GI Metabolic, Nutrition, Food Allergy DOs

Question 1

what is PKU and PP behind it?

Answer 1

autosomal recessive disorder of amino acid metabolism (unable to metabolize phenylalanine and builds up in urine and blood)
PP = deficiency in phenylalanine hydroxylase that converts phenylalanine to tyrosine

Question 2

CP, Dx, and Tx for PKU

Answer 2

CP: presents a little bit after birth once foods are introduced with poor feeding, vomiting, musty odor (urine), light sensitivity, inc DTRs, mental delays
*blonde, blue eyed children MC
Dx: increased serum phenyalanine
*newborn screen performed in US
Tx: lifetime restriction of foods with phenyalanine (milk, cheese, nuts, chicken, meats, eggs, legumes) + supplemental tyrosine

Question 3

what is paget’s disease? biggest RF?

Answer 3

abnormal bone remodeling seen in aging bone (increased osteoclastic and osteoblastic activity) = leads to larger, weaker bones
RF: western european descent, 40% AD

Question 4

CP of paget’s disease?

Answer 4

MOST ARE AS (70%), found incidentally

If sxs, BONE PAIN MC, bowing deformities, skull enlargement (deafness, headache)

Question 5

Dx and Tx of paget’s disease

Answer 5

Dx: isolated high alk phos (normal Ca, PTH, and phosphate levels)
Skull XR: “cotton wool appearance”- poorly defined and fluffy sclerotic patches (thickened and disorganized trabeculae)
Tx: AS pts don’t require tx, sxs pts given bisphosphonates (inhibit osteoclast and blast activity), plus vit D and C supplements

Question 6

what is ricket’s and what is it usually due to?

Answer 6

*usually due to vit D deficiency during early life (when ca needs are high) + decreased sun exposure
Often not seen in US

Question 7

CP, dx, and Tx of ricket’s?

Answer 7

CP: delayed fontanel closure, genu varum (LATERAL bowing), delayed dentition, growth delays
Dx: classic labs are dec Ca, phosphate, and vit D (inc PTH and alk phos)
XR: costochondral junction enlargement, long bones have fuzzy cortex
Tx: vitamin D supplementation (ergocalciferol)

Question 8

what happens in vitamin D deficiency? CP? how to Dx and Tx?

Answer 8

low bone turnover + decreased osteoid mineralization (osteomalacia) and/or DECREASED CARTILAGE AT GROWTH PLATES (RICKET’s)
CP: muscle aches, diffuse pain, periosteal pain with pressure, bowing of legs
Dx: serum 25-OH Vit D level (<20 is deficiency)
Tx: vit D supplementation (ergocalciferol)

Question 9

what is osteomalacia? how to dx this?

Answer 9

severe vit D deficiency which leads to demineralization of bone osteoid (“soft bones”)- MC
Dx: XR shows “looser lines” (zones) which are transverse pseudo fracture lines

Question 10

what are the fat soluble vitamins?

Answer 10

A, D, E, K

Question 11

who gets Vitamin A deficiency? what is the CP for vitamin A deficiency? how to dx and tx?

Answer 11

RF: alcoholics, liver dz, fat free diets
Vision changes: night blindness, dry eyes
dry mouth, dry hair, brittle nails
squamous metaplasia (eyes- “bitot’s spots”, respiratory, urinary)
Dx: decreased serum retinol levels or retinol binding protein
Tx: supplementation of vit A in diet or pills (liver, beef, chicken, eggs, greens)

Question 12

common CP finding of acute vit A toxicity?

Answer 12

idiopathic intracranial HTN

Question 13

vitamin B2 is called what? CP for deficiency?

Answer 13

riboflavin
ORAL = MAGENTA tongue, oral lesions, glossitis, angular cheilitis
OCULAR = photophobia, corneal lesions
GENITAL = scrotal dermatitis

Question 14

what is vitamin C deficiency called? who gets this? common CP?

Answer 14

RF: alcoholics, elderly, malnourished
CP: 3 H’s
1). hyperkeratosis: hyperkerototic areas on skin
2). hemorrhage: vascular fragility with recurrent hemorrhages (gums, skin (petechiae), joints)
3). hematologic: anemia, increased bleeding
*POOR WOUND HEALING

Question 15

how to dx and tx vit C deficiency?

Answer 15

dx: low serum ascorbic acid levels
tx: replacement of levels

Question 16

what is the common clinical manifestation of vitamin K deficiency?

Answer 16

BLEEDING

*common in newborns: why they get IM shot upon birth

Question 17

what common sxs present with vit E deficiency? how to dx and tx this?

