1. Serum osteocalcin level is associated with the mortality in Chinese patients with Fibrodysplasia ossificans progressiva aged ≤18 years at diagnosis.
- Author
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She D, Li R, Fang P, Zong G, Xue Y, and Zhang K
- Subjects
- Activin Receptors, Type I genetics, Adolescent, Alkaline Phosphatase blood, Child, Child, Preschool, China epidemiology, Female, Follow-Up Studies, Humans, Infant, Infant, Newborn, Male, Mortality, Mutation, Myositis Ossificans blood, Myositis Ossificans diagnosis, Ossification, Heterotopic blood, Ossification, Heterotopic diagnosis, Rare Diseases blood, Rare Diseases diagnosis, Rare Diseases epidemiology, Rare Diseases mortality, Retrospective Studies, Myositis Ossificans epidemiology, Myositis Ossificans mortality, Ossification, Heterotopic epidemiology, Ossification, Heterotopic mortality, Osteocalcin blood
- Abstract
Background: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by extraskeletal heterotopic ossification. It is well recognized that FOP can lead to a devastating condition of disability. However, the mortality rate of FOP patients in China and risk factors for mortality are still largely unclear., Methods: We conducted a retrospective research on a cohort of 65 cases of FOP patients in China from 2008 to 2018. We reviewed medical records of these FOP patients to retrieve information such as date of birth/death, gender, clinical features, genotypes and biochemical parameters and analyze the correlation of these parameters with the mortality., Results: 92.3% (60/65 cases) patients were classic FOP patients, 3.1% (2/65 cases) were FOP-plus and 4.6% (3/65 cases) were FOP variants. 9 cases of this cohort were dead during the ten-year period, and the overall mortality rate was 13.8%. c.617G > A mutation was confirmed in all non-survivors. In FOP patients≤18 years at diagnosis, non-survivors demonstrated significantly lower blood osteocalcin and alkaline phosphatase levels compared with survivors (P < 0.05), and spearman correlation and logistic regression analysis indicated that serum osteocalcin and alkaline phosphatase levels were negatively correlated with the mortality. Furthermore, the receiver-operating characteristic curve analysis showed serum osteocalcin had the largest area under the curve of 0.855 among four biochemical parameters, and serum osteocalcin < 65.9 ng/ml displayed a good capacity to discriminate the non-survivors from survivors in FOP patients aged 18 years and younger at diagnosis., Conclusions: Our findings showed that the mortality rate of FOP was 13.8% in China. Serum OC level was negatively correlated with the mortality in Chinese FOP patients ≤18 years at diagnosis.
- Published
- 2020
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