The Study of Laboratory Tests and Clinical Characteristics of Systemic Lupus Erythematosus Subtype Based on a SLE Family_Chinese Journal of Evidence-Based Medicine

Authors：

 ZHANGRu-ke ¹ , LILi-xin ¹ , CAIBei ¹ , HUANGZhuo-chun ¹ , TANChun-yu ² ,  WUYong-kang ¹

1. Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu 610041, China;
2. Department of Rheumatism, West China Hospital, Sichuan University, Chengdu 610041, China;

Corresponding author：

WUYong-kang, Email: vipwyk@163.com

Keywords：

Systemic lupus erythematosus; Laboratory tests; Model; Clinical characteristics; Individualization

DOI：

10.7507/1672-2531.20160155

Video：

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Objective Systemic lupus erythematosus (SLE) patients from a SLE family with homogeneity can provide experimental basis for individualized diagnosis and treatment by studying the characteristics of laboratory tests and symptoms. Methods Laboratory tests were analyzed for three SLE patients in the family, and set up the screen model by three laboratory tests (anitnuclear antibody positive, rheumatoid factor positive and IgE positive, ANA+RF+IgE+). All SLE cases were screened from latest four years as SLE subtype patients (named "similar family SLE patients"), then the family laboratory tests and clinical characteristics were analyzed. Results A total of 55 patients (6.27%) were screened as similar family SLE patients from individual SLE patients according to model from 877 cases. The laboratory tests of similar family SLE patients including creatinine, WBC, CRP were significant lower than other SLE patients (P < 0.05), but significant higher for the IgG, positive rate of anti-SSA and anti-SSB (P < 0.05), and the alopecia and skin rashes were more common in similar family SLE patients than other SLE patients. Conclusions The ANA+RF+IgE+ SLE patients are of lower inflammatory state and kidney involvement; Clinical symptom is priority to alopecia and skin rashes.

Citation： ZHANGRu-ke, LILi-xin, CAIBei, HUANGZhuo-chun, TANChun-yu, WUYong-kang. The Study of Laboratory Tests and Clinical Characteristics of Systemic Lupus Erythematosus Subtype Based on a SLE Family. Chinese Journal of Evidence-Based Medicine, 2016, 16(9): 1006-1013. doi: 10.7507/1672-2531.20160155 Copy

