No correlation to collagen synthesis disorders in patients with Perthes' disease: a nationwide Swedish register study of 3488 patients

• Published in: BMC musculoskeletal disorders 2024-01, Vol.25 (1), p.42-42, Article 42
• Main Authors: Lindblad, M, Bladh, M, Björnsson-Hallgren, H, Sydsjö, G, Johansson, T
• Format: Article
• Language: English
• Subjects: Adolescent; Analysis; Birth characteristics; Birth weight; Care and treatment; Cartilage; Case reports; Child; Children; Children & youth; COL2A1; Collagen; Collagen (type II); Collagen synthesis disorder; Diagnosis; Emotions; Gene mutations; Genetic aspects; Gestational Age; Health aspects; Humans; Infant, Newborn; Legg-Calve-Perthes disease; Legg-Calve-Perthes Disease - epidemiology; Legg-Calve-Perthes Disease - genetics; Medical research; Medicine, Experimental; Musculoskeletal system; Mutation; Osteochondrosis; Osteonecrosis of the hip; Patients; Perthes’ disease; Sweden - epidemiology
• ISSN: 1471-2474; 1471-2474
• DOI: 10.1186/s12891-023-07161-8

Mutations of the COL2A1 gene have been identified in patients with Perthes' disease. Several studies have hypothesised a connection between Perthes' disease and collagen synthesis disorders, especially COL2A1-related disorders, but no large studies on the subject have been made. The aim of this study was thus to discover if there is a connection between patients presenting with Perthes' disease, and collagen synthesis disorders. A secondary aim was to see if the children with both disorders had less optimal birth characteristics than the rest. Swedish national registers were used to collect data on children diagnosed with Perthes' disease or a collagen synthesis disorder. These registers include all births in Sweden, and data from both outpatient and in-hospital visits. A wide range of data is included besides diagnoses. All children with follow-up data to the age of 15 years were included. Pearson's chi-square was used for analysis. Statistical significance was further analysed with Fisher's Exact Test. In total, 3488 children with either diagnosis were included. 1620 children had only Perthes disease, while 1808 children had only a collagen synthesis disorder. Five children were found to have both the diagnosis Perthes' disease and a collagen synthesis disorder. One child was large for their gestational age and none of the children had a low birthweight. Two of the children were moderately preterm. The distinct lack of overlap in such a large body of material raises doubt about a connection between the presentation of Perthes' disease and collagen synthesis disorders, either COL2A1-related or not. We could not find an overrepresentation of less optimal birth characteristics either.