Th e rate of gene discovery in
SLE has increased during the past few years thanks to large genome-wide association
studies (GWAS) using hundreds of thousands of single nucleotide polymorphism (SNP)
markers (fi gure 2). GWAS in lupus have confirmed the importance of genes associated
with immune response and infl ammation
Seseorang yang memiliki keturunan SLE memiliki kemungkinan 30 kali lebih besar
menderita SLE dibanding seseorang yang tidak mempunyai keturunan SLE. Angka
diatas didapatkan dari studi GWAS (genome wide association studies) yang
menggunakan seratus ribu marker nuceatida polimorfis tungal (SNP). GWAS di lupus
telah mengkonfirmasi pentingnya gen yang berhubungan dengan respons imun dan anti
inflamasi

Figure 2

Figure 3
(HLA-DR, PTPN22, STAT4, IRF5, BLK, OX40L, FCGR2A, BANK1, SPP1, IRAK1,
TNFAIP3, C2, C4, CIq, PXK), DNA repairs (TREX1), adherence of infl ammatory cells to
the endothelium (ITGAM), and tissue response to injury (KLK1,KLK3). Th ese findings
highlight the importance of Toll-like receptor (TLR) and type 1 interferon (IFN) signaling
pathways. Some of the genetic loci may explain not only the susceptibility to disease but
also its severity. For instance, STAT4, a genetic risk factor for rheumatoid arthritis and
SLE, is associated with severe SLE. One of the key components of these pathways is
TNFAIP3, which has been implicated in at least six autoimmune disorders, including
SLE.
(HLA-DR, PTPN22, STAT4, IRF5, BLK, OX40L, FCGR2A, BANK1, SPP1, IRAK1,
TNFAIP3, C2, C4, CIq, PXK), DNA repairs (TREX1), adherence of infl ammatory cells to
the endothelium (ITGAM), and tissue response to injury (KLK1,KLK3). Penemuan ini
menunjukan pentingnya Toll-like receptor (TLR) dan tipe 1 interferon (IFN) signaling
pathways. Salah satu komponen penting dari pathway ini adalah TNFAIP3, yang akan
berimplikasi dengan sedikitnya 6 penyakit autoimun termasuk SLE
Belum terdapat data epidemiologi SLE yang mencakup semua wilayah Indonesia. Data
tahun 2002 di RSUP Cipto Mangunkusumo (RSCM) Jakarta, didapatkan 1,4% kasus
SLE dari total kunjungan pasien di poliklinik Reumatologi Penyakit Dalam, sementara di
RS Hasan Sadikin Bandung terdapat 291 Pasien SLE atau 10.5% dari total pasien yang
berobat ke poliklinik reumatologi selama tahun 2010. Survival rate SLE berkisar antara
70-85% dalam 5-10 tahun pertama dan 53-64% setelah 20 tahun menderita SLE.
Mortalitas akibat penyakit SLE ini 3-5 kali lebih tinggi dibandingkan populasi umum.8-10
Di RSCM survival rate 5 tahun pasien SLE adalah 88% dari pengamatan terhadap 108
orang pasien SLE yang berobat dari tahun 1990-2002.Pada beberapa tahun pertama

mortalitas SLE berkaitan dengan aktivitas penyakit dan infeksi seperti infeksi M.
tuberculosis, virus, jamur dan protozoa, sedangkan dalam jangka panjang
berkaitan dengan penyakit vascular aterosklerosis