1.	Beccastrini E, D'Elios MM, Emmi G, et al. Systemic lupus erythematosus: immunopathogenesis and novel therapeutic targets. Int J Immunopathol Pharmacol, 2013, 26(3): 585-596.
2.	Garcia M, Colombani-Vidal ME, Zylbersztein CC, et al. Analysis of molecular heterogeneity of prolactin in human systemic lupus erythematosus. Lupus, 2004, 13(8): 575-583.
3.	Kronbichler A, Mayer G. Renal involvement in autoimmune connective tissue diseases. BMC Med, 2013, 11: 95.
4.	Amezcua-Guerra LM, Higuera-Ortiz V, Arteaga-Garcia U, et al. Performance of the 2012 Systemic Lupus International Collaborating Clinics and the 1997 American College of Rheumatology classification criteria for systemic lupus erythematosus in a real-life scenario. Arthritis Care Res (Hoboken), 2015, 67(3): 437-441.
5.	Zhou L, Lu G, Shen L, et al. Serum levels of three angiogenic factors in systemic lupus erythematosus and their clinical significance. Biomed Res Int, 2014, 2014: 627126.
6.	Urowitz M, Gladman DD, Ibanez D, et al. Changes in quality of life in the first 5 years of disease in a multicenter cohort of patients with systemic lupus erythematosus. Arthritis Care Res (Hoboken), 2014, 66(9): 1374-1379.
7.	Marion TN, Postlethwaite AE. Chance, genetics, and the heterogeneity of disease and pathogenesis in systemic lupus erythematosus. Semin Immunopathol, 2014, 36(5): 495-517.
8.	Perkins K, Hoffman RW, Bezruczko N. A Rasch analysis for classification of systemic lupus erythematosus and mixed connective tissue disease. J Appl Meas, 2008, 9(2): 136-150.
9.	J de AS, C A, P SG, et al. Systemic Lupus Erythematosus: Old and New Susceptibility Genes versus Clinical Manifestations. Curr Genomics, 2014, 15(1): 52-65.
10.	Zhang Z, Kyttaris VC, Tsokos GC. The role of IL-23/IL-17 axis in lupus nephritis. J Immunol, 2009, 183(5): 3160-3169.
11.	Han GM, Chen SL, Shen N, et al. Analysis of gene expression profiles in human systemic lupus erythematosus using oligonucleotide microarray. Genes Immun, 2003, 4(3): 177-186.
12.	Liphaus BL, Jesus AA, Silva CA, et al. Increased IgE serum levels are unrelated to allergic and parasitic diseases in patients with juvenile systemic lupus erythematosus. Clinics (Sao Paulo), 2012, 67(11): 1275-1280.
13.	彭俊华, 张华欣, 齐心亮, 等. 143例系统性红斑狼疮的自身抗体和常规检查分析.甘肃科学学报, 2009, (01): 53-56.
14.	Liu J, Ye Y, Hu Z, et al. A hypersensitive biotin-avidin-TRFIA for quantitative detection of ANA-Ig(GAM) and its clinical application. J Immunoassay Immunochem, 2013, 34(2): 197-207.
15.	Callen JP, 严安节.红斑狼疮亚型的临床、血清学及免疫学.国外医学·皮肤病学分册, 1987, (5): 273-277.
16.	Ganczarczyk L, Urowitz MB, Gladman DD. "Latent lupus". J Rheumatol, 1989, 16(4): 475-478.
17.	Ni J, Liu J, Leng RX, et al. Genetic Polymorphism (rs329498) in the Pellino-1 Gene as Possible Predisposal Factor for Systemic Lupus Erythematosus in a Chinese Population. Immunol Invest, 2016, 45(3): 181-190.
18.	Liu J, Liu J, Ni J, et al. Association of UBASH3A gene polymorphisms and systemic lupus erythematosus in a Chinese population. Gene, 2015, 565(1): 116-121.
19.	Pandhi D, Verma P, Singal A, et al. Atypical lupus erythematosus panniculitis progressing to antinuclear antibody-negative systemic lupus erythematosus. J Cutan Med Surg, 2012, 16(5): 361-364.
20.	Deapen D, Escalante A, Weinrib L, et al. A revised estimate of twin concordance in systemic lupus erythematosus. Arthritis Rheum, 1992, 35(3): 311-318.
21.	宋爱华.系统性红斑狼疮皮损中CD4~+、CD8~+细胞和血清黏附因子的表达及临床意义.河北医药, 2013, (22): 3491-3492.
22.	Wu YK, Huang ZC, Shi YY, et al. Systemic Lupus Erythematosus (SLE) Risk Factors: Novel Proteins Detected From Familial SLE Using Proteomics. Labmedicine, 2009, 40(7): 408-411.
