Abstract
BackgroundFibrodysplasia 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.MethodsWe 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.Results92.3% (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.ConclusionsOur 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.
Highlights
Fibrodysplasia ossificans progressiva (FOP) (Mendelian Inheritance in Man [MIM] #135100), known as myositis ossificans progressiva, is a rare genetic disease characterizedShe et al BMC Musculoskeletal Disorders (2020) 21:152FOP is an extremely rare disease with prevalence of 1 case in 2 millions in the world [3]
Clinical features of FOP patients 65 cases of FOP individuals recruited in our study were all Han people from 25 provinces of China. 46.2% (30/65 cases) were male while 53.8% (35/65 cases) were female
According to criterion of classification, 92.3% (60/65 cases) patients were diagnosed as classic FOP patients based on classic defining features of FOP, 3.1% (2/65 cases) of individuals were FOP-plus since they had classic defining features of FOP and other atypical features such as cryptorchidism or childhood glaucoma, and 4.6% (3/65 cases) were determined as FOP variants for their mild malformations of great toes
Summary
Fibrodysplasia ossificans progressiva (FOP) (Mendelian Inheritance in Man [MIM] #135100), known as myositis ossificans progressiva, is a rare genetic disease characterizedShe et al BMC Musculoskeletal Disorders (2020) 21:152FOP is an extremely rare disease with prevalence of 1 case in 2 millions in the world [3]. Fibrodysplasia ossificans progressiva (FOP) (Mendelian Inheritance in Man [MIM] #135100), known as myositis ossificans progressiva, is a rare genetic disease characterized. She et al BMC Musculoskeletal Disorders (2020) 21:152. FOP is an extremely rare disease with prevalence of 1 case in 2 millions in the world [3]. For this reason, patients with FOP are at a high risk of being misdiagnosed and/or underdiagnosed [4, 5]. The mortality rate of FOP patients in China and risk factors for mortality are still largely unclear
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