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Pathophysiology > Bone Pathologies > Flashcards

Bone Pathologies Flashcards

1
Q

What are the most common congenital bone pathologies?

A

1.) failure of the development of the bone-absence of clavicle, or distal thumb phalange connected to metacarpal bone (example). 2.) Supernumerary bones- cervical or lumbar ribs (unpleasant symptoms in extremities, decreases flexibility), extra digits, 3.) Fusion of adjacent bones- syndactyly (mom can drink too much and give syndactyly or a recessive gene)

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2
Q

What can occur in achondroplastic bones?

A

morphologic abnormalities in epiphyseal plates of long bones- dwarfism

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3
Q

Symptoms of primordial people?

A

Smallest people on earth! Can be only 31 cm=adult. Can be from a recessive gene, brains can be different in structure- no corpus callosum, average intelligence, small lower jaw, higher risk of brain aneurysm (berry aneurysm)- can die young

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4
Q

What is the most common lethal form of dwarfism?

A

Thanatophoric

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5
Q

What occurs in thanatophoric dysplasia?

A

small chest cavities cause respiratory insufficiency-lungs don’t have space to expand, they die

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6
Q

What occurs in osteogenesis imperfecta?

A

brittle bone syndrome- synthesis of collagen type 1 is affected

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7
Q

What occurs in subtype 1 of osteogenesis imperfecta?

A

AUTOSOMAL DOMINANT- normal stature, fragile bones, joint laxity, blue sclera, hearing impairment (bony labyrinth in middle ear is abnormal which changes conduction of sound)

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8
Q

What occurs in subtype 2 of osteogenesis imperfecta?

A

AUTOSOMAL RECESSIVE- most lethal- pre-natally or shortly after birth, blue sclera- NOT COMPATIBLE WITH LIFE!

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9
Q

What occurs in subtype 3 of osteogenesis imperfecta?

A

AUTOSOMAL DOMINANT- multiple fractures, short stature and growth retardation, progressive kyphoscoliosis- MOST PROBLEMATIC FOR PEOPLE WHO SURVIVE THROUGH OSTEOGENESIS

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10
Q

What occurs in subtype 4 of osteogenesis imperfecta?

A

AUTOSOMAL DOMINANT-short statures, moderate skeletal fragility,

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11
Q

Which pathology has increased porosity of the bone with resultant increased fragility?

A

osteoporosis- senile is the most common form

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12
Q

Why do women have osteoporosis at an older age?

A

decrease in estrogen after menopause, increase in IL-1, IL-6, TNF levels, increased levels of RANK, RANKL, increased osteoclast activity

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13
Q

Why does osteoporosis occur in aging (not because of post-menopausal occurrences)

A

decreased replicative activity of osteoprogenitor cells, decreased synthetic activity of osteoblasts, decreased biological activity of matrix bound growth factors, reduced physical activity

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14
Q

Why do you see osteoporosis develop in women before men?

A

Estrogen drops in women before testosterone drops in men. Men can get osteoporosis when their testosterone drops, usually later in life than women do.

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15
Q

What are other reasons for osteoporosis?

A

increased cortisol, hyperthyroidism, calcium deficiency, and significant inactivity

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16
Q

What is caused by osteitis fibrosa cystica?

A

primary or secondary hyperparathyroidism

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17
Q

What are the symptoms of osteitis fibrosa cystica?

A

osteolytic lesions, “brow tumor” of the bone: cystic spaces, lined by multinucleated osetoclasts, filled with vascular stroma, brown in color due to hemorrhage.

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18
Q

What could osteitis fibrosis cystica mimic?

A

osteoporosis

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19
Q

What is usually wrong with elderly people’s diet that results in oseoporosis?

A

They do no eat enough protein (they do not have the appetite for it) or they do not absorb enough. Problems with absorption could be that they do not have enough digestive enzymes for protein.

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20
Q

What labs are commonly seen in OFC?

A

high PTH, high Ca, low P, high serum alkaline phosphatase

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21
Q

What presents in osteomalacia?