23.	Huang ZC, Shi YY, Cai B, et al. MALDI-TOF MS combined with magnetic beads for detecting serum protein biomarkers and establishment of boosting decision tree model for diagnosis of systemic lupus erythematosus. Rheumatology, 2009, 48(6): 626-631.
24.	Arbuckle MR, McClain MT, Rubertone MV, et al. Development of autoantibodies before the clinical onset of systemic lupus erythematosus. New Engl J Med, 2003, 349(16): 1526-1533.
25.	Gonzalez C, Guevara P, Alarcon I, et al. Antinuclear antibodies (ANA) screening by enzyme immunoassay with nuclear HEp-2 cell extract and recombinant antigens: analytical and clinical evaluation. Clin Biochem, 2002, 35(6): 463-469.
26.	Hietikko E, Sorri M, Mannikko M, et al. Higher Prevalence of Autoimmune Diseases and Longer Spells of Vertigo in Patients Affected With Familial Meniere's Disease: A Clinical Comparison of Familial and Sporadic Meniere's Disease. Am J Audiol, 2014, 23(2): 232-237.
27.	Zhernakova A, van Diemen CC, Wijmenga C. Detecting shared pathogenesis from the shared genetics of immune-related diseases. Nat Rev Genet, 2009, 10(1): 43-55.
28.	Cotsapas C, Voight BF, Rossin E, et al. Pervasive Sharing of Genetic Effects in Autoimmune Disease. Plos Genet, 2011, 7(8): e1002254.
29.	Ramos PS, Kelly JA, Gray-McGuire C, et al. Familial aggregation and linkage analysis of autoantibody traits in pedigrees multiplex for systemic lupus erythematosus. Genes Immun, 2006, 7(5): 417-432.
30.	Liphaus BL, Kiss MHB. The Role of Apoptosis Proteins and Complement Components in the Etiopathogenesis of Systemic Lupus Erythematosus. Clinics, 2010, 65(3): 327-333.
31.	Atta AM, Sousa CP, Carvalho EM, et al. Immunoglobulin E and systemic lupus erythematosus. Braz J Med Biol Res, 2004, 37(10): 1497-1501.
32.	Atta AM, Santiago MB, Guerra FG, et al. Autoimmune Response of IgE Antibodies to Cellular Self-Antigens in Systemic Lupus Erythematosus. Int Arch Allergy Imm, 2010, 152(4): 401-406.
33.	Geha RS. Regulation of IgE synthesis in humans. J Allergy Clin Immunol, 1992, 90(2): 143-150.
34.	Chowdhary VR, Crowson CS, Poterucha JJ, et al. Liver involvement in systemic lupus erythematosus: case review of 40 patients. J Rheumatol, 2008, 35(11): 2159-2164.
35.	Hayata ALS, Borba EF, Bonfa E, et al. The frequency of high/moderate lipoprotein risk factor for coronary artery disease is significant in juvenile-onset systemic lupus erythematosus. Lupus, 2005, 14(8): 613-617.
36.	Hedrich CM, Zappel H, Straub S, et al. Early onset systemic lupus erythematosus: differential diagnoses, clinical presentation, and treatment options. Clin Rheumatol, 2011, 30(2): 275-283.
37.	Zabaleta-Lanz ME, Munoz LE, Tapanes FJ, et al. Further description of early clinically silent lupus nephritis. Lupus, 2006, 15(12): 845-851.
38.	Zhang M, Cao X, Cai G, et al. Clinical evaluation of serum cystatin C and creatinine in patients with chronic kidney disease: a meta-analysis. J Int Med Res, 2013, 41(4): 944-955.
39.	Papadaki HA, Boumpas DT, Gibson FM, et al. Increased apoptosis of bone marrow CD34(+) cells and impaired function of bone marrow stromal cells in patients with systemic lupus erythematosus. Br J Haematol, 2001, 115(1): 167-174.
40.	Janko C, Franz S, Munoz LE, et al. CRP/anti-CRP antibodies assembly on the surfaces of cell remnants switches their phagocytic clearance toward inflammation. Front Immunol, 2011, 2: 70.
41.	Zhao Y, Zhang B, Caulloo S, et al. Diffuse alopecia areata is associated with intense inflammatory infiltration and CD8+ T cells in hair loss regions and an increase in serum IgE level. Indian J Dermatol Venereol Leprol, 2012, 78(6): 709-714.
42.	Walling HW, Sontheimer RD. Cutaneous lupus erythematosus: issues in diagnosis and treatment. Am J Clin Dermatol, 2009, 10(6): 365-381.

