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Hemophilia is associated with osteoporosis and increased prevalence of low bone mineral density (BMD). Many clinical risk factors have been reported, such as hemophilic arthropathy, reduced physical activity, decreased sun exposure, hepatitis C virus infections, vitamin D deficiency, and low body mass index (BMI). There is no data on the prevalence of vitamin D deficiency and low BMD in hemophilia patients in Taiwan or Asia. To the best of our knowledge, no previous studies have reported the prevalence of sarcopenia and correlation with osteoporosis in hemophilia adult patients. The purpose of this study will evaluate the prevalence of vitamin D deficiency, low BMD, sarcopenia and body composition in a cohort of patients with hemophilia in Taiwan.
Hemophilia is associated with osteoporosis and increased prevalence of low bone mineral density (BMD). Soucek et al. reported sarcopenia and low trabecular BMD at the radius in the boys with hemophilia by CT.The severity of hemophilic arthropathy associated with lower BMD, muscle atrophy and obesity has been shown by some studies.
This is a single-center, cross-sectional, observational study. All participants will sign informed consent that fully disclosed the risks and benefits of study participation. The study will be performed at the Hemophilia Care and Research Center. Sixty adult patients (age ≥ 20) with hemophilia and 20 healthy subjects will be enrolled for scanning of the lean tissue, appendicular skeletal muscle mass (ASM), fat mass, lumbar spine and hip BMD by dual-energy X-ray absorptiometry (DXA) and assess serum vitamin D level. We will collect other clinically relevant information, including age, body mass index (BMI), hemophilia type and severity, inhibitor titer, Pettersson score by x-ray, HJHS, handgrip strength, history of HCV or HIV infection and history of fracture.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Hemophilia Group | Hemophilia adult patients | ||
| Control Group | Healthy adult subjects |
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| Measure | Description | Time Frame |
|---|---|---|
| Vitamin D | serum vitamin D | one day |
| Measure | Description | Time Frame |
|---|---|---|
| Bone marrow density | Bone marrow density of lumbar spine and bilateral hip by dual X-ray absorptiometry (DXA) | one day |
| Body composition | using whole-body DXA (GE Lunar iDXA, GE Healthcare Lunar, Madison, Wisconsin, U.S.A.) |
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Inclusion Criteria:
Exclusion Criteria:
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60 hemophilia patients and 20 healthy subjects
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| Name | Affiliation | Role |
|---|---|---|
| Tsung Ying Li, Dr | No.325,Sec.2, Cheng-Kung Rd. Neihu 11490, Taipei, Taiwan, R.O.C | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hemophilia care and research center | Taipei | 114 | Taiwan |
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| ID | Term |
|---|---|
| D014808 | Vitamin D Deficiency |
| D055948 | Sarcopenia |
| D010024 | Osteoporosis |
| D006467 | Hemophilia A |
| ID | Term |
|---|---|
| D001361 | Avitaminosis |
| D003677 | Deficiency Diseases |
| D044342 | Malnutrition |
| D009748 | Nutrition Disorders |
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| one day |
| Pettersson score | Bilateral shoulder, elbow, hip, knee, ankle joints score by x-ray. The Pettersson score ranges from 0 (normal) to 13 (most severe) and is according to the following eight radiographic features of joints: osteoporosis, osteophytes, narrowing of joint space, subchondral irregularity, subchondral cyst formation, erosion of joint margins, and bone remodelling. | one day |
| Hemophilia Joint Health Score | Functional and structured score of bilateral elbow, knee and ankle. The score for each joint is the sum of several elements including swelling (0-3), duration of swelling (0-1), muscle atrophy (0-2), crepitus of motion (0-2), flexion loss and extension loss (0-6), joint pain (0-2) and strength (0-4). A score of 20 may indicate the most severe damage/impairment in the evaluated joint and a score of zero corresponds to no identifiable joint impairment. | one day |
| Handgrip strength | Handgrip strength (kg) will be measured using the same standard calibrated hand dynamometers (Baseline® Hand Dynamometer - Digital LCD Gauge, Fabrication Enterprises Inc. White plains, New York, USA). We will calculate the mean of three maximal grip-strength measurement in each hand. | one day |
| D009750 |
| Nutritional and Metabolic Diseases |
| D009133 | Muscular Atrophy |
| D020879 | Neuromuscular Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D001284 | Atrophy |
| D020763 | Pathological Conditions, Anatomical |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D012816 | Signs and Symptoms |
| D001851 | Bone Diseases, Metabolic |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D008659 | Metabolic Diseases |
| D025861 | Blood Coagulation Disorders, Inherited |
| D001778 | Blood Coagulation Disorders |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D020147 | Coagulation Protein Disorders |
| D006474 | Hemorrhagic Disorders |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |