Term
| Paget’s Disease presentation |
|
Definition
| localized bone disease of unknown etiology featuring abnormal bony architecture from increased osteoclastic and osteoblastic activity. |
|
|
Term
|
Definition
Presumably caused by viral infection of osteoclasts -Paramyxovirus and respiratory synctial virus (?)
Genetic link also shown
Stages: osteolytic -> mixed osteolytic -> osteosclerotic stage |
|
|
Term
| Paget’s Disease pathogenesis |
|
Definition
Varied
Commonly monostotic (affects 1 bone) affecting axial skeleton or femur
Bone fractures, nerve compression, osteoarthritis, skeletal deformities
1% develop secondary sarcoma
x-rays show denser bones |
|
|
Term
| Paget’s Disease histomorphology |
|
Definition
Osteolytic phase: resorption by large osteoclasts
Mixed phase: woven bone formation intermixed with lamellar bone
Lamellar bone deposited tile-like or mosaic patterned
Osteosclerotic (burnt-out) phase: bone sclerosis intermixed with mosaic lamellar bone and thickened trabeculae and cortices |
|
|
Term
|
Definition
Clinical suspicion
Increased serum alkaline phosphates
x-rays
Bone biopsy |
|
|
Term
|
Definition
Calcium supplements
Vit D
Sunshine
Non-weight bearing exercise |
|
|
Term
| Osteoporosis presentation |
|
Definition
| decreased bone mass, increased porosity, and increased risk of bone fractures |
|
|
Term
|
Definition
Back pain - loss of height or back deformity from vertebral compression factor
Fracture - mostly hip fracture
Incidental - from screening |
|
|
Term
| Osteoporosis pathogenesis |
|
Definition
Women more predisposed (prevalence: 15% women, 4% males)
Risk factors: age, reduced physical activity, genetics, nutrition, hormones, certain drugs |
|
|
Term
|
Definition
Dual-energy absorptiometry - value plotted on bell curve
T score of -2.5 standard deviations |
|
|
Term
| Osteoporosis histomorphology |
|
Definition
Macroscopically: more porous bone
Microscopically: thinning of cortical bone and trabeculae |
|
|
Term
|
Definition
Exercise
Calcium/ vitamin D
Estrogen replacement
Bisphosphonates |
|
|
Term
| Osteogenesis Imperfecta presentation |
|
Definition
| abnormal type 1 collagen production |
|
|
Term
| Osteogenesis Imperfecta clinical |
|
Definition
Extreme skeletal fragility
Most common type - easily fractured bones
Blue sclera from increased translucency
Decreased dentin in teeth -> early decay |
|
|
Term
| Osteogenesis Imperfecta pathogenesis |
|
Definition
Defects in alpha 1 or 2 chain
4 types - type 1 most common and autosomal dominant |
|
|
Term
| Osteogenesis Imperfecta Dx |
|
Definition
primarily from clinical presentation and radiologic findings
Rarity -> delayed diagnosis
Collagen analysis from skin or DNA sequencing confirm |
|
|
Term
| Osteogenesis Imperfecta histo. |
|
Definition
Macro: more porous bones
Micro: thinning of cortical bone and trabeculae
Note: samples will be from children instead of adults |
|
|
Term
| Osteogenesis Imperfecta Tx |
|
Definition
Not much to actually treat
Genetic counseling for risks of OI in pregnancy
Ultrasound at 14-18 weeks gestation identify bone abnormalities |
|
|
Term
| Osteitis Fibrosa Cystica presentation |
|
Definition
|
|
Term
| Osteitis Fibrosa Cystica clinical |
|
Definition
Similar to osteoporosis
Hyperparathyroidism |
|
|
Term
| Osteitis Fibrosa Cystica pathogenesis |
|
Definition
Chronically elevated PTH stimulates osteoclastic bone resorption
Excess PTH from abnormal parathyroid gland (primary) or abnormal parathyroid stimulation (secondary)
Chronic bone resorption -> osteolysis and decreased bone mass |
|
|
Term
| Osteitis Fibrosa Cystica Dx |
|
Definition
Dual energy absorptimetry (osteoporosis levels)
Increased serum PTH, Ca2+, alkaline phosphates, and decreased serum phosphorus |
|
|
Term
| Osteitis Fibrosa Cystica histo |
|
Definition
Macro: similar to osteoporosis, maybe with "brown tumor" - brown colored lesion in bone
Micro: similar to osteoporosis
Brown tumor= cystic space with osteoclasts, vascular fibrotic tissue, and hemosiderin deposition from hemorrhage of vasuclar tissue |
|
|
Term
| Osteitis Fibrosa Cystica Tx |
|
Definition
Vitamin D
Surgical treatment may be parathyroidectomy if parathyroid tumor is present |
|
|
Term
| Renal Osteodystrophy presentation |
|
Definition
| hyperparathyroidism due to endocrine derangements and electrolyte abnormalities from chronic renal failure |
|
|
Term
| Renal Osteodystrophy clinical |
|
Definition
Classic symptoms of renal failure
Presents like osteoporosis
Occasionally osteomalacia (bone softening) |
|
|
Term
| Renal Osteodystrophy pathogenesis |
|
Definition
Same as OFC
Renal failure affects lots of things |
|
|
Term