1. Beccastrini E, D'Elios MM, Emmi G, et al. Systemic lupus erythematosus: immunopathogenesis and novel therapeutic targets. Int J Immunopathol Pharmacol, 2013, 26(3): 585-596.
2. Garcia M, Colombani-Vidal ME, Zylbersztein CC, et al. Analysis of molecular heterogeneity of prolactin in human systemic lupus erythematosus. Lupus, 2004, 13(8): 575-583.
3. Kronbichler A, Mayer G. Renal involvement in autoimmune connective tissue diseases. BMC Med, 2013, 11: 95.
4. Amezcua-Guerra LM, Higuera-Ortiz V, Arteaga-Garcia U, et al. Performance of the 2012 Systemic Lupus International Collaborating Clinics and the 1997 American College of Rheumatology classification criteria for systemic lupus erythematosus in a real-life scenario. Arthritis Care Res (Hoboken), 2015, 67(3): 437-441.
5. Zhou L, Lu G, Shen L, et al. Serum levels of three angiogenic factors in systemic lupus erythematosus and their clinical significance. Biomed Res Int, 2014, 2014: 627126.
6. Urowitz M, Gladman DD, Ibanez D, et al. Changes in quality of life in the first 5 years of disease in a multicenter cohort of patients with systemic lupus erythematosus. Arthritis Care Res (Hoboken), 2014, 66(9): 1374-1379.
7. Marion TN, Postlethwaite AE. Chance, genetics, and the heterogeneity of disease and pathogenesis in systemic lupus erythematosus. Semin Immunopathol, 2014, 36(5): 495-517.
8. Perkins K, Hoffman RW, Bezruczko N. A Rasch analysis for classification of systemic lupus erythematosus and mixed connective tissue disease. J Appl Meas, 2008, 9(2): 136-150.
9. J de AS, C A, P SG, et al. Systemic Lupus Erythematosus: Old and New Susceptibility Genes versus Clinical Manifestations. Curr Genomics, 2014, 15(1): 52-65.
10. Zhang Z, Kyttaris VC, Tsokos GC. The role of IL-23/IL-17 axis in lupus nephritis. J Immunol, 2009, 183(5): 3160-3169.
11. Han GM, Chen SL, Shen N, et al. Analysis of gene expression profiles in human systemic lupus erythematosus using oligonucleotide microarray. Genes Immun, 2003, 4(3): 177-186.
12. Liphaus BL, Jesus AA, Silva CA, et al. Increased IgE serum levels are unrelated to allergic and parasitic diseases in patients with juvenile systemic lupus erythematosus. Clinics (Sao Paulo), 2012, 67(11): 1275-1280.
13. 彭俊华, 张华欣, 齐心亮, 等. 143例系统性红斑狼疮的自身抗体和常规检查分析.甘肃科学学报, 2009, (01): 53-56.
14. Liu J, Ye Y, Hu Z, et al. A hypersensitive biotin-avidin-TRFIA for quantitative detection of ANA-Ig(GAM) and its clinical application. J Immunoassay Immunochem, 2013, 34(2): 197-207.
15. Callen JP, 严安节.红斑狼疮亚型的临床、血清学及免疫学.国外医学·皮肤病学分册, 1987, (5): 273-277.
16. Ganczarczyk L, Urowitz MB, Gladman DD. "Latent lupus". J Rheumatol, 1989, 16(4): 475-478.
17. Ni J, Liu J, Leng RX, et al. Genetic Polymorphism (rs329498) in the Pellino-1 Gene as Possible Predisposal Factor for Systemic Lupus Erythematosus in a Chinese Population. Immunol Invest, 2016, 45(3): 181-190.
18. Liu J, Liu J, Ni J, et al. Association of UBASH3A gene polymorphisms and systemic lupus erythematosus in a Chinese population. Gene, 2015, 565(1): 116-121.
19. Pandhi D, Verma P, Singal A, et al. Atypical lupus erythematosus panniculitis progressing to antinuclear antibody-negative systemic lupus erythematosus. J Cutan Med Surg, 2012, 16(5): 361-364.
20. Deapen D, Escalante A, Weinrib L, et al. A revised estimate of twin concordance in systemic lupus erythematosus. Arthritis Rheum, 1992, 35(3): 311-318.
21. 宋爱华.系统性红斑狼疮皮损中CD4~+、CD8~+细胞和血清黏附因子的表达及临床意义.河北医药, 2013, (22): 3491-3492.
22. Wu YK, Huang ZC, Shi YY, et al. Systemic Lupus Erythematosus (SLE) Risk Factors: Novel Proteins Detected From Familial SLE Using Proteomics. Labmedicine, 2009, 40(7): 408-411.
23. Huang ZC, Shi YY, Cai B, et al. MALDI-TOF MS combined with magnetic beads for detecting serum protein biomarkers and establishment of boosting decision tree model for diagnosis of systemic lupus erythematosus. Rheumatology, 2009, 48(6): 626-631.
