Pathology Exam 3

Front 1

T/F Bone pathology can include metabolic disease, infections, and tumors

Back 1

True

Front 2

This is a group of hereditary conditions characterized by abnormal development of type I collagen

Back 2

Osteogenesis Imperfecta AKA "brittle bone disease"

Front 3

Osteogenesis Imperfecta

Back 3

- Autosomal dominant and recessive forms seen (mostly dom)
- Multiple bone fractures are primary associated pathoses
- Extreme forms cause death in utero, milder forms lead to late childhood fractures; int. forms also present
- Blue sclera and opalescent teeth (resembling dentinogenesis imperfecta)

Front 4

A group of rare hereditary disorders characterized by deficient osteoclastic activity w/ resultant defective bone remodeling

Back 4

Osteopetrosis AKA "marble bone disease"

Front 5

Osteopetrosis

Back 5

- Both autosomal dominant and autosomal recessive forms are seen with an associated variable presentation and severity.
- Affected patients present with significantly thickened, heavily mineralized and abnormally brittle bone.
- Since the marrow space is replaced with dense bone, pancytopenia is common leading to anemia, thrombocytopenia and an increased prevalence of infections.
- Compression on nerve roots creates nerve palsies in many patients.

Front 6

__ and __ are hereditary bone diseases

Back 6

Osteogenesis imperfecta and osteopetrosis

Front 7

A disease resulting from reduced bone mass with an associated bone fragility and increased prevalence of fractures; generalized or localized

Back 7

Osteoporosis

Front 8

Generalized osteoporosis arises from what?

Back 8

Is secondary to a wide variety of pathoses

Front 9

95% of osteoporosis cases are primary. What is it associated w/ and how is it caused?

Back 9

- Associated w/ aging and distinctly common in postmenopausal women
- Related to lower estrogen/androgens and reduced physical activity
- Other factors thought to be important in osteoporosis are genetic factors, calcium nutritional state, and secondary causes such as corticosteroid therapy.

Front 10

Between what ages is there a balance between bone resorption and apposition w/ no net gain?

Back 10

35-40

Front 11

Between what ages is the time of peak bone mass?

Back 11

25-30

Front 12

T/F after the age of 50, there is gradual attrition of bone

Back 12

False, age 40

Front 13

Why are women more vulnerable to bone loss?

Back 13

Females are more vulnerable because, on average, their skeletons are more delicate than men’s throughout life.

Front 14

What type of bone exhibits the most severe osteoporotic involvement?

Back 14

Those containing abundant cancellous bone (i.e. spine and femoral head)

Front 15

Common sites for osteoporosis involvement and common complications

Back 15

The vertebral bodies, pelvis, femoral neck, and other weight-bearing bones. Fracture often follows trivial trauma. Pulmonary embolism and pneumoniae are common complications of fractures.

Front 16

Therapies for osteoporosis

Back 16

- The primary therapy to slow bone loss includes adequate dietary calcium intake, vitamin D supplementation, and regular weight-bearing exercise. This approach works best when initiated prior to age 30
- The first line of medical therapy for affected patients is the bisphosphonates due to their ability to reduce osteoclastic activity.
- Other approaches include estrogen receptor agonists, calcitonin, and parathyroid hormone.

Front 17

Is a fairly common bone disorder characterized by repetitive episodes of increased regional osteoclastic activity and bone resorption (osteolytic stage), followed by exuberant osteoblastic activity and bone formation (mixed osteoclastic-osteoblastic stage), and finally by an apparent exhaustion of cellular activity (osteosclerotic stage). The net effect is a gain in bone mass

Back 17

Paget's disease AKA "osteitis deformans"

Front 18

Paget's Disease

Back 18

- Rare before 40; mostly males and 10% white Europeans
- Can involve a single bone (monostotic 15%), numerous bones (polyostotic 85%), or rarely the entire skeleton

Front 19

The histopathologic features of this disease form a mosaic pattern of bone. Radiographically, the bone shows a mixture of radiolucent-radiopaque areas referred to as the cotton-wool pattern.

Back 19

Paget's disease

Front 20

Clinical manifestations of Paget's disease

Back 20

About 80-90% are asymptomatic, and most are discovered on routine radiographs. When present, the clinical manifestations and symptoms are variable and include enlargement, bone pain, deformity, cranial nerve compression, hearing loss and visual disturbances, bowing of bones and fractures. Other possible complications include leontiasis ossea (lion face, characterized by an overgrowth of the facial and cranial bones) and the development of sarcomas (particularly osteosarcoma).

