If three of my brothers have ankylosing spondylitis, why does the doctor say it is not necessarily hereditary? The meaning of risk in multiplex case families with ankylosing spondylitis.
OBJECTIVE
To investigate how patients with ankylosing spondylitis and their relatives in multiplex case families understand concepts of familial aggregation, heredity and risk perceptions, and its impact on decision-making.


METHODS
This is a multimethod clinical investigation using field research style in 34 individuals from 10 families with ≥2 members with ankylosing spondylitis covering a wide spectrum of disease severity, educational level, and economical status. The narratives of patients and their relatives were obtained using clinical information, unstructured observation, and personal interviews, which were then transcribed verbatim, coded, and analyzed by three investigators. The interpretation of the textual data was based on two analysis styles, immersion/crystallization and interpretative grounded theory.


RESULTS
We identified four broad interrelated interpretive units in patient and relatives narratives: (1) familial interpretation of the disease, (2) genetic risk, (3) decision-making based on risk, and (4) patient-family/physician discourse contradiction on the meaning of heredity.


CONCLUSIONS
Patient's and their relatives interpretation of familial aggregation, HLAB27, heredity, and risk perception in relation with ankylosing spondylitis involves four broad interpretive units spanning from clinical symptoms to heredity and decisions made accordingly. Their thoughts and consequent decisions are often in contradiction with the medical knowledge on the role of genetic factors in ankylosing spondylitis.
Rheumatology Unit, Hospital General de México, Mexico City, Mexico pelaezin@prodigy.net.mx.
Ingris
I
Peláez-Ballestas
Epidemiological and Psychosocial Research Division, Instituto Nacional de Psiquiatría Ramon de la Fuente Muñiz, México City, México Universidad Nacional Autónoma de Mexico, Faculty of Medicine, Mexico City, Mexico.
Martha
M
Romero-Mendoza
Rheumatology Unit, Hospital General de México, Mexico City, Mexico Universidad Nacional Autónoma de Mexico, Faculty of Medicine, Mexico City, Mexico.
Rubén
R
Burgos-Vargas
D000293:Adolescent; D000328:Adult; D000368:Aged; D003657:Decision Making; D005190:Family; D020022:Genetic Predisposition to Disease; D015796:HLA-B27 Antigen / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010817:Physician-Patient Relations; D018570:Risk Assessment; D012307:Risk Factors; D035781:Siblings; D013167:Spondylitis, Ankylosing / Q000235:genetics* / Q000523:psychology; D055815:Young Adult
D015796:HLA-B27 Antigen
Ankylosing spondylitis; HLA-B27; familial aggregation; medical anthropology; perception