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Musculoskeletal Physiopathology > Lab: Endocrine & Hereditary Pathology > Flashcards

Lab: Endocrine & Hereditary Pathology Flashcards

1
Q

What is the common etiology between rickets and osteomalacia?

A

Vitamin D deficiency

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2
Q

What is the typical etiology of hypervitaminosis D?

A

Over supplementation

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3
Q

What is the typical etiology of primary hyperparathyroidism?

A

Parathyroid adenoma

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4
Q

What is the typical etiology of secondary hyperparathyroidism?

A

Renal failure

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5
Q

What is the typical etiology of hypoparathyroidism?

A

Idiopathic atrophy

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6
Q

What are the following for hypervitaminosis D?

Calcium:
PTH:
Phosphate:

A

Calcium: increased (hypercalcemic)
PTH: decreased
Phosphate: N/A

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7
Q

What are the following for hypervitaminosis D?

Urinalysis results:
Radiographic characteristics:

A

Urinalysis results: high calcium
Radiographic characteristics: N/A

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8
Q

What are the clinical manifestations of hypervitaminosis D?

A
  • Hypercalcemia
  • Nephrolithiasis (kidney stones)
  • Nephrocalcinosis
  • Metastatic calcifications
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9
Q

What are the following for primary hyperparathyroidism?

Calcium:
PTH:
Phosphate:

A

Calcium: increased
PTH: increased
Phosphate: decreased

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10
Q

What are typical urinalysis findings for primary hyperparathyroidism?

A

Phosphate excretion increased

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11
Q

What are the radiographic characteristics of primary hyperparathyroidism?

A
  • Osteolysis
  • Loss of cortical definition
  • Brown tumor
  • Lace-like appearance
  • Soft tissue calcifications
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12
Q

All of the following are radiographic characteristics of which pathology?

  • Osteolysis
  • Loss of cortical definition
  • Brown tumor
  • Lace-like appearance
  • Soft tissue calcifications
A

Primary hyperparathyroidism

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13
Q

The following are all clinical manifestations of which pathology?

  • Hypercalcemia
  • Impaired renal function/renal failure
  • Kindey stones (nephrolithiasis)
  • Peptic ulcers
  • Musculoskeletal pain
  • Fracture
  • Hyporeflexia
A

Primary hyperparathyroidism

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14
Q

A patient comes to the chiropractor reporting musculoskeletal pain amongst some loin to groin pain and other indications of kidney involvement. Upon examination, the patient is found to be hyporeflexic. The patient is sent for further testing to support a differential diagnosis. Tests come back to reveal the patient has hypercalcemia, kidney stones, peptic ulcers, and evidence of past microfractures.

What is the likely diagnosis?

A

Primary hyperparathyroidism

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15
Q

What are the following for renal osteodystrophy/secondary hyperparathyroidism?

Calcium:
PTH:
Phosphate:
Urinalysis:

A

Calcium: decreased
PTH: increased
Phosphate: increased
Urinalysis: N/A

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16
Q

What are the radiographic characteristics of renal osteodystrophy/secondary hyperparathyroidism?

A
  • Rugger jersey spine
  • Generalized deossification
  • Trabecular accentuation
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17
Q

A patient presents complaining of convulsions, cramps, tingling, and a sense of general paranoia.
Based on these complaints alone, which endocrine pathologies are possible?

A
  • Renal osteodystrophy/secondary hyperparathyroidism
  • Hypoparathyroidism
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18
Q

A patient’s blood tests show decreased calcium, and increased PTH and phosphate. Their radiographs demonstrate a characteristic “rugger jersey” spine, generalized deossification, and trabecular accentuation.

What is the most likely diagnosis?

A

Renal osteodystrophy/secondary hyperparathyroidism

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19
Q

What are the following for hypoparathyroidism?

Calcium:
PTH:
Phosphate:

A

Calcium: decreased
PTH: decreased
Phosphate: increased

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20
Q

What are the following for hypoparathyroidism?

Urinalysis results:
Radiographic characteristics:

A

N/A

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21
Q

What are the clinical manifestations of hypoparathyroidism?

A
  • Hypocalcemia
  • Hyperreflexia
  • Convulsions
  • Cramps
  • Tingling
  • Depression
  • Paranoia
  • Psychosis
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22
Q

What are the following for pseudohypoparathyroidism?

Calcium:
PTH:
Phosphate:

A

Calcium: decreased
PTH: increased
Phosphate: increased

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23
Q

The following are radiographic characteristics of which endocrine pathology?

  • Albright hereditary osteodystrophy
  • Subcutaneous calcifications
  • Short metacarpals and/or metatarsals
  • Short stature
  • Obesity
  • Intellectual disability
A

Pseudohypoparathyroidism

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24
Q

What are some clinical manifestations of pseudohypoparathyroidism?