|
Definition
End state renal disease
Dual energy absorptimetry
Increased serum Ca2+ and PTH C |
|
|
Term
| Renal Osteodystrophy hist |
|
Definition
|
|
Term
|
Definition
Ca2+ and vit D supplement
Restrict phosphate intake
Phosphage binders (calcium carbonate, calcium acetate, etc)
Renal transplant
Hemodialysis |
|
|
Term
| Rickets (children)/Ostemomalacia (adults) presentation |
|
Definition
| Vitamin D deficiency leading to defective bone matrix calcification and subsequent softening |
|
|
Term
| Rickets (children)/Ostemomalacia (adults) clinical |
|
Definition
(children)
Weak skeletal bones
Deranged bone growth (e.g. bowed legs)
Skeletal deformities: • Craniotabes - thinning and softening of occipital and parietal bones
• Late closing fontanelles
• Rachitic rosary - thickening of costochondral junction
• Harrisons grove - depression of insertion of diaphragm to rib cage
• Pigeon breast - protruding sternum
• Decreased height - from spinal deformity
(adult)
No skeletal deformities
Osteopenia may accompany |
|
|
Term
| Rickets (children)/Ostemomalacia (adults) pathogenesis |
|
Definition
Vitamin D deficiencies from:
Decreased dietary intake
Decreased sun exposure
Decreased absorption from GI
Deranged vit D metabolism
Black people predisposed due to decreased ability to absorb sun rays |
|
|
Term
| Rickets (children)/Ostemomalacia (adults) Dx |
|
Definition
Possible low serum Ca2+, phosphorus, and high alkaline phosphatase
Arterial blood gas from metabolic acidosis
x-rays: weak and soft bones in adults, skeletal abnormalities in kids |
|
|
Term
| Rickets (children)/Ostemomalacia (adults) histo |
|
Definition
Decreased mineralization with Ca2+ and wide trabeculae or osteoid seams
Abnormal growth plate maturation |
|
|
Term
| Rickets (children)/Ostemomalacia (adults) Tx |
|
Definition
Increased vit D and phosphates intake
Increased exposure to sunlight |
|
|
Term
|
Definition
| vitamin C deficiency resulting in impaired collagen formation, which then produces decreased osteoid matrix formation and impaired wound healing |
|
|
Term
|
Definition
Weakening capillaries -> hemorrhaging into soft tissue, bleeding gums, loosening teeth, anemia, general debility
"cork screw" hairs
Similar presentation of osteoporosis with bone pain
Pediatrics may present with diarrhea, poor weight gain, anorexia
Radiologicaly appear as "ground-glass" osteopenia |
|
|
Term
|
Definition
Ascorbic acid deficiency (vit C), a cofactor for proline and lysine hydroxylation needed for collagen synthesis
Chronic deficiency leads to decreased bone formation |
|
|
Term
|
Definition
Physical exam
Nutritional history
Radiographs
Blood test for vit C and iron |
|
|
Term
|
Definition
Similar to osteoporosis
Extravascular hemorrhage in tissue |
|
|
Term
|
Definition
|
|
Term
| Osteopetrosis presentation |
|
Definition
| Group of genetic diseases resulting in reduced osteoclastic resorption |
|
|
Term
|
Definition
How osteoclasts dysfunction is unknown
Some gene mutations (carbohydrage anhydrase II and CIC-7) interfere with acidification of resorption pit
Bone deposition in cranial foramen impinges on optic, facial and auditory nerves causes neural defecits
Anemia arises from obliteration of marrow space by bone deposition |
|
|
Term
| Osteopetrosis pathogenesis |
|
Definition
Infantile malignant osteopetrosis (autosomal recessive): evident in utero or soon after birth
Skeletal abnormalities
Fractures, anemia, neutropenia, infections, death
If survive infancy -> optic atrophy, deafness, facial paralysis
Adolescent or adult osteopetrosis (autosomal dominant):
x-rays reveal repeated fractures
Mild cranial nerve deficits and anemia
X-ray - bones appear brighter (more density) and have "erlenmeyer flask" deformity
No distinction between outer cortex and inner medulla |
|
|
Term
|
Definition
Clinical presentation
Radiographs- Xray, CT, MRI
Family history |
|
|
Term
|
Definition
Macro: bones like medullary cavity and bulbous end of long bone
Micro: solid cortical bone and no medullary cavity
Osteoclast number increased, decreased, or stays same |
|
|
Term
|
Definition
Correct complications and improve quality of life
Genetic counseling |
|
|
Term
|
Definition
| enzyme associated with osteoblastic bone depostion |
|
|
Term
|
Definition
| amino acid found only in collagen; high serum or urinary levels occurs due to ↑ bone resorption |
|
|
Term
| • Serum Calcium & Phosphate |
|
Definition
| abnormal levels may indicate bone related pathology |
|
|
Term
| • Parathyroid hormone (PTH): |
|
Definition
| secreted by parathyroid gland to stimulate osteoclastic activity resulting in elevated serum calcium levels |
|
|