Answer 17

CP: NEURO sxs (nerve and muscle damage)

dx: serum alpha-tocopherol levels
tx: address underlying cause

Question 18

Vitamin B6 deficiency: common in what patients? clinical sxs? how to tx?

Answer 18

common in pts taking ISONIZAD (TB med) and alcoholics
CP: neuro sxs (peripheral neuropathy, HA, mood changes, seizures), microcytic anemia
Tx: supplement B6 esp with isoniazid med

Question 19

when considering vitamin deficiencies, what are the three likely options of why there is not enough in the body?

Answer 19

1) . decreased ingestion
2) . decreased absorption
3) . increased requirement

Question 20

what is Kwashiorkor?

Answer 20

protein deficiency with adequate caloric intake

*often child who presents with edema (swollen head and belly)

Question 21

what is marasmus?

Answer 21

protein and caloric intake deficiencies (VERY thin person)

Question 22

what are 3 sources of B3 and two common causes of Vitamin B3 deficiency?

Answer 22

Niacin deficiency
sources: meats, legumes, grains
RF: diets high in untreated corn (lack tryptophan) or alcoholics

Question 23

CP for vitamin B3 deficiency

Answer 23

PELLAGRA: 3 D’s

1) . dermatitis: hyperpigmented dermatitis esp on sun exposed areas
2) . diarrhea
3) . dementia

Question 24

who is at risk for B1 deficiency?

Answer 24

thiamine deficiency

RFs: alcoholics (MC), weight loss surgery, dialysis

Question 25

2 forms of CP for B1 deficiency. what are two special conditions that can present with this deficiency?

Answer 25

1) . WET beriberi: DILATED vessels, high volume cause high output heart failure and dilated cardiomyopathy
2) . Dry beriberi: shrunken vessels/dry cause CNS changes (neuropathy, paresthesias, muscle cramps, impaired coordination)
* wernicke encephalopathy: ataxia, global confusion, and ophthalmopegia
* korsakoff dementia: confabulation and irreversible memory loss

Question 26

how to treat vit B1 deficiency?

Answer 26

IV thiamine and then oral thiamine

Question 27

Vitamin B12 deficiency: who gets this?

3 common causes of decreased absorption and one cause of decreased intake

Answer 27

absorption probs = pernicious anemia, crohn’s dz, and alcoholics
decreased intake = vegans

Question 28

common CP for B12 deficiency

Answer 28

MACROCYTIC anemia

neuro sxs: symmetric paresthesias, dec DTRs, ataxia/vibratory/position sense problems, psychosis

Question 29

how to dx and tx B12 deficiency

Answer 29

Dx: check B12 level + methylmalonic acid and homocysteine levels (last two elevated)
Tx: oral or IM B12 (pernicious anemia pts need lifelong therapy)

Question 30

definition of obesity? screening guidelines

Answer 30

BMI 30 or greater OR body weight 20% or greater over ideal body weight
screen anybody 6 years or older

Question 31

how to tx obesity

Answer 31

1) . Behavior modification: exercise, diet changes
2) . Medical therapy: antidepressants, anti-obesity Orlistat (dec GI fat absorption) and Lorcaserin (serotonin agonist)
3) . surgical options

Question 32

what is lactose intolerance?

Answer 32

inability to digest lactose because of deficiency in lactase enzyme, which leads to colon bacteria fermenting that undigested lactose = gas, bloating, abdominal distention, loose stools sxs

Question 33

how to dx and tx lactose intolerance

Answer 33

Dx: clinical diagnosis (sxs improvement with trial of lactose free diet)

• hydrogen breath test (TOC) = colonic bacteria fermenting the lactose produced hydrogen, usually performed if dx is uncertain after lactose free trial
  tx: Lactose free diet, lactaid pills

Question 34

what is the PP behind nut allergies? three RF for this allergy?

Answer 34

PP: most are IgE mediated (but can be something else)
RF: GENETICS (siblings or family history with peanut allergy have increased risk), history of atopy, delayed introduction to nuts (>3 yo)

Question 35

CP of nut allergy, how to tx acute attack and general management

Answer 35

CP: flushed, diaphoresis, urticaria, angioedema, nasal congestion/rhinorrhea, wheezing/cough/dyspnea, arrthymias, pruritis, N/V/abd pain, dizziness/syncope
TX acute attack: EPI, +/- antihistamines and H2 blockers
general tx: patient education on avoidance, epi pen

Question 36

what two things are you more likely to be allergy to if you have a latex allergy?

Answer 36

avocados and bananas (also kiwi and chestnuts)