A
  • Albright hereditary osteodystrophy
  • Short stature
  • Obesity
  • Intellectual disability
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25
Q

A patient presents with the following lab results:

Serum calcium: 12.4 mg/dL
PTH: elevated
Serum phosphate: 2.1 mg/dL
Urinalysis: normal calcium excretion, elevated phosphate excretion

What is the most likely endocrine diagnosis?

A

Primary hyperparathyroidism
(calcium elevated, PTH elevated, phosphate decreased, phosphate excretion increased)

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26
Q

What are generalized signs and symptoms of hypercalcemia?

A
  • Hyporeflexia
  • Musculoskeletal pain
  • Lethargy
  • Muscle weakness
  • Constipation
  • Nausea and vomiting
  • Frequent urination
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27
Q

Which endocrine conditions present with hypocalcemia?

A
  • Secondary hyperparathyroidism
  • Hypoparathyroidism
  • Pseudohypoparathyroidism
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28
Q

What are the generalized signs and symptoms of hypocalcemia?

A
  • Hyperreflexia
  • Convulsion/spasms
  • Paranoia
  • Tingling
29
Q

primary hyperparathyroidism

What are the cells at the black arrows?

A

Osteoclasts

30
Q

primary hyperparathyroidism

Which stage of pathogenesis of bone change is depicted in this histological tissue section?

A

Dissecting osteitis: osteoclasts present, collagen being laid down adjacently

31
Q

Given that this is dissecting osteitis, which endocrine pathology is present?

A

Primary hyperparathyroidism

32
Q

This is a section taken from a brown tumor.
What is the cell at the red arrow?
What stage of primary hyperparathyroidism is associated with this development?

A

Giant cell
Osteitis fibrosa cystica

33
Q

Given that this is taken from a brown tumor of osteitis fibrosa cystica, which endocrine pathology is present?

A

Primary hyperparathyroidism

34
Q

What is pictured at the red arrow?
When does this presentation occur?

A

Brown tumor
Repair reaction in final stages of primary hyperparathyroidism (not neoplastic)

35
Q

Your patient is a 40-year-old male with lower back pain from an old work-related injury. He reports feeling tired and down for a few weeks. He has a slight spontaneous twitch in his arm and you document hyperreflexia on a patellar reflex test.
What are your patient’s relevant signs and symptoms?
What endocrine pathologies are included in your initial differential diagnosis?

A

Hyperreflexia, lethargy, cramping
Hypoparathyroidism, secondary hyperparathyroidism

36
Q

Your 40-year-old male patient reports feeling very tired and has noticed that his throat tightens or spasms sometimes. Blood results present as follows:

ESR: normal
Alkaline phosphatase: normal
PTH: decreased
Calcium: 7.6 mg/dL

What condition from your differential diagnosis seems most likely?
What would you expect phosphate levels to be in that case?

A

Hypoparathyroidism (decreased PTH, decreased calcium)
Phosphate is expected to be elevated

37
Q

These radiographs were taken from a 50-year-old male who presented to the clinic with symptoms of muscle weakness and pain in his hands. Patient was hyporeflexive and had a previous history of peptic ulcers and kidney stones. Vitamin D levels were normal.

What are the bony abnormalities/changes in the digits?

A

Loss of cortical definition; lytic change/osteolysis

primary hyperparathyroidism

38
Q

These radiographs were taken from a 50-year-old male who presented to the clinic with symptoms of muscle weakness and pain in his hands. Patient was hyporeflexive and had a previous history of peptic ulcers and kidney stones. Vitamin D levels were normal.
What are the changes in the soft tissues?

A

Soft tissue calcifications due to brown tumor

primary hyperparathyroidism

39
Q

These radiographs were taken from a 50-year-old male who presented to the clinic with symptoms of muscle weakness and pain in his hands. Patient was hyporeflexive and had a previous history of peptic ulcers and kidney stones. Vitamin D levels were normal.
Which pathology most resembles this patient’s case?

A

Primary hyperparathyroidism

40
Q

These radiographs were taken from a 50-year-old male who presented to the clinic with symptoms of muscle weakness and pain in his hands. Patient was hyporeflexive and had a previous history of peptic ulcers and kidney stones. Vitamin D levels were normal.
What are the expected results of PTH levels and urinalysis in this patient?

A

PTH: elevated
Urinalysis: increased phosphate

primary hyperparaythyroidism

41
Q

If this patient’s condition were left untreated, what other radiographic evidence might we see?

A
  • Osteolysis (pictured)
  • Loss of cortical definition (pictured)
  • Lace-like appearance
  • Brown tumor and soft tissue calcifications (pictured)

primary hyperparathyroidism

42
Q

These radiographs were taken from a 50-year-old male who presented to the clinic with symptoms of muscle weakness and pain in his hands. Patient was hyporeflexive and had a previous history of peptic ulcers and kidney stones. Vitamin D levels were normal.
Are symptoms likely unilateral or bilateral?