A

vitamin D deficiency in adults, defective calcification of osteoid matrix, diffuse radiolucency, it can mimic osteoporosis

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22
Q

What presents in rickets?

A

vitamin D deficiency in children, decreased calcification AND excess accumulation of osteoid, thickening of epiphyseal growth plates, craniotabes=thinning and softening of occipital and parietal bones, delayed closing of fontanelles, pigeon breast (protrusion of the sternum), rachitic rosary: thickened costochondral junctions causing string of beads appearance, harrison groove= depression along the line of diaphragm insertion, bowed legs

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23
Q

Osteitis deformans presents with what? What bones are most likely affected?

A

abnormal bone structure, most commonly affecting the spine, pelvis, skull, femur, tibia

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24
Q

Physiologically, what happens in osteitis deformans- paget’s disease?

A

increased osteblastic AND osteoclastic activity

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25
Q

Which viruses cause osteitis deformans-paget’s disease?

A

Intranuclear inclusions of measles, paramyxovirus, respiratory syncytial virus

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26
Q

Who typically presents with paget’s disease?

A

elderly

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27
Q

Can paget’s disease involve only one bone? (mono-ostotic)

A

yes

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28
Q

What do the labs look like in someone with paget’s disease?

A

increased alkaline phosphatase, normal calcium and phosphate

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29
Q

What are the three major phases of paget’s disease?

A

1.)osteolytic phase- increased relative activity of osteoclasts, resorption of the bone is prominent, 2.) Mixed osteilytic-osteblastic phase- New bone formation, onset of characteristic mosaic pattern, 3.) Thick trabeculae, Prominent mosaic pattern, overall bone density increased

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30
Q

Which disease has failure of osteoclastic activity (bone density increases)?

A

osteopetrosis “stone bone”, known as marble bone disease or albers-schonberg disease (building bone w/o breaking down)

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31
Q

What are symptoms of osteopetrosis?

A

despite increased bone density, fragility of bones is increased as well, anemia due to suffocation of bone marrow, impingement of neural foramina (blindness, deafness due to nerve damage)

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32
Q

What are the differences between the autosomal recessive and dominant forms of osteopetrosis?

A

autosomal recessive is usually deadly in neonatal period, dominant is less severe- asymptomatic or scoliosis and stunted growth occurs in dominant

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33
Q

Calcium levels are normal in what pathologies?

A

osteoporosis, osteitis deformans, osteopetrosis

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34
Q

Calcium levels are decreased in what pathologies?

A

osteomalacia, rickets (or they could be normal in rickets)

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35
Q

calcium levels are increased in which pathology?

A

osteitis fibrosa cystica

36
Q

phosphorous levels are normal in which pathologies?

A

osteoporosis, osteitis deformans, osteopetrosis

37
Q

phosphorous levels are decreased in which pathologies?

A

osteomalacia, rickets, osteoitis fibrosa cystica

38
Q

Alk-phos levels are variable in which pathologies?

A

osteoporosis, osteomalacia, osteitis deformans

39
Q

Alk-phos levels are elevated in which pathologies?

A

rickets, osteoitis fibrosa cystica, osteopetrosis

40
Q

PTH levels are elevated in which pathologies?

A

osteomalacia, rickets, osteitis fibrosa cystica

41
Q

PTH levels are normal in which pathologies?

A

osteoporosis, osteitis deformans, osteopetrosis

42
Q

How does osteoporosis present on a DEXA scan?

A

decreased bone density

43
Q

How does osteomalacia present?

A

low vitamin D, soft bones

44
Q

How does rickets present?

A

low 25-OH-vitamin D, soft bones

45
Q

How does osteitis fibrosa cystica present?

A

brown tumors, cystic lesions

46
Q

how does osteitis deformans present?

A

abnormal “mosaic” architecture of the bone

47
Q

How does osteopetrosis present?

A

thick “marble” bones, increased # of fractures

48
Q

Which bone pathology is deficient in vitamin C?

A

scurvy

49
Q

How does scurvy present?

