Food allergies & insensitivities, metabolic disorders

Question 1

Sx of food intolerance

Answer 1

Gas
Bloating
Abd pain
Diarrhea

Question 2

Sx of food allergy

Answer 2

Immediate

Pruritis, urticaria, flushing, angioedema, N/V/D, cramping, wheezing, syncope, hypotension

Question 3

What is lactase?

Answer 3

Enzyme that breaks down lactose to glucose & galactose

Question 4

Where is glucose & galactose typically absorbed? What if lactose is not absorbed?

Answer 4

In the small intestine

Passes into colon

Question 5

In the colon, what is lactose converted into?

Answer 5

Fatty acid & hydrogen gas by intestinal bacteria

Question 6

How does lactose intolerance present?

Answer 6

Abd pain 
Bloating 
Flatulence 
Diarrhea 
Borborygmi

Question 7

How do you dx lactose intolerance?

Answer 7

Sx after lactose ingestion
Sx resolve w/ avoidance

Lactose hydrogen breath test

Question 8

How do you treat lactose intolerance?

Answer 8

Lactose free diet
Lactase replacement
Monitor Ca, Vit D

Question 9

What is G6PD deficiency?

Answer 9

Genetic defect in G6PD (a RBC enzyme that generates NADPH & protects RBCs from oxidative injury)

X-linked

Question 10

What is G6PD deficiency a/w?

Answer 10

Hemolytic anemia

Question 11

How does G6PD deficiency present?

Answer 11

Asx until a trigger causes hemolysis

Jaundice, pallor, dark urine, abd pain, back pain

Normocytic anemia

Question 12

What does G6PD deficiency look like on peripheral smear?

Answer 12

“Bite cells”, Heinz bodies

Question 13

How do you treat G6PD deficiency?

Answer 13

Avoid oxidative stress
Remove offending agent
Hydrate
Tranfusion for severe anemia

Question 14

What is paget disease of the bone?

Answer 14

localized area of increased bone turnover –> overgrowth

Increases osteoclast & osteoblast activity

Question 15

What causes paget disease of the bone?

Answer 15

Idiopathic

Genetic

Question 16

What is the clinical presentation of paget disease of the bone?

Answer 16

Usually asx

Pain (worse in PM & w/ WB)

Bowed tibias, kyphosis, “chalkstick” fx, HA, increased hat size

Question 17

How do you dx paget disease of the bone?

Answer 17

Alk phos: elevated
Bone turnover markers
Ca
25-OH vit D
Bone scintigraphy

Question 18

How do you treat paget disease of the bone?

Answer 18

Asx: monitor

Bisphosphonates (IV zoledronate)

Question 19

What are complications of paget disease of the bone?

Answer 19

Hypercalcemia
Renal calculi 
High output HF
Arthritis 
CN palsies
Vascular steal syndrome
Radiculopathy or paralysis
Bone tumors

Question 20

What are rickets?

Answer 20

Deficiency of Ca or phosphate –> altered bone growth

Question 21

What are the typical locations where rickets is noticed?

Answer 21

Distal forearm
Knee
Costochondral junction

Question 22

What causes rickets?

Answer 22

Decreased intake

Malabsorption

Increased excretion of Ca, phosphate, or vit D

Question 23

How does rickets present?

Answer 23

Bowing of extremities
Fx
Proximal myopathy

Question 24

What labs are used for dx of rickets?

Answer 24

Alk phos: elevated
Phosphorus: low
Ca: low or normal
PTH: elevated 
25-OH vit D

Question 25

What does rickets look like on xray?

Answer 25

Widened growth plate

Decreased radiopacity

If it occurs after growth plate closure –> decreased cortical thickness

Question 26

How do you treat rickets?

Answer 26

Treat underlying d/o

Vit D & Ca replacement