Clinical Guidance

The severity of COL1A1- and COL1A2-related osteogenesis imperfecta (COL1A1/COL1A2-OI) ranges from perinatal lethality; individuals with severe skeletal deformities, mobility impairments, and very short stature; to nearly asymptomatic individuals with a mild predisposition to fractures, normal stature, and normal life span. COL1A1/COL1A2-OI has been historically classified into four more common types based on clinical presentation, radiographic features, family history, and natural history . An update of the Sillence classification has been proposed and has gained some acceptance .

Diagnostic Criteria

Suggestive Findings COL1A1- and COL1A2-related osteogenesis imperfecta (COL1A1/COL1A2-OI) should be suspected in individuals with the following clinical, radiographic, and laboratory findings and family history. Clinical findings (See .) • Fractures with minimal or no trauma in the absence of other factors, such as non-accidental trauma (NAT) or other known bone disorders • Short stature or stature shorter than predicted based on stature of unaffected family members, often with bone deformity • Blue/gray scleral hue • Dentinogenesis imperfecta (DI) • Progressive, postpubertal hearing loss • Ligamentous laxity and other signs of connective tissue abnormality Table 1. COL1A1- and COL1A2-Related Osteogenesis Imperfecta: Clinical Findings by Type

Management Guidelines

No clinical practice guidelines for COL1A1- and COL1A2-related osteogenesis imperfecta (COL1A1/COL1A2-OI) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs of an individual diagnosed with COL1A1/COL1A2-OI, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, a multidisciplinary approach is recommended . Health care needs change with age and based on individual circumstances, so each individual might have different needs across their life span. Comorbidities are more common in adults than in children, so adults might require more extensive and frequent follow up .

Table 10.

COL1A1- and COL1A2-Related Osteogenesis Imperfecta: Recommended Surveillance