Ladda ner FOP Treatment Guidelines 2011
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Behöver du som läkare, anhörig eller person med FOP rådgivning? vid minsta tveksamhet eller akutsituation i första hand kontakta alltid våra specialister och rådgivare i Philadelphia USA du får som regel svar samma dag 365dagar/år;
Dr Kaplan
Dr Pignolo
ABSTRACT…………………………………………………………………………………………… 5
I. THE CLINICAL AND BASIC SCIENCE BACKGROUND OF FOP……………..…………….. 6
A. Introduction………………………………………………………………..…..…..…………………. 6
B. Classic Clinical Features of FOP……………………………………………………..……………. 6
C. Other Skeletal Anomalies in FOP…………………………………………………………… 6
D. Radiographic Features of FOP……………………………………………………….………. 7
E. Histopathology of FOP Lesions………………………………………………………………. 7
F. Laboratory Findings in FOP………………………………………………………………… 8
G. The Immune System & FOP…………………………………………………………………. 8
H. Misdiagnosis of FOP………………………………………………………………………………… 8
I. Epidemiologic, Genetic & Environmental Factors in FOP……………………..…………. 9
J. FOP & the BMP Signaling Pathway………………………………………………………… 9
K. The FOP Gene………………………………………………………………..………………. 9
L. Structural and Functional Consequences of the FOP Mutation…………………………… 10
M. Genetic Testing & FOP……………………………………………………………………………………………… 10
N. Animal Models of FOP……………………………………………………………………………… 10
O. Challenges of Therapeutic Assessment in FOP…………………………………………….. 11
II. THE PATHOLOGIC & PATHOLOGIC-BASED TREATMENT OF FOP…………………. 12
A. Introduction………………………………………………..……… …………………………. 12
B. Corticosteroids………………………………………………………………………………… 12
C. Mast Cell Inhibitors………………………………………………………………..………… 13
D. Cyclo-oxygenase-2 Inhibitors & NSAIDs…………………………………………………… 15
E. Aminobisphosphonates………………………………………………………………………. 17
F. Acute & Chronic Pain Management in FOP……………………………………………….. 23
G. Muscle Relaxants…………………………………………………………………………….. 24
H. Chemotherapy Agents & Radiation Therapy……………………………………………… 24
I. Bone Marrow Transplantation……………………………………………………………… 24
J. Rosiglitazone………………………………………………………………………………….. 25
K. Retinoic Acid Receptors Agonists…………………………………………………………… 27
L. Miscellaneous Agents…………………………………………………………………………. 29
M. Targeting ACVR1/ALK2; Definitive Targets for Therapy……………………………….. 29
III. SPECIAL MEDICAL CONSIDERATIONS…………………………………………………… 31
A. Introduction……………………..……………………………………………………………. 31
B. Injury Prevention in FOP……………………………………………….…………………… 31
C. Spinal Deformity in FOP…………………………………………………………………….. 32
D. Cardiopulmonary Function in FOP………………………………………………………… 33
E. Immunizations & FOP………………………………………………………………………. 34
F. Limb Swelling & FOP……………………………………………………………………….. 38
G. Pressure Sores in FOP………………………………………………………………..…….. 38
H. Fractures in FOP……………………………………………………………………..……… 39
I. Preventive Oral Healthcare in FOP………………………………………………….……. 39
J. Dental Anesthesia in FOP…………………………………………………………………… 40
K. General Anesthesia in FOP…………………………………………………………..……… 40
L. Orthodontics in FOP………………………………………………………………….……… 42
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M. Submandibular Flare-ups of FOP………………………………………………….……. 42
N. Hearing Impairment in FOP………………………………………………………. ……. 44
O. Kidney Stones & FOP……………………………………………………………..…….. 44
P. Rehabilitation Issues in FOP …..……………………………………………………..…. 44
Q. Pregnancy Issues in FOP……………………………………………………………..…. 46
IV. CURRENT TREATMENT CONSIDERATIONS…………………………………………. 48
V. CLASSES OF MEDICATIONS (TABLE 1) ……………………………………………….. 50
i. Class I Medications………………………………………………………………………. 50
