Serum osteocalcin level is associated with the mortality in Chinese patients with Fibrodysplasia ossificans progressiva aged ≤18 years at diagnosis
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 f...
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| Format: | Article |
| Language: | English |
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BMC
2020-03-01
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| Series: | BMC Musculoskeletal Disorders |
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| Online Access: | http://link.springer.com/article/10.1186/s12891-020-3170-3 |
| _version_ | 1818301501880139776 |
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| author | Dunmin She Ran Li Ping Fang Guannan Zong Ying Xue Keqin Zhang |
| author_facet | Dunmin She Ran Li Ping Fang Guannan Zong Ying Xue Keqin Zhang |
| author_sort | Dunmin She |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-13T05:24:01Z |
| format | Article |
| id | doaj.art-14200dce54e84f7d9d5028aca2e5d915 |
| institution | Directory Open Access Journal |
| issn | 1471-2474 |
| language | English |
| last_indexed | 2024-12-13T05:24:01Z |
| publishDate | 2020-03-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Musculoskeletal Disorders |
| spelling | doaj.art-14200dce54e84f7d9d5028aca2e5d9152022-12-21T23:58:15ZengBMCBMC Musculoskeletal Disorders1471-24742020-03-012111810.1186/s12891-020-3170-3Serum osteocalcin level is associated with the mortality in Chinese patients with Fibrodysplasia ossificans progressiva aged ≤18 years at diagnosisDunmin She0Ran Li1Ping Fang2Guannan Zong3Ying Xue4Keqin Zhang5Department of Endocrinology and Metabolism, Tongji Hospital of Tongji University, Tongji University School of MedicineDepartment of Endocrinology and Metabolism, Tongji Hospital of Tongji University, Tongji University School of MedicineDepartment of Endocrinology and Metabolism, Tongji Hospital of Tongji University, Tongji University School of MedicineDepartment of Endocrinology and Metabolism, Tongji Hospital of Tongji University, Tongji University School of MedicineDepartment of Endocrinology and Metabolism, Tongji Hospital of Tongji University, Tongji University School of MedicineDepartment of Endocrinology and Metabolism, Tongji Hospital of Tongji University, Tongji University School of MedicineAbstract 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.http://link.springer.com/article/10.1186/s12891-020-3170-3Fibrodysplasia ossificans progressiva (FOP)MortalityRisk factorsOsteocalcin |
| spellingShingle | Dunmin She Ran Li Ping Fang Guannan Zong Ying Xue Keqin Zhang Serum osteocalcin level is associated with the mortality in Chinese patients with Fibrodysplasia ossificans progressiva aged ≤18 years at diagnosis BMC Musculoskeletal Disorders Fibrodysplasia ossificans progressiva (FOP) Mortality Risk factors Osteocalcin |
| title | Serum osteocalcin level is associated with the mortality in Chinese patients with Fibrodysplasia ossificans progressiva aged ≤18 years at diagnosis |
| title_full | Serum osteocalcin level is associated with the mortality in Chinese patients with Fibrodysplasia ossificans progressiva aged ≤18 years at diagnosis |
| title_fullStr | Serum osteocalcin level is associated with the mortality in Chinese patients with Fibrodysplasia ossificans progressiva aged ≤18 years at diagnosis |
| title_full_unstemmed | Serum osteocalcin level is associated with the mortality in Chinese patients with Fibrodysplasia ossificans progressiva aged ≤18 years at diagnosis |
| title_short | Serum osteocalcin level is associated with the mortality in Chinese patients with Fibrodysplasia ossificans progressiva aged ≤18 years at diagnosis |
| title_sort | serum osteocalcin level is associated with the mortality in chinese patients with fibrodysplasia ossificans progressiva aged ≤18 years at diagnosis |
| topic | Fibrodysplasia ossificans progressiva (FOP) Mortality Risk factors Osteocalcin |
| url | http://link.springer.com/article/10.1186/s12891-020-3170-3 |
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