24. Arbuckle MR, McClain MT, Rubertone MV, et al. Development of autoantibodies before the clinical onset of systemic lupus erythematosus. New Engl J Med, 2003, 349(16): 1526-1533.
25. Gonzalez C, Guevara P, Alarcon I, et al. Antinuclear antibodies (ANA) screening by enzyme immunoassay with nuclear HEp-2 cell extract and recombinant antigens: analytical and clinical evaluation. Clin Biochem, 2002, 35(6): 463-469.
26. Hietikko E, Sorri M, Mannikko M, et al. Higher Prevalence of Autoimmune Diseases and Longer Spells of Vertigo in Patients Affected With Familial Meniere's Disease: A Clinical Comparison of Familial and Sporadic Meniere's Disease. Am J Audiol, 2014, 23(2): 232-237.
27. Zhernakova A, van Diemen CC, Wijmenga C. Detecting shared pathogenesis from the shared genetics of immune-related diseases. Nat Rev Genet, 2009, 10(1): 43-55.
28. Cotsapas C, Voight BF, Rossin E, et al. Pervasive Sharing of Genetic Effects in Autoimmune Disease. Plos Genet, 2011, 7(8): e1002254.
29. Ramos PS, Kelly JA, Gray-McGuire C, et al. Familial aggregation and linkage analysis of autoantibody traits in pedigrees multiplex for systemic lupus erythematosus. Genes Immun, 2006, 7(5): 417-432.
30. Liphaus BL, Kiss MHB. The Role of Apoptosis Proteins and Complement Components in the Etiopathogenesis of Systemic Lupus Erythematosus. Clinics, 2010, 65(3): 327-333.
31. Atta AM, Sousa CP, Carvalho EM, et al. Immunoglobulin E and systemic lupus erythematosus. Braz J Med Biol Res, 2004, 37(10): 1497-1501.
32. Atta AM, Santiago MB, Guerra FG, et al. Autoimmune Response of IgE Antibodies to Cellular Self-Antigens in Systemic Lupus Erythematosus. Int Arch Allergy Imm, 2010, 152(4): 401-406.
33. Geha RS. Regulation of IgE synthesis in humans. J Allergy Clin Immunol, 1992, 90(2): 143-150.
34. Chowdhary VR, Crowson CS, Poterucha JJ, et al. Liver involvement in systemic lupus erythematosus: case review of 40 patients. J Rheumatol, 2008, 35(11): 2159-2164.
35. Hayata ALS, Borba EF, Bonfa E, et al. The frequency of high/moderate lipoprotein risk factor for coronary artery disease is significant in juvenile-onset systemic lupus erythematosus. Lupus, 2005, 14(8): 613-617.
36. Hedrich CM, Zappel H, Straub S, et al. Early onset systemic lupus erythematosus: differential diagnoses, clinical presentation, and treatment options. Clin Rheumatol, 2011, 30(2): 275-283.
37. Zabaleta-Lanz ME, Munoz LE, Tapanes FJ, et al. Further description of early clinically silent lupus nephritis. Lupus, 2006, 15(12): 845-851.
38. Zhang M, Cao X, Cai G, et al. Clinical evaluation of serum cystatin C and creatinine in patients with chronic kidney disease: a meta-analysis. J Int Med Res, 2013, 41(4): 944-955.
39. Papadaki HA, Boumpas DT, Gibson FM, et al. Increased apoptosis of bone marrow CD34(+) cells and impaired function of bone marrow stromal cells in patients with systemic lupus erythematosus. Br J Haematol, 2001, 115(1): 167-174.
40. Janko C, Franz S, Munoz LE, et al. CRP/anti-CRP antibodies assembly on the surfaces of cell remnants switches their phagocytic clearance toward inflammation. Front Immunol, 2011, 2: 70.
41. Zhao Y, Zhang B, Caulloo S, et al. Diffuse alopecia areata is associated with intense inflammatory infiltration and CD8+ T cells in hair loss regions and an increase in serum IgE level. Indian J Dermatol Venereol Leprol, 2012, 78(6): 709-714.
42. Walling HW, Sontheimer RD. Cutaneous lupus erythematosus: issues in diagnosis and treatment. Am J Clin Dermatol, 2009, 10(6): 365-381.

Chinese Journal of Evidence-Based Medicine

The Study of Laboratory Tests and Clinical Characteristics of Systemic Lupus Erythematosus Subtype Based on a SLE Family

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