A

impaired formation of osteoid matrix, subperiosteal hemorrhage (painful!), osteoporosis, especially in metaphyseal areas, non-replacement with metaphyseal cartilage with bone

50
Q

What occurs in fibrous dysplasia?

A

replacement of the bone with fibrous tissue- but the etiology is unknown

51
Q

What are the three major types of fibrous dysplasia?

A

monostotic- often asymptomatic, but may result in sudden fracture. polystotic- associated with severe deformities. McCune-Albright syndrome- precocious puberty in girls, cafe-au lait spots, short stature

52
Q

Why does avascular necrosis occur?

A

death to the bone due to decreased blood supply- there are various theories but there is no solid etiology

53
Q

What are the risk factors for avascular necrosis?

A

Meds: chemo, steroids, or any condition that decreases perfusion (HTN, atherosclerosis), any condition that increases embolism formation (sickle cell, infection), trauma

54
Q

When does avascular necrosis affect teenagers and children?

A

Legg-Calve-Perthes syndrome - affects capital femoral epiphyses
Osgood-Shlatter syndrome – affects tibial tubercle
Kuhler bone disease – affects navicular bone of the foot

55
Q

How are children affected by osteomyelitis?

A

due to hematogenous spread of infection from some place else- staph A, E coli, group B beta hemolytic strep, salmonella with kids w/ sickle cell

56
Q

How are adults affected by osteomyelitis?

A

Usually, complication from a fracture or surgery, IV drug users get pseudomonas (haha STAPH A actually) bone infections

57
Q

How does osteomyelitis affect ALL age groups?

A

Most likely affected sites: distal femur, proximal tibia, proximal humerus
Fever, pain, malaise
In acute stage, may be resolved by antibiotic
If untreated, may progress to ischemic necrosis of the bone (sequestrum) and marrow
Subperiosteal dissection may burst and create sinuses draining through the skin
A sleeve of new bone (involucrum) may form around necrotic bone

58
Q

What is the most common benign tumor of the bone?

A

osteochondroma-exostosis

59
Q

How does osteochondroma present?

A 
Bone growth with cartilage covering
Affects men under 25yo (most likely)
Most likely to affect metaphysis 
Can occur in rare familial disease called multiple 
familial osteochondromatosis
Multiple lesions
Malignant transformation possible
60
Q

How does a bone giant cell tumor present?

A

oval or spindle shaped cells mixed with multinucleated giant cells, most likely to affect epiphysis, 50% affect the knee, SOAP BUBBLE APPEARANCE ON XRAY- BUZZ WORDDDDD***

61
Q

What is the most common primary malignant tumor for bone?

A

osteosarcoma

62
Q

How does osteosarcoma present?

A

Occurs in the metaphysis of long
bones
Proximal tibia, distal femur, about the knee
Pain and swelling, CAN METASTASIZE TO LUNG, LIVER AND BRAIN
Occasionally, pathologic fracture
Characteristic X-ray appearances:
Codman triangle: lifting of the periosteum
by the tumor
Sunburst appearance – spikes along the pattern of growth***** BOTH BUZZ WORDSSS CODMAN AND SUNBURST

63
Q

What are the risk factors for osteosarcoma?

A

ionizing radiation, bone infarcts, trauma

64
Q

How does chondrosarcoma present?

A 
Cartilaginous tumor
May arise from multiple 
ostreochondromas or 
multiple enchondromas
Prefers:
Pelvis
Spine 
Scapula
May arise in: 
Proximal humerus
Proximal femur
Proximal tibia
65
Q

In what pathology do you see “small blue cells”?

A

ewing sarcoma-extremely anaplastic

66
Q

How does chondrosarcoma present?

A 
Occurs most often in 
Long bones
Ribs
Pelvis
Scapula
Peak incidence: boys 
younger than 15
67
Q

How aggressive is chondrosarcoma?

A

very aggressive, but it responds well to chemo

68
Q

In early stages, what pathology does chondrosarcoma mimic?

A

osteomyelitis with systemic symptoms

69
Q

How does osteochondroma present?