ii Class II Medications…………………………………………………………………..…. 52 iii. Class III Medications……………………………………………………………………. 53
VI. SUMMARY OF KEY PRACTICE POINTS………………………………………………. 54
VII. CONCLUSIONS…………………………………………………………………………….. 56
VIII. ACKNOWLEDGEMENTS ………………………………………………………………… 57
FIGURE 1: SYMPTOMATIC TREATMENT SCHEMA IN FIBRODYSPLASIA
OSSIFICANS PROGRESSIVA (FOP) …………………………………………………………. 58
IX. REFERENCES……………………………………………………………………………. 59
I. The Clinical and Basic Science Background of FOP………………………………… 59
A. Introduction………………………………………………………………………… 59
B. Classic Clinical Features of FOP…………………………………………………. 59
C. Other Skeletal Anomalies in FOP………………………………………………… 60
D. Radiographic Features of FOP…………………………………………………… 60
E. Histopathology of FOP Lesions…………………………………………………… 60
F. Laboratory Findings in FOP……………………………………………………… 61
G. The Immune System……………………………………………………………… 62
H. Misdiagnosis in FOP……………………………………………………………… 62
I. Epidemiologic, Genetic & Environmental Factors in FOP…………………….. 62
J. FOP & The BMP Signaling Pathway…………………………………………… 63
K. The FOP Gene……………………………………………………………………. 64
L. Structural and Functional Consequences of the FOP Mutation……………… 65
M. Genetic Testing in FOP………………………………………………………….. 66
N. Animal Models in FOP …………………………………………………………. 66
O. Challenges of Therapeutic Assessment in FOP ……………………………….. 67
II. THE PATHOLOGIC AND PATHOPHYSIOLOGIC–BASED TREATMENT OF FOP……………………………………………………………………. 69
A. Introduction……………………………………………………………………… 69
B. Corticosteroids…………………………………………………………………… 69
C. Mast Cell Inhibitors……………………………………………………………… 69
D. Cyclo-oxygenase 2 inhibitors & NSAIDS………………………………………. 70
E. Aminobisphosphonates………………………………………………………….. 71
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F. Acute & Chronic Pain Management in FOP……………………………………. 73
G. Muscle Relaxants………………………………………… ……………………… 73
H. Chemotherapy Agents & Radiation Therapy…………………………………… 74
I. Bone Marrow Transplantation ………………………………………………….. 74
J. Rosiglitazone………………………………………………………………………. 74
K. Retinoic Acid Receptor Agonists…………………………………………………. 75
L. Miscellaneous Agents……………………………………………………………… 75
M. Targeting ACVR1/ALK2: Definitive Targets for Therapy ….………………… 76
III. SPECIAL MEDICAL CONSIDERATIONS………………………………………. 77
A. Introduction………………………………………………………………………… 77
B. Injury Prevention in FOP…………………………………………………………. 77
C. Spinal Deformity in FOP………………………………………………………….. 77
D. Cardiopulmonary Function in FOP…………………………………………..….. 77 E. Immunizations & FOP…………………………………………………………….. 77
F. Limb Swelling & FOP……………………………………………………………… 78
G. Pressures Sores in FOP…………………………………………………………….. 79
H. Fractures in FOP…………………………………………………………………… 79
I. Preventive Oral Healthcare in FOP………………………………………………. 79
J. Dental Anesthesia in FOP…………………………………………………………… 80
K. General Anesthesia in FOP………………………………………………………… 80
L. Orthodontics & FOP………………………………………………………………. 80
M. Submandibular Flare-ups in FOP………………………………………………… 80
N. Hearing Impairment in FOP………………………………………………………. 80
O. Kidney Stones & FOP………………………………………………………………. 80
P. Rehabilitation Issues in FOP………………………………………………………. 81
Q. Pregnancy Issues in FOP…………………………………………………………… 81
IV. SUMMARY OF KEY PRACTICE POINTS………………………………………. 82
V. CONCLUSIONS……………………………………………………………………… 83
X. THE INTERNATIONAL CLINICAL CONSORTIUM ON
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA…………….………….…………… 84
Stöd FOP-drabbade genom bidrag till FOP-forskningen, bankgiro 5823-7140