A

Bilateral

primary hyperparathyroidism

43
Q

What is demonstrated by the following?

Blue arrow:
Purple arrow:
Red arrow:

A

Blue arrow: glabellar enlargement
Purple arrow: underbite, increased prognathism and dental changes due to increased growth hormone
Red arrow: goiter, thyroid enlargement with calcification

acromegaly

44
Q

Based on the bony changes in this patient, they have ___

A

acromegaly

45
Q

What is demonstrated at the red arrow?
What is demonstrated in the soft tissues?

A

Red arrow: spade-shape of distal phalanges
Soft tissues: radiopaque/swollen

acromegaly

46
Q

Based on the presentation of soft tissue and bony change at the red arrow, this patient likely has ___

A

acromegaly

47
Q

What is indicated by the red arrow?
What is the most common etiology of this condition?

A

Red arrow: increased heel pad thickness
Etiology: acromegaly

48
Q

Whcih hormone is impacted by acromegaly?

A

Growth hormone

49
Q

This thick heel pad commonly presents with acromegaly.
What are other signs and symptoms might you note during examination of a patient with acromegaly?

A
  • Skin tags
  • Sweat
  • Deepened voice
  • Limited joint mobility
  • Vision changes
50
Q

This radiograph is of a 5-year-old male patient presenting for an annual physical.
What is seen at the red arrows?
What might contribute to this appearance?

A

Red arrows: wavy cortical lines (bilateral)
May be achondroplasia

51
Q

What is the presentation of this 5-year-old hand?

A

Normal presentation

52
Q

What is unusual about the growth plates in this skeletally immature patient?
What other differences make this image abnormal?

A

Growth plates not well defined and prematurely closed
More soft tissue, shorter and thicker bones

achondroplasia

53
Q

If your patient has an immediate family history of FGPR3 mutation along with this radiograph, you know they have ___

A

achondroplasia

54
Q

This is a skeletally immature individual with achondroplasia.
What is the etiology of the changes seen in this radiograph?

A

Decreased chondrocyte proliferation and growth due to FGPR3 mutation

55
Q

This patient is skeletally mature, but is too long and thin to be visualized on one radiographic film.
What pathology is likely?

A

Marfan syndrome

56
Q

This patient has a systemic issue causing their bones to be long and thin.
What pathology causes this issue?

A

Marfan’s syndrome

57
Q

If this patient has Marfan’s syndrome, what is the term for this abnormality?

A

Arachnodactyly: thin, elongated bones of hands

58
Q

Marfan’s syndrome

What is the wrist sign?

A

Tip of thumb covers entire fingernail of 5th finger when hand is wrapped around the wrist

59
Q

Marfan’s syndrome

What angle is considered diagnostic when reduced elbow extension is observed?

A

170 degrees

60
Q

Marfan’s syndrome

What arm span to height ratio is considered diagnostic for Marfan’s?

A

> 1.05

61
Q

What type of chest wall deformities are common with Marfan’s?

A

Pectus carinatum (can be excavatum)

62
Q

What considerations should you take when preparing a treatment plan for a patient with Marfan’s syndrome?

A

Hypermobility and ligamentous laxity

63
Q

What signs and symptoms carry the most severe clinical consequences for patients with Marfan’s syndrome?

A

Cardiovascular issues

64
Q

Patient presents with a noticeable tall and slim stature. Upon examination, they are generally hypermobile, however they have reduced elbow extension of about 165 degrees. Upon further examination of their arms, they have an arm to height ratio of 1.08. Their fingers are noticeably long and when asked to wrap one hand around the other wrist, their thumb covers the fingernail of their fifth finger.
What is the diagnosis?
What are you most worried about for this patient?

A

Marfan’s syndrome
Most worried about cardiovascular issues

65
Q

A 1-year-old child is brought to the doctor with pain and a suspected fracture.
What’s noticeable about the density of the patient’s bones?

A

Very dense (very radiopaque)

osteopetrosis

66
Q

The left image is your 1-year-old patient. Notice a dense cortex and medullary cavity, almost equally radiopaque.
What terminology describes the changes on the distal femurs?
What is a secondary problem to this observation?

A

Erlenmeyer flask deformity
Secondary problem may be pathological fracture

osteopetrosis

67
Q

This is your 1-year-old patient.
What is the terminology for these changes in the appearance of the spine?
What condition is the most likely diagnosis?

A

Sandwich vertebra
Osteopetrosis

68
Q

What would this individual’s calcium levels be?
How might you treat this condition?

A

Poor calcium homeostasis causes hypocalcemia
Increasing calcium would make them less prone to fracture, do so with vitamin D supplementation

Musculoskeletal Physiopathology (32 decks)

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