Fibrogenesis Imperfecta Ossium: Clinical Approach to Diagnosis and Management of a Rare Skeletal Disorder

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The Journal of clinical endocrinology and metabolism


CONTEXT: Fibrogenesis imperfecta ossium (FIO) is a rare and progressive skeletal bone disorder of undetermined etiology. Given its FIO, the pathogenesis of FIO remains elusive and no effective treatment exists. Based on review of all published cases and our collective experience of FIO, we offer a comprehensive approach for the diagnosis and management of this complex and fatal disorder.

EVIDENCE ACQUISITION: A review of electronic and print medical literature comprising case reports and articles retrieved from PubMed database up to March 2018 was conducted using the search term "fibrogenesis imperfecta". In addition, references from retrieved case reports and articles were screened for articles containing information on FIO and differential diagnoses.

EVIDENCE SYNTHESIS: Twenty-six articles containing information concerning twenty-nine cases were identified. We reviewed the clinical and pathophysiologic features of all published cases. Comprehensive information on FIO is lacking in the literature. Diagnostic approach, in an attempt to gain insight into the disease, differed depending on the advancements in science and tools available at the time of patient identification. The response to various treatments used has been widely variable.

CONCLUSION: The dearth of information on FIO and low index of suspicion may lead to delayed or missed diagnoses and management. The fundamental skeletal defect appears to be an abnormality in organic matrix of bone characterized by defective mineralization of the abnormal collagen. Research focused on the identification of pathogenetic factors is needed. Albeit, long-term outcomes of growth hormone therapy are yet to be ascertained, short-term effectiveness appears promising.

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ePub ahead of print