Pathologic Lower Extremity Fractures in Children With Alagille Syndrome

• Published in: Journal of pediatric gastroenterology and nutrition Vol. 51; no. 1; pp. 66 - 70
• Main Authors: Bales, Christina B, Kamath, Binita M, Munoz, Pedro S, Nguyen, Alexander, Piccoli, David A, Spinner, Nancy B, Horn, David, Shults, Justine, Leonard, Mary B, Grimberg, Adda, Loomes, Kathleen M
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 01.07.2010
• Subjects: Adolescent; Adult; Age Factors; Alagille syndrome; Alagille Syndrome - complications; Alagille Syndrome - genetics; Biological and medical sciences; Child; Child, Preschool; Feeding. Feeding behavior; Female; fracture; Fractures, Spontaneous - etiology; Fractures, Spontaneous - genetics; Fundamental and applied biological sciences. Psychology; Gastroenterology. Liver. Pancreas. Abdomen; Health Surveys; Humans; Incidence; Infant; Injuries of the limb. Injuries of the spine; Liver. Biliary tract. Portal circulation. Exocrine pancreas; Lower Extremity - injuries; Male; Medical sciences; osteomalacia; Other diseases. Semiology; Retrospective Studies; Risk Factors; Traumas. Diseases due to physical agents; Vertebrates: anatomy and physiology, studies on body, several organs or systems; Young Adult; Human; Pathologic fracture; Portal circulation disease; Alagille syndrome; Diseases of the osteoarticular system; Nutrition disorder; Vitamin deficiency; Cardiovascular disease; Arteriohepatic dysplasia; Metabolic diseases; Lower extremity; fracture; Vascular disease; Metabolic disorder; Vitamin D; Gastroenterology; Digestive diseases; Bone; Osteomalacia; Child; Nutritional status
• DOI: 10.1097/MPG.0b013e3181cb9629
• ISSN: 0277-2116

ABSTRACT Objectives: In this retrospective study, we aimed to determine the incidence and distribution of fractures in patients with Alagille syndrome, 1 of the leading inherited causes of pediatric cholestatic liver disease. Materials and Methods: Surveys regarding growth, nutrition, and organ involvement were distributed to patient families in the Alagille Syndrome Alliance of the Children's Hospital of Philadelphia research database. Patients with a history of fracture were identified by their response to 1 question, and details characterizing each patient's medical, growth, and fracture history were obtained through chart review and telephone contact. Results: Twelve of 42 patients (28%) reported a total of 27 fractures. Patients experienced fractures at a mean age of 5 years, which contrasts with healthy children, in whom fracture incidence peaks in adolescence. Fractures occurred primarily in the lower extremity long bones (70%) and with little or no trauma (84%). Estimated incidence rate calculations yielded 399.6 total fractures per 10,000 person‐years (95% confidence interval 206.5, 698.0) and 127.6 femur fractures per 10,000 person‐years (95% confidence interval 42.4, 297.7). There were no differences in sex, age distribution, or organ system involvement between the fracture and no‐fracture groups. Conclusions: Children with Alagille syndrome may be at risk for pathologic fractures, which manifest at an early age and in a unique distribution favoring the lower extremity long bones. Although this preliminary study is limited by small sample size and potential ascertainment bias, the data suggest that larger studies are warranted to further characterize fracture risk and explore factors contributing to bone fragility in these children.