Module 6: Gout, Pseudogout, Bone Tumors Flashcards

1
Q

First topic in this set is Gout, what is the etiology?

A

Idiopathic (aka unknown)

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2
Q

What are the pre-disposing factors for Gout?

A
Obesity 
Red Wine 
Red Meat 
Alcohol 
Lesch Nyhan (HGPRT deficiency) 
Thiazides
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3
Q

Explain the connection between Gout and hyperuricemia?

A

High uric acid levels does not always lead to gout, but to get gout, you must have had high uric acid levels

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4
Q

What are the factors for gout in regards to secondary and primary gout?

A

Primary (90%): unknown enzyme defect + HGPRT deficiency

Secondary (10%): increased NA turnover (leukemia), chronic renal disease, inborn errors of metabolism

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5
Q

What is the pathogenesis for gout?

A

Macrophages engulf uric acid crystals – complement activation –brings in neutrophils (Sign of acute inflammation)

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6
Q

What is acute gout?

A

Edematous soft tissue with acute inflammation (PMNs and Macrophages with phagocytized urate crystals) — deposition of crystal in areas of low temp

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7
Q

What is chronic gout?

A

Form Tophi in articular cartilage of joints and soft tissue; foreign body type of granulomatous inflammation

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8
Q

What investigation is done for Gout?

A

Joint aspiration/atherocentesis

–yellow, negative birefringerence under plane polarized light

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9
Q

What are features of gout?

A
Monosodium Urate Crystals 
Loves first metatarsal joint 
Negatively birefringement 
Needle shaped crystals 
Yellow crystals
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10
Q

What is the etiology of pseudogout?

A

Hereditary: linked to chromosome 8 (ANKH gene, encodes transmembrane pyrophosphate transport channel)
Secondary: trauma, diabetes, amyloidosis, hyperparathyroidism, hemochromatosis
Idiopathic (sporadic)

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11
Q

What are features of pseudogout?

A
Calcium pyrophosphate crystals 
Loves the knee 
Positive birefringement 
Rhomboid Crystals 
Blue crystals
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12
Q

What is tumoral calcinosis?

A

Increased serum levels of calcium

  • -may be seen in children
  • -massive accumulations of hydroxyapatite crystals
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13
Q

The rest of the cards will be about bone tumors, what are the tumors of the diaphysis, metaphysis and epiphysis?

A

Diaphysis: Ewing’s Sarcoma (malignant) and Adamantinoma (malignant tumor of fibro-osseous)
Metaphysis: Osteosarcoma (malignant tumor of bone), Chondrosarcoma (malignant tumor of cartilage), Osteochondroma (benign tumor of cartilage), Aneurysmal Bone cyst (Benign) and Enchondroma (benign tumor of cartilage)
Epiphysis: Chondroblastoma (benign tumor of cartilage) and Giant cell tumor (benign tumor)

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14
Q

What is the most common malignant tumor of the bone?

A

Metastatic Tumor to the bone

—Increased serum calcium

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15
Q

What are the common sites of the primary cancer that metastatizes to the bone?

A
Breast 
Lung 
Thyroid 
Kidney 
Prostate
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16
Q

The first tumor of the bone is Osteoid Osteoma (benign). What is the etiology?

A

Tumor of young males

17
Q

What is the presentation for osteoid osteoma?

A

Predilection for appendicular skeleton

Nocturnal pain alleviated by aspirin

18
Q

The next benign tumor of mature bone is Osteoma. What is the pathogenesis?

A

Gardner’s syndrome: FAP + multiple osteomas, desmoid tumors and epidermal cysts

19
Q

What is the presentation for osteoma?

A

Predilection for craniofacial bones

20
Q

The first malignant tumor of the bone is Osteosarcoma. What is the etiology?

A

Malignant Sarcoma of Osteoblasts (mesenchymal origin) — lay down osteoid
Mostly Primary: mutation in p53 or Rb
–seen in teenagers (may have a history of bilateral retinoblastoma as a child)
Secondary: following Paget’s Disease or radiation
–seen in flat bones of older patients (40-50s)

21
Q

Osteosarcoma affects what part of the bone?

A

Metaphysis in distal femur/proximal tibia

–around the knee joint

22
Q

What is the presentation for osteosarcoma?

A

Pathological fracture in whichever bone affected = bone pain
–rapidly enlarging soft tissue mass (tumor invades soft tissue around bone)

23
Q

Explain the anatomical locations for osteosarcoma and the relation to grading?

A

Intramedullary (low grade)
Intracortical (high grade)
Juxtacortical (low or hight grade)

24
Q

On x-ray what is seen in patients with osteosarcoma? slide 11

A

Codman’s Triangle (elevation of periosteum) and reactive bone formation (sunburst appearance)

25
Q

What is seen on bone biopsy in patients with osteosarcoma? slide 12?

A

Lace like osteoid laid down malignant osteoblasts

26
Q

What ares the complications of Osteosarcoma?

A

Aggressive

  • -can invade and mets through blood — lungs
  • cannon ball lesions on CXR
  • –hemoptysis and resp failure
27
Q

The first benign tumor of cartilage of metaphysis is Osteochondroma. What is the presentation?

A

Seen in young adults

-affects bones with endochondral ossification

28
Q

What is the pathogenesis for osteochondroma?

A

Arises from displaced fragments of the growth plate –clonal proliferation

29
Q

Moving on to the next benign tumor of cartilage of metaphysis is Enchondroma, what is found on xray?

A

Incidental finding of O ring sign

  • -cartilage in the middle (radiolucent not calcified)
  • -tumor surrounded by rim of periosteal bone reaction (White ring)
30
Q

What is the etiology of Enchondroma?

A

Found in 20-40 year olds

–found in medullary cavity but may erode (Not invade) cortex

31
Q

What is the pathogenesis for enchondroma?

A

Benign tumor of cartilage (hyaline and myxoid) in metaphysis of short tubular bones of the hands and feet

32
Q

What is the presentation for enchondroma?

A

Asymptomatic finding on xray

33
Q

What is seen on biopsy (Best investigation) for a enchondroma?

A

Well differentiated normal chondrocytes

34
Q

What are the complications for enchondroma?

A

Can lead to pathological fractures = bone pain
Multiple (enchondromatosis) – increased risk of chondrosarcoma
–Ollier’s Disease: multiple enchondromas on one side of the body; 20% develop chondrosarcoma
–Maffucci Syndrome: multiple enchondromas bilaterally – more disfiguring, chondrosarcoma (20%) and 100% chance of extra articular tumors: soft tissue angiomas, CNS gliomas, and ovarian carcinomas

35
Q

The first malignant tumor of cartilage is chondrosarcoma, what is the etiology?

A

Malignant tumor of chondrocytes

  • -affects 30-60 year olds
  • -can follow Ollier’s or Maffuci and arise from metaphysis
  • -majority arise sporadically from the metaphysis
36
Q

What is the pathogenesis for chondrosarcoma?

A

Tumor is juxtacortical

Affects axial skeleton: pelvis, proximal humerus and proximal femur

37
Q

What is seen on biopsy in a patient with chondrosarcoma?

A

Malignant chondrocytes with atypica — come together to form tumor giant cells

  • -high N:C ratio
  • -nuclear hyperchromatism
  • -form multinucleated tumor giant cells
38
Q

What is seen on x-ray in patient with chondrosarcoma?

A

Radiolucent mass (b/c its cartilage)

39
Q

What are the complications of a chondrosarcoma?

A

Bone pain and pathological fractures
-highly invasive – spreads through blood to lungs – hemoptysis
De novo is more common
–spreads through medullary cavity and this gives you pancytopenia