Lab: Endocrine & Hereditary Pathology Flashcards
What is the common etiology between rickets and osteomalacia?
Vitamin D deficiency
What is the typical etiology of hypervitaminosis D?
Over supplementation
What is the typical etiology of primary hyperparathyroidism?
Parathyroid adenoma
What is the typical etiology of secondary hyperparathyroidism?
Renal failure
What is the typical etiology of hypoparathyroidism?
Idiopathic atrophy
What are the following for hypervitaminosis D?
Calcium:
PTH:
Phosphate:
Calcium: increased (hypercalcemic)
PTH: decreased
Phosphate: N/A
What are the following for hypervitaminosis D?
Urinalysis results:
Radiographic characteristics:
Urinalysis results: high calcium
Radiographic characteristics: N/A
What are the clinical manifestations of hypervitaminosis D?
- Hypercalcemia
- Nephrolithiasis (kidney stones)
- Nephrocalcinosis
- Metastatic calcifications
What are the following for primary hyperparathyroidism?
Calcium:
PTH:
Phosphate:
Calcium: increased
PTH: increased
Phosphate: decreased
What are typical urinalysis findings for primary hyperparathyroidism?
Phosphate excretion increased
What are the radiographic characteristics of primary hyperparathyroidism?
- Osteolysis
- Loss of cortical definition
- Brown tumor
- Lace-like appearance
- Soft tissue calcifications
All of the following are radiographic characteristics of which pathology?
- Osteolysis
- Loss of cortical definition
- Brown tumor
- Lace-like appearance
- Soft tissue calcifications
Primary hyperparathyroidism
The following are all clinical manifestations of which pathology?
- Hypercalcemia
- Impaired renal function/renal failure
- Kindey stones (nephrolithiasis)
- Peptic ulcers
- Musculoskeletal pain
- Fracture
- Hyporeflexia
Primary hyperparathyroidism
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?
Primary hyperparathyroidism
What are the following for renal osteodystrophy/secondary hyperparathyroidism?
Calcium:
PTH:
Phosphate:
Urinalysis:
Calcium: decreased
PTH: increased
Phosphate: increased
Urinalysis: N/A
What are the radiographic characteristics of renal osteodystrophy/secondary hyperparathyroidism?
- Rugger jersey spine
- Generalized deossification
- Trabecular accentuation
A patient presents complaining of convulsions, cramps, tingling, and a sense of general paranoia.
Based on these complaints alone, which endocrine pathologies are possible?
- Renal osteodystrophy/secondary hyperparathyroidism
- Hypoparathyroidism
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?
Renal osteodystrophy/secondary hyperparathyroidism
What are the following for hypoparathyroidism?
Calcium:
PTH:
Phosphate:
Calcium: decreased
PTH: decreased
Phosphate: increased
What are the following for hypoparathyroidism?
Urinalysis results:
Radiographic characteristics:
N/A
What are the clinical manifestations of hypoparathyroidism?
- Hypocalcemia
- Hyperreflexia
- Convulsions
- Cramps
- Tingling
- Depression
- Paranoia
- Psychosis
What are the following for pseudohypoparathyroidism?
Calcium:
PTH:
Phosphate:
Calcium: decreased
PTH: increased
Phosphate: increased
The following are radiographic characteristics of which endocrine pathology?
- Albright hereditary osteodystrophy
- Subcutaneous calcifications
- Short metacarpals and/or metatarsals
- Short stature
- Obesity
- Intellectual disability
Pseudohypoparathyroidism
What are some clinical manifestations of pseudohypoparathyroidism?
- Albright hereditary osteodystrophy
- Short stature
- Obesity
- Intellectual disability
A patient presents with the following lab results:
Serum calcium: 12.4 mg/dL
PTH: elevated
Serum phosphate: 1.1 mg/dL
Urinalysis: normal calcium excretion, elevated phosphate excretion
What is the most likely endocrine diagnosis?
Primary hyperparathyroidism
(calcium elevated, PTH elevated, phosphate decreased, phosphate excretion increased)
What are generalized signs and symptoms of hypercalcemia?
- Hyporeflexia
- Musculoskeletal pain
- Lethargy
- Muscle weakness
- Constipation
- Nausea and vomiting
- Frequent urination
Which endocrine conditions present with hypocalcemia?
- Secondary hyperparathyroidism
- Hypoparathyroidism
- Pseudohypoparathyroidism
What are the generalized signs and symptoms of hypocalcemia?
- Hyperreflexia
- Convulsion/spasms
- Paranoia
- Tingling
primary hyperparathyroidism
What are the cells at the black arrows?
