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.