Front 21

Diagnosing Paget's disease demonstrating elevated levels of __ ___ and serum __ __

Back 21

Urinary hydroxyproline (increased bone resorption) and alkaline phosphate (increased bone apposition)

Front 22

Hyperparathyroidism

Back 22

Is characterized by inappropriate secretion of PTH (parathyroid hormone). PTH plays a central role in calcium homeostasis via its effects on: osteoclast activation, increased calcium resorption by the kidneys, and increased synthesis of vitamin D in the kidneys, resulting in increased calcium absorption from the gut. The net result is an elevation in serum calcium

Front 23

Why do patients w/ hyperparathyroidism experience skeletal changes?

Back 23

Due to activation of osteoclast

Front 24

Primary Hyperparathyroidism

Back 24

- In more than 95% of cases, primary hyperparathyroidism is caused by parathyroid adenomas or hyperplasia commonly by thyroid carcinoma
- Is usually a disease of adults and is more common in women. - The most common manifestation is an increase in serum calcium due to an increased level of PTH

Front 25

"Painful bones, renal stones, abdominal groans, and psychic moans" are a constellation of symptoms of what disease?

Back 25

Primary hyperparathyroidism

Front 26

Secondary Hyperparathyroidism

Back 26

Is caused by any condition associated with a chronic depression in the
serum calcium level, because low serum calcium leads to compensatory over activity of the parathyroids

Front 27

Mechanism of secondary hyperparathyroidism

Back 27

Chronic renal insufficiency is associated with decreased phosphate excretion, which in turn results in hyperphosphatemia. The elevated serum phosphate levels directly depress serum calcium levels and thereby stimulate parathyroid gland activity. In addition, loss of renal substances reduces the synthesis of the active form of vitamin D, which in turn reduces intestinal absorption of calcium

Front 28

Renal failure is the most common cause of this?

Back 28

Secondary Hyperparathyroidism

Front 29

Refers to an infection spreading through the medullary spaces of bone

Back 29

Osteomyelitis
- hematogenous spread
- contiguous infection
- direct trauma
* Staphylococcus aureus most frequently seen to cause

Front 30

Symptoms and treatment for osteomyelitis

Back 30

Pain and tenderness will be present in the affected area with subsequent development of redness and swelling in the area. With progression, ill-defined areas of radiolucency develop and may be intermixed with radiopaque sequestra. Treatment may include drainage and appropriate antibiotics, with or without surgical debridement.

Front 31

Is a disorder is characterized by progressive replacement of bone by a proliferation of fibrous tissue intermixed with unorganized, woven bone; believed this represents a focus of disordered maturation with arrest at an immature stage of woven bone due to a specific mutation

Back 31

Fibrous dysplasia

Front 32

Monostotic Fibrous Dysplasia

Back 32

- 70% of cases
- It usually manifests in childhood and often becomes stationary at puberty. The most common sites of involvement in descending order of frequency are the ribs, femur, tibia, jaws, calvarium, and humerus

Front 33

Polyostotic Fibrous Dysplasia w/o endocrine involvement (Jaffe Syndrome)

Back 33

- Tends to be unilateral; 25% of cases
- Frequently affected bones are craniofacial bones (including jaws), femur, tibia, humerus, and pelvis. Café-au-lait pigmentations are variable but not rare; related endocrine abnormalities are absent.

Front 34

Polyostotic Fibrous Dysplasia w/ endocrine involvement (McCune-Albright Syndrome)

Back 34

- 3% of cases
- Females are more affected
- Unilateral effects the majority of bones on that side
- Precocious sexual development is the most common endocrine abnormality, other disorders such as hyperthyroidism, excess growth hormone, and primary adrenal hyperplasia may be seen
- Accompanied by melanin pigmentation of the skin (café-au-lait spots)

Front 35

"Chinese characters" are what and seen in what disorder?

Back 35

- A mixture of cellular fibrous connective tissue intermixed with elongated trabeculae of immature woven bones. The affected area will appear as an ill-defined area of increased radiopacity described as ground glass.
- Fibrous dysplasia

Front 36

The clinical manifestations and potential of this disease are variable. Swelling and destruction of bone with considerable deformity can occur. Many cases will stabilize at puberty. Others will progress slowly. Treatment involves surgery and/or close observation

Back 36

Fibrous dysplasia

Front 37

Where do bone tumors come from?

Back 37

Bone-producing cells, cartilage-producing cells, interstitial tissue; also a common site for metastasis of other malignancies

Front 38

Most frequent site of osteosarcoma

Back 38

Metaphyseal plate of long bones in the extremities (60% occurring in the knee)

Front 39

Clinical presentation of osteosarcoma

Back 39

The radiographic appearance is generally that of a large, destructive, mixed radiolucent-radiopaque lesion that may present with a “sunburst” appearance. A characteristic feature is the formation of an acute angle between the neoplastic bone and the cortex (Codman’s triangle)

Front 40

Aggressive surgery and chemotherapy is the standard treatment and results in a 5 year survival of 60%. This disease must be treated adequately the first time because once the patient has a recurrence, survival drops significantly.

Back 40

Osteosarcoma

Front 41

The "sunburst" lesion is seen in what?