A

Cartilage-capped subperiosteal bony projection from bone surface, distal femur- proximal tibia, males < 25 years old

70
Q

How does a giant cell tumor present?

A

Multinucleated giant cells and fibrous stroma, Epiphyses of the long bones, distal femur, proximal tibia, Females 20yo-40yo

71
Q

How does enchondroma present?

A

Intramedullary cartilagenous growth, bones of the hands and feet, no gender or age preference,

72
Q

How does endosarcoma present?

A

osteoid and bone presenting neoplasm, distal femur, proximal tibia, around the knee, males 10-20 years old

73
Q

How does chondrosarcoma present?

A

cartilagenous tumor, pelvis, femur, proximal tibia, ribs, vertebrae, males 30-60 years old

74
Q

How does ewing sarcoma present?

A

undifferentiated small blue cells, lone bones, pelvis, scapula, ribs males <15 years old

75
Q

What does rheumatoid arthritis affect?

A

joints

76
Q

Which gender gets rheumatoid arthritis more commonly?

A

women

77
Q

What is the etiology of rheumatoid arthritis?

A

Most likely autoimmune,
Characterized by the presence of RF, rheumatoid factor, and IgM antibody with Anti-IgG activity,
More likely in people with HLA-DR4

78
Q

Physiologically, what presents with rheumatoid arthritis?

A

Synovitis, edema, inflammatory infiltrate with neutrophils that are followed by lymphocytes,
Hyperplasia and hypertrophy of synovial lining cells,
Granulation tissue extends over articular cartilage,
Erosion and cyst formation in subchondral bone, scarring, contractures and deformities, may present with sub cutaneous nodules

79
Q

What are the symptoms of rheumatoid arthritis?

A 
Joint swelling and stiffness that lasts more than 30min in the morning or a period of inactivity, 
Fatigue, malaise, 
Polyarticular symmetric joint, 
involvement, 
Chronic changes include:
Boutonniere’s deformity, 
Ulnar deviation of MCP joints, 
Swan-neck deformity of PIP and DIP joints
80
Q

How is seronegative arthritis different from rheumatoid arthritis?

A

seronegative arthritis is negative for RF and is associated with HLA-B27

81
Q

What are the symptoms of seronegative arthritis?

A

Ankylosing spondilitis-Affects spine and sacroiliac joints, “Bamboo” spine with lacy osteophytic projections, Reiter’s syndrome-Urethritis, conjunctivitis and arthritis,“can’t see, can’t pee, can’t dance with thee”, associated with STDs or intestinal infections, psoriartic arthritis

82
Q

What occurs in osteoarthritis?

A

Non-inflammatory joint degeneration, Cartilage degeneration with new bone deposition
Eburnation – polished, ivory appearance of the bone
Cystic changes in subchondral bone, Increased density of the bone, Osteophytes – bone spurs
Joint mice – broken off osteophytes in the synovial fluid, heberden nodes-affect DIP, bouchard nodes-affect PIP

83
Q

How does gout present?

A

Deposition of urate crystals in the tissues, especially in the joints,
Intensely inflammatory,
IgG opsonizes crystals,
Phagocytosis by neutrophils
follows,
Released proteolytic enzymes,
create more damage and inflammation,
Affect MTP joint of the great toe, but can affect any joint,
Alcohol and large meals precipitate it,
May be secondary to malignancy leading
to significant cell turnover- leukiemias, multuple myeloma

84
Q

Infective arthritis- what bacteria is the most common form of bacterial arthritis?

A

gonorrhea

85
Q

Where does infective arthritis usually present?

A

single joint involvement, most likely, knee, wrist or arm or small joints of the hand

86
Q

What presents in Lyme disease?

A

Polyarticular involvement,
Knee and other large joints, like elbow,
Characterized by significant joint effusion with fluid that is Negative for RF – not supportive of RA, shows no bacterial growth, lyme is fastidious, moderate neutrophilia, re-occurence of effusion within weeks of draining

Pathophysiology (7 decks)

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