MUSCULOSKELETAL BLOCK Pathology Lecture 2: Congenital and developmental bone diseases
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MUSCULOSKELETAL BLOCK
PATHOLOGY LECTURE 2:
CONGENITAL AND DEVELOPMENTAL BONE DISEASES
Dr. Maha ArafahDr. Abdulmalik Alsheikh, MD, FRCPC
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Diseases of Bones Objectives
Be aware of some important congenital and developmental bone diseases and their principal pathological features
Understand the etiology, pathogenesis and clinical features of osteoporosis
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Diseases of Bones Congenital Acquired
Metabolic Infections Traumatic Tumors
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Congenital Diseases of Bones Localized or entire skeleton Dysostoses Dysplasias
Osteogenesis imperfecta Achondroplasia Osteopetrosis
( rare, defect in osteoclast function)
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Congenital Diseases of Bones
Osteogenesis imperfecta Brittle bone disease Hereditary disorders Defect in the synthesis of type I collagen Extreme fragility of skeleton with
susceptibility to fractures Four main types with different clinical
manifestations Type 1: blue sclera in both eye, deformed
teeth and hearing loss
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Osteogenesis imperfecta
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Congenital Diseases of Bones Achondroplasia
Dwarfism Defect in the cartilage synthesis at growth
plates Mutation in Fibroblast growth factor
receptor 3 (FGFR3) lead to inhibition of chondrocytes proliferation
Epiphyseal growth plate expansion is suppressed
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AchondroplasiaAutosomal Dominant
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METABOLIC BONE DISESES
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OSTEOPOROSISIs a term that denotes increased porosity
of the skeleton resulting from reduction in the bone mass.
It may be localized →disuse osteoporosis of a limb.
or may involve the entire skeleton, as a
metabolic bone disease.
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OSTEOPOROSIS
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OSTEOPOROSIS
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Vertebral bone with osteoporosis and a compression fracture
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OSTEOPOROSIS Primary Secondary
PRIMARY: post menopausal Senile
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OSTEOPOROSIS Secondary:
Endocrine Disorders Gastrointestinal disorders Neoplasia Drugs
Table 21-1 page 804
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OSTEOPOROSIS Pathophysiology: Occur when the balance between bone
formation and resorption tilts in favor of resorption
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OSTEOPOROSIS Pathophysiology:
Genetic factors Nutritional effects Physical activity Aging Menopause
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OSTEOPOROSIS Pathophysiology: AGING
↓ replicative activity of the osteoprogenitor cells
↓ synthetic activity of the osteoblasts. ↓ activity of the matrix bound growth
factors.
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OSTEOPOROSIS Menopause:
↓ serum estrogen ↑ IL-1,IL-6 levels ↑ osteoclast activity
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OSTEOPOROSIS Clinical features
Difficult to diagnose Remain asymptomatic ----fracture Fractures
Vertebrae Femoral neck
Bone density by radiographic measures
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Diagnosis Plain X ray: cannot detect osteoporosis
until 30% to 40% of bone mass has already disappeared.
Dual-emission X-ray absorptiometry (DXA scan): is used primarily to evaluate bone mineral density, to diagnose and follow up pt. with osteoporosis.
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Prognosis Osteoporosis is rarely lethal. Patients have an increased mortality rate
due to the complications of fracture. E.g. hip fractures can lead to decreased
mobility and an additional risk of numerous complications: deep vein thrombosis, pulmonary embolism and pneumonia
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OSTEOPOROSIS Prevention Strategies The best long-term approach to
osteoporosis is prevention. children and young adults, particularly
women, with a good diet (with enough calcium and vitamin D) and get plenty of exercise, will build up and maintain bone mass.
This will provide a good reserve against bone loss later in life. Exercise places stress on bones that builds up bone mass