Back 41

Osteosarcoma

Front 42

The fundamental feature of osteoarthritis

Back 42

The degeneration of articular cartilage; any structural changes in the underlying bone are secondary

Front 43

T/F osteoarthritis is primarily an inflammation of the joints

Back 43

False, osteoarthritis is not primarily an inflammation of the joints but may become secondarily inflamed as the process progresses

Front 44

Degenerative process of osteoarthritis

Back 44

In the early stages, the cartilage cap develops vertical fissures; these fissures extend through the full thickness to the subchondral bone => portions of the cartilage are eroded completely with exposure of the underlying bone =>Fragments of dislodged bone and cartilage often float free in the joint space and form “joint mice” => eventually, the entire surface of the bone becomes exposed, thickened and polished to an ivory-like appearance. At the margins of the joint, small bony outgrowths termed osteophytes arise and help to further inflame the surrounding synovial membrane.

Front 45

T/F Fusion of the bone occurs in osteoarthritis

Back 45

False, that occurs in RA

Front 46

T/F Aside from complete inactivity, there is no way to halt the progression of osteoarthritis

Back 46

True

Front 47

Symptoms and Tx of osteoarthritis

Back 47

- Initial symptoms typically after 50 and include crepitus (grating or popping sensation), joint stiffness and deep, aching pain, especially in the morning
- Tx: intrajoint hyaluronic acid and NSAIDs for pain

Front 48

Gout

Back 48

- Caused by uric acid buildup (idiopathic overproduction)
- Causes supersaturation and crystallization of blood => arthritis
- Tophus formation (encrusted crystals that cause chronic arthritis), kidney damage
- Adult males, great toe (90%); hands and feet too

Front 49

Renal conditions such as pyelonephritis, nephrosclerosis, tubular deposition of crystals, intertubular deposition of crystals and uric acid renal stones, advanced arteriosclerosis, hypertension and obesity also are positively associated with what?

Back 49

Gout

Front 50

Colchicine and allopurinol treat what?

Back 50

Gout

Front 51

An X-linked recessive disorder caused by the absence of a structural protein termed dystrophin and is seen in about 1/3500 live male births

Back 51

Duchenne muscular dystrophy
- male offspring of carrier females

Front 52

The process of this disease begins in the pelvis and shoulder girdles with eventual spread to the extremities. The initial signs appear in childhood and present as difficulty in standing, walking, and getting out of a chair. Despite musculature weakness, the leg muscles are often enlarged secondary to pseudohypertrophy

Back 52

Duchenne muscular dystrophy

Front 53

Symptoms and Tx for muscular dystrophy

Back 53

The signs and symptoms typically begin around age five. By their teens, most patients are confined to wheel chairs; and death usually ensues by age 20 due to cardiac involvement, weakness of muscles necessary for respiration, or from pneumonia secondary to aspiration of food associated with difficulties in swallowing

Front 54

Myasthenia Gravis

Back 54

- An autoimmune disease which results in destruction of acetylcholine receptors in the neuromuscular junction and is manifested by weakness and prominent fatigability of voluntary muscles.
- The most active muscles generally are the most severely affected, such as the muscles involved in eye movement, facial expression, chewing, swallowing and respiration

Front 55

T/F Patients with myasthenia gravis exhibit an increased prevalence of other autoimmune diseases such as systemic lupus erythematosus, rheumatoid arthritis, and Sjögren syndrome. In addition, there is a strong association with thymus abnormalities

Back 55

True

Front 56

The most common sites of initial involvement are the muscles of the eyelids (ptosis: drooping of eyelids) and the muscles controlling eye movement (diplopia: double vision)

Back 56

Myasthenia gravis

Front 57

Tx for myasthenia gravis

Back 57

The natural course of the condition is improved by thymectomy in cases of thymus hyperplasia and removal of the tumor in those with a thymoma. In addition, medications such as anticholine esterase and corticosteroids have been proven to be beneficial in many cases. In the past, respiratory compromise was a major cause of death; due to improved therapies, the current 5-year survival is 95%.

Front 58

Tx for osteopetrosis patients

Back 58

Because osteoclasts are derived from marrow monocyte precursors, bone marrow transplants hold the promise to re-populate recipients with fully functional osteoclasts

Front 59

T/F Radiographs are sufficient to diagnose osteoporosis?

Back 59

False. In the early stages, standard radiographs are not sufficiently sensitive, but the process can be confirmed by a DEXA (dual-energy x-ray absorptiometry) scan

Front 60

Microscopic features of Paget's disease

Back 60

The typical microscopic features of the disease show active osteoclastic and osteoblastic activity, many times on the same trabecula of bone. The interstitial tissue is loosely arranged and highly vascular

Front 61

Calcitonin or bisphosphonates can control the symptoms of this disease

Back 61

Paget's disease