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61 Cards in this Set

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T/F Bone pathology can include metabolic disease, infections, and tumors
True
This is a group of hereditary conditions characterized by abnormal development of type I collagen
Osteogenesis Imperfecta AKA "brittle bone disease"
Osteogenesis Imperfecta
- 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)
A group of rare hereditary disorders characterized by deficient osteoclastic activity w/ resultant defective bone remodeling
Osteopetrosis AKA "marble bone disease"
Osteopetrosis
- 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.
__ and __ are hereditary bone diseases
Osteogenesis imperfecta and osteopetrosis
A disease resulting from reduced bone mass with an associated bone fragility and increased prevalence of fractures; generalized or localized
Osteoporosis
Generalized osteoporosis arises from what?
Is secondary to a wide variety of pathoses
95% of osteoporosis cases are primary. What is it associated w/ and how is it caused?
- 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.
Between what ages is there a balance between bone resorption and apposition w/ no net gain?
35-40
Between what ages is the time of peak bone mass?
25-30
T/F after the age of 50, there is gradual attrition of bone
False, age 40
Why are women more vulnerable to bone loss?
Females are more vulnerable because, on average, their skeletons are more delicate than men’s throughout life.
What type of bone exhibits the most severe osteoporotic involvement?
Those containing abundant cancellous bone (i.e. spine and femoral head)
Common sites for osteoporosis involvement and common complications
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.
Therapies for osteoporosis
- 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.
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
Paget's disease AKA "osteitis deformans"
Paget's Disease
- 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
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.
Paget's disease
Clinical manifestations of Paget's disease
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).
Diagnosing Paget's disease demonstrating elevated levels of __ ___ and serum __ __
Urinary hydroxyproline (increased bone resorption) and alkaline phosphate (increased bone apposition)
Hyperparathyroidism
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
Why do patients w/ hyperparathyroidism experience skeletal changes?
Due to activation of osteoclast
Primary Hyperparathyroidism
- 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
"Painful bones, renal stones, abdominal groans, and psychic moans" are a constellation of symptoms of what disease?
Primary hyperparathyroidism
Secondary Hyperparathyroidism
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
Mechanism of secondary hyperparathyroidism
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
Renal failure is the most common cause of this?
Secondary Hyperparathyroidism
Refers to an infection spreading through the medullary spaces of bone
Osteomyelitis
- hematogenous spread
- contiguous infection
- direct trauma
* Staphylococcus aureus most frequently seen to cause
Symptoms and treatment for osteomyelitis
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.
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
Fibrous dysplasia
Monostotic Fibrous Dysplasia
- 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
Polyostotic Fibrous Dysplasia w/o endocrine involvement (Jaffe Syndrome)
- 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.
Polyostotic Fibrous Dysplasia w/ endocrine involvement (McCune-Albright Syndrome)
- 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)
"Chinese characters" are what and seen in what disorder?
- 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
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
Fibrous dysplasia
Where do bone tumors come from?
Bone-producing cells, cartilage-producing cells, interstitial tissue; also a common site for metastasis of other malignancies
Most frequent site of osteosarcoma
Metaphyseal plate of long bones in the extremities (60% occurring in the knee)
Clinical presentation of osteosarcoma
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)
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.
Osteosarcoma
The "sunburst" lesion is seen in what?
Osteosarcoma
The fundamental feature of osteoarthritis
The degeneration of articular cartilage; any structural changes in the underlying bone are secondary
T/F osteoarthritis is primarily an inflammation of the joints
False, osteoarthritis is not primarily an inflammation of the joints but may become secondarily inflamed as the process progresses
Degenerative process of osteoarthritis
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.
T/F Fusion of the bone occurs in osteoarthritis
False, that occurs in RA
T/F Aside from complete inactivity, there is no way to halt the progression of osteoarthritis
True
Symptoms and Tx of osteoarthritis
- 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
Gout
- 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
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?
Gout
Colchicine and allopurinol treat what?
Gout
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
Duchenne muscular dystrophy
- male offspring of carrier females
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
Duchenne muscular dystrophy
Symptoms and Tx for muscular dystrophy
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
Myasthenia Gravis
- 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
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
True
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)
Myasthenia gravis
Tx for myasthenia gravis
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%.
Tx for osteopetrosis patients
Because osteoclasts are derived from marrow monocyte precursors, bone marrow transplants hold the promise to re-populate recipients with fully functional osteoclasts
T/F Radiographs are sufficient to diagnose osteoporosis?
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
Microscopic features of Paget's disease
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
Calcitonin or bisphosphonates can control the symptoms of this disease
Paget's disease