J Korean Med Sci.  2014 Jun;29(6):782-787. 10.3346/jkms.2014.29.6.782.

Phenotype Difference between Familial and Sporadic Ankylosing Spondylitis in Korean Patients

• Kim HW
• Choe HR
• Lee SB
• Chang WI
• Chae HJ
• Moon JY
• Kang J
• Lee S
• Song YW
• Lee EY

• KMID: 1796939
• DOI: http://doi.org/10.3346/jkms.2014.29.6.782

Abstract

Clustered occurrences of ankylosing spondylitis (AS) in family have been noticed. We evaluated patients with AS confirmed by the modified New York criteria for familial history of AS (one or more first to third degree relatives). The clinical characteristics and the recurrence risks (number of AS patients/number of familial members) of the familial AS compared to sporadic AS were investigated. Out of a total of 204 AS patients, 38 patients (18.6%) reported that they had a familial history of AS. The recurrence risks in the familial AS patients for first, second and third degree family members were 14.5%, 5.2%, and 4.4% respectively. Erythrocyte sedimentation rate (ESR) (22.6+/-22.2 vs 35.4+/-34.4, P=0.029) and C-reactive protein (CRP) (1.24+/-1.7 vs 2.43+/-3.3, P=0.003) at diagnosis, body mass index (21.9+/-2.7 vs 23.7+/-3.3, P=0.002) and frequency of oligoarthritis (13.2% vs 33.7%, P=0.021) were significantly lower in the familial form. The presence of HLA-B27 (97.4% vs 83.1%, P=0.044) was significantly higher in familial AS. In conclusion, Korean familial AS patients show a lower frequency of oligoarthritis, lower BMI, lower ESR and CRP at diagnosis and higher presence of HLA-B27.

Keyword

Spondylitis, Ankylosing; Familial; Sporadic; Phenotype; Recurrence Risk

MeSH Terms

Adult
Age Factors
Arthritis, Juvenile/diagnosis/epidemiology
Blood Sedimentation
Body Mass Index
C-Reactive Protein/analysis
Demography
Family
Female
HLA-B27 Antigen/metabolism
Humans
Interviews as Topic
Male
Middle Aged
Phenotype
Recurrence
Republic of Korea
Risk Factors
Severity of Illness Index
Sex Factors
Spondylitis, Ankylosing/*diagnosis
HLA-B27 Antigen
C-Reactive Protein

Figure

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  Fig. 1 Recurrence risk of ankylosing spondylitis according to different type of familial degree. Population prevalence as a reference bar (0.1%-1.4%) was derived from the literature.

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  Fig. 2 Distribution of familial ankylosing spondylitis (AS) and sporadic AS according to BMI (body mass index) and CRP (C-reactive protein). Familial AS patients are distributed in low CRP/low BMI quadrant. CRP and BMI are significantly lower in the familial AS compared to sporadic AS.

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  Fig. 3 Age at disease onset in familial ankylosing spondylitis (AS) and sporadic AS. Age at disease onset is not significantly different in familial AS and sporadic AS and the peak age of disease development are within the 20s in both group.

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