Osteochondritis Dissecans Lesions in Family Members: Does a Positive Family History Impact Phenotypic Potency?

• Published in: Clinical orthopaedics and related research 2017-06, Vol.475 (6), p.1573-1580
• Main Authors: Gornitzky, Alex L., Mistovich, R. Justin, Atuahuene, Brittany, Storey, Eileen P., Ganley, Theodore J.
• Format: Article
• Language: English
• Subjects: Adolescent; Child; Child, Preschool; Conservative Orthopedics; Female; Genetic Predisposition to Disease; Humans; Infant; Infant, Newborn; Knee; Male; Medicine; Medicine & Public Health; Orthopedics; Osteochondritis Dissecans - genetics; Pedigree; Phenotype; Retrospective Studies; Sports Medicine; Surgery; Surgical Orthopedics; Symposium: The 3rd Annual Meeting of Pediatric Research in Sports Medicine (PRISM)
• ISSN: 0009-921X; 1528-1132
• DOI: 10.1007/s11999-016-5059-x

Background Although repetitive microtrauma and athletic overuse patterns are most commonly associated with osteochondritis dissecans (OCD), recent studies have identified a potential genetic predisposition for OCD. Several case series have documented family pedigrees that support autosomal-dominant inheritance, but the families in these studies were all selected as a result of unique histories that may not accurately represent OCD inheritance patterns at large. Because there has been little investigation beyond these case reports, we aimed to describe a broader, more representative pattern of OCD inheritance applicable to all affected patients. Questions/Purposes (1) What proportion of patients treated for OCD of the knee have one or more immediate and/or extended family members with a history of OCD lesions? (2) Do patients with more phenotypically potent lesions, which we defined as patients with bilateral OCD lesions or patients who have undergone multiple procedures for OCD, have a higher frequency of affected relatives than those with less potent lesions? Methods This retrospective study queried patient databases, diagnosis codes (International Classification of Diseases, 9th Revision), and surgical logs at a regional, tertiary care children’s hospital to identify all patients treated over a 10-year period (March 2004–March 2014) by the senior author for OCD of the knee. All patients aged 0–18 years at the time of diagnosis were included. At our institution, patients with intact lesions are treated with a trial of conservative therapy; conversely, patients with a break in the articular cartilage and/or loose fragments of bone/cartilage are treated surgically. There were no OCD-specific contraindications to surgery. This search identified 543 patients. After patient identification, a questionnaire was designed that asked for the number, age, and gender of all immediate family members and the history of OCD lesions in any family member (immediate or extended). For all positive family members, patients were further queried regarding relevant clinical details to affirm a history of OCD. Patients were contacted by mailed questionnaires and phone calls for survey completion. All 543 patients received the survey, of which 103 (19%) responded to it and were included here. Responders were approximately 1 year younger than nonresponders; there was no difference in gender distribution. A retrospective chart review was then conducted to collect demographic inform