GENETIC INFLUENCES IN THE AETIOLOGY OF FEMOROACETABULAR IMPINGEMENT: A SIBLING STUDY

Abstract

Introduction: Femoroacetabular impingement (FAI) causes pain in young adults and osteoarthritis. Genetic factors are important in the aetiology of osteoarthritis. We aimed to investigate the extent to which FAI has an underlying genetic basis, by studying the siblings of patients undergoing surgery for FAI and comparing them with controls.

Methods: 66 patients (probands, 29 male, 37 female, mean age 39.1 years) treated surgically for FAI provided siblings for the study. Probands were classified as having cam, pincer or mixed FAI. 101 siblings (55 male, 56 female, mean age 38.2 years) were recruited. The control group consisted of their 77 partners and was age and gender-matched. All subjects were assessed clinically and radiologically (standardised AP Pelvic and cross-table lateral radiographs of each hip). Radiographs were scored for the presence of osteoarthritis, and morphological abnormalities.

Participants were classified as:

1. Normal morphology, no clinical features

2. Abnormal morphology, no clinical features

3. Abnormal morphology, clinical signs but no symptoms

4. Abnormal morphology with symptoms and signs

5. Osteoarthritis.

Results: The sibling relative risks were significant for groups b, c, and d (ranging between 2–5, p< 0.01). Pro-bands and siblings shared the same pattern of abnormal morphology. Gender specificity was apparent: pincer abnormalities common in sisters but not in brothers. The brothers of probands with cam deformities almost universally demonstrated the same deformity, but only 50% of sisters did.

Discussion: Genetic influences are important in the aetiology of FAI. Whether the morphological abnormality is determined at conception or by an inherited predisposition to an acquired event during development warrants further study. Symptoms are variable, indicating a spectrum of disease progression. These cohorts present an opportunity to prospectively study the natural history of the condition, improve understanding of the mechanisms and pathology, and potentially to be recruited into clinical trials.