Osteoclasts
primary hyperparathyroidism
Which stage of pathogenesis of bone change is depicted in this histological tissue section?
Dissecting osteitis: osteoclasts present, collagen being laid down adjacently
Given that this is dissecting osteitis, which endocrine pathology is present?
Primary hyperparathyroidism
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?
Giant cell
Osteitis fibrosa cystica
Given that this is taken from a brown tumor of osteitis fibrosa cystica, which endocrine pathology is present?
Primary hyperparathyroidism
What is pictured at the red arrow?
When does this presentation occur?
Brown tumor
Repair reaction in final stages of primary hyperparathyroidism (not neoplastic)
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?
Hyperreflexia, lethargy, cramping
Hypoparathyroidism, secondary hyperparathyroidism
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?
Hypoparathyroidism (decreased PTH, decreased calcium)
Phosphate is expected to be elevated
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?
Loss of cortical definition; lytic change/osteolysis
primary hyperparathyroidism
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?
Soft tissue calcifications due to brown tumor
primary hyperparathyroidism
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?
Primary hyperparathyroidism
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?
PTH: elevated
Urinalysis: increased phosphate
primary hyperparaythyroidism
If this patient’s condition were left untreated, what other radiographic evidence might we see?
- Osteolysis (pictured)
- Loss of cortical definition (pictured)
- Lace-like appearance
- Brown tumor and soft tissue calcifications (pictured)
primary hyperparathyroidism
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?
Bilateral
primary hyperparathyroidism
What is demonstrated by the following?
Blue arrow:
Purple arrow:
Red arrow:
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
Based on the bony changes in this patient, they have ___
acromegaly
What is demonstrated at the red arrow?
What is demonstrated in the soft tissues?
Red arrow: spade-shape of distal phalanges
Soft tissues: radiopaque/swollen
acromegaly
Based on the presentation of soft tissue and bony change at the red arrow, this patient likely has ___
acromegaly
What is indicated by the red arrow?
What is the most common etiology of this condition?
Red arrow: increased heel pad thickness
Etiology: acromegaly
Which hormone is impacted by acromegaly?
Growth hormone
This thick heel pad commonly presents with acromegaly.
What are other signs and symptoms might you note during examination of a patient with acromegaly?
- Skin tags
- Sweat
- Deepened voice
- Limited joint mobility
- Vision changes
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?
Red arrows: wavy cortical lines (bilateral)
May be achondroplasia
What is the presentation of this 5-year-old hand?
Normal presentation
What is unusual about the growth plates in this skeletally immature patient?
What other differences make this image abnormal?
Growth plates not well defined and prematurely closed
More soft tissue, shorter and thicker bones
achondroplasia
If your patient has an immediate family history of FGPR3 mutation along with this radiograph, you know they have ___
achondroplasia
This is a skeletally immature individual with achondroplasia.
What is the etiology of the changes seen in this radiograph?
Decreased chondrocyte proliferation and growth due to FGPR3 mutation
This patient is skeletally mature, but is too long and thin to be visualized on one radiographic film.
What pathology is likely?
Marfan syndrome
This patient has a systemic issue causing their bones to be long and thin.
What pathology causes this issue?
Marfan’s syndrome
If this patient has Marfan’s syndrome, what is the term for this abnormality?
Arachnodactyly: thin, elongated bones of hands
Marfan’s syndrome
What is the wrist sign?
Tip of thumb covers entire fingernail of 5th finger when hand is wrapped around the wrist
Marfan’s syndrome
What angle is considered diagnostic when reduced elbow extension is observed?
170 degrees
Marfan’s syndrome
What arm span to height ratio is considered diagnostic for Marfan’s?
> 1.05
What type of chest wall deformities are common with Marfan’s?
Pectus carinatum (can be excavatum)
What considerations should you take when preparing a treatment plan for a patient with Marfan’s syndrome?
Hypermobility and ligamentous laxity
What signs and symptoms carry the most severe clinical consequences for patients with Marfan’s syndrome?
Cardiovascular issues
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?
Marfan’s syndrome
Most worried about cardiovascular issues
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?
Very dense (very radiopaque)
osteopetrosis
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?
Erlenmeyer flask deformity
Secondary problem may be pathological fracture
osteopetrosis
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?
Sandwich vertebra
Osteopetrosis
What would this individual’s calcium levels be?
How might you treat this condition?
Poor calcium homeostasis causes hypocalcemia
Increasing calcium would make them less prone to fracture, do so with vitamin D supplementation
