Metabolic disorders Flashcards

(104 cards)

1
Q

Mild and asymptomatic (majority)

Bone pain aching, deep and worse at night initially

MCC: pelvis, vertebrae, femur, humerus, skull

Softening of bones → long bones proximally and advancing distally with bowed tibias, kyphosis, “chalk stick” fractures

Skull enlargement = headaches, increased hat size, damage to petrous temporal bone → cochlea → hearing loss, tinnitus, vertigo

A

paget disease

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2
Q

RF for paget disease

A

UK, Europe
>55
Genetic - autosomal dominant w/ incomplete penetrance

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3
Q

Precise cause unknown, maybe viral infection (measles) in bone cells

Associated with osteosarcoma

A

paget’s disease

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4
Q

PE: dilated scalp veins “scalp vein sign”, crepitus of the hip

LABS: elevated serum ALP, serum N-terminal propeptide of type 1 collagen, serum beta C-terminal propeptide of type 1 collagen
Elevated calcium (nonambulatory)
Serum 25-OH vitamin D

IMAGING:
initial lesions = osteolytic
Advanced = flame-shaped lytic lesions in long bones
– become sclerotic and have mixed lytic/sclerotic appearance with thickened and deformed bones

Technetium-99m pyrophosphate bone scan: find additional lesions
→ baseline should be obtained in all patients to document extent and locations

A

paget’s disease

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5
Q

XR = diagnostic with demonstration of characteristic changes at 1+ sites
“Cotton wool” appearance

A

paget’s disease

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6
Q

How do you treat paget’s disease?

A

Asymptomatic = clinical surveillance

Skull, long bones, or vertebrae involvement = bisphosphonates

Zoledronic acid IV

Calcium and vitamin D supplements
→ correct Vitamin D deficiency prior to treatment

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7
Q

High iron levels w/ no symptoms or:
Early: fatigue or arthralgia
Later: joint disease-symmetric arthropathy, hepatomegaly (cirrhosis), skin pigmentation (gray/brown), cardiac enlargement, DM (late-onset Type 1), erectile/gonadal dysfunction

Classic triad: cirrhosis, bronze skin, DM1

A

hemochromatosis

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8
Q

Autosomal recessive gene
>50 men
Worse w/ EtOH use, obesity, DM

A

RF for hemochromatosis

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9
Q

Iron overload and deposition disorder
Hemosiderosis = accumulation in tissue (liver, pancreas, heart, adrenals, testes, pituitary, kidneys)

High incidence of hepatocellular carcinoma + intrahepatic cholangiocarcinoma

A

hemochromatosis

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10
Q

Elevated plasma iron w/ transferrin sat > 45%, increased ferritin, iron

Low unsaturated iron binding capacity-UIBC
Mildly elevated AST and alk phosphatase

MRI/CT – show iron overload in liver

Liver biopsy

Ass w/ alpha fetoprotein (cancer)

A

hemochromatosis

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11
Q

Check for iron overload in patients w/:
-Chronic liver disease
-ED
-Chondrocalcinosis
-DM1, late onset

Consider genetic testing, liver biopsy, MRI if screening tests are high

A

hemochromatosis

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12
Q

How do you treat hemochromatosis?

A

Avoid intake - red meat, supplemental iron, etc
ETOH, Vitamin C, raw shellfish

Depletion of iron stores by phlebotomy - 2-3y of weekly phlebotomy
Done for symptomatic patients
OR men-serum ferritin OR high fasting iron saturation

Consider PPIs to lower maintenance phlebotomy need
Chelation w/ deferoxamine if pt has anemia w/ iron overload from Thalassemia and intolerant of phlebotomy

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13
Q

Adolescents = presents as liver disease
Young adults = presents as neuropsychiatric disease

Should be considered in any child or young adult with:
hepatitis, splenomegaly with hypersplenism, Coombs negative hemolytic anemia, portal HTN, neurologic or psychiatric abnormalities
anyone <40 with chronic hepatitis or acute liver failure

A

wilson’s disease

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14
Q

What are RFs for Wilson disease

A

3-55
Adolescent females
Young adult males

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15
Q

Autosomal recessive disorder - genetic defect on chromosome 13 (ATP7B)
MC: H1069Q variant

Excessive absorption of copper from small intestine + decreased excretion of copper by the liver → increased tissue deposition in liver, brain, cornea, kidney

A

Wilson disease

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16
Q

LABS: elevated liver enzymes, cirrhosis, portal HTN

Neuro signs = akinetic-rigid syndrome, pseudosclerosis with tremor, ataxia, dystonic syndrome, dysarthria, dysphagia, incoordination, spasticity, migraines, insomnia, seizure

Psych = behavioral/psychiatric changes, emotional lability, depression

Brown or gray-green Kayser-Fleischer ring

A

Wilson disease

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17
Q

DIAGNOSIS:
Increased urinary copper excretion (>40)
Low serum ceruloplasmin levels (<14)
Elevated hepatic copper concentration (>250)
Kayser-Fleischer rings
Liver biopsy
MRI of brain

A

wilson disease

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18
Q

How do you treat wilson disease

A

Restriction of dietary copper (shellfish, organ, nuts, mushrooms, chocolate)

Oral D-penicillamine - 1 hour before or 2 hours after food
Oral pyridoxine to refresh B6 stores
SE: GI intolerance, hypersensitivity, autoimmune reactions, nephrotoxicity, bone marrow toxicity

Trientine hydrochloride (less SE, but $) or trientine tetrahydrochloride

2nd line = oral zinc acetate or zinc gluconate for first line asymptomatic or pregnant patients, maintenance

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19
Q

normal BMI

A

18.5-24.9

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20
Q

overweight BMI

A

25-29.9

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21
Q

class 1 obesity

A

30-34.9

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22
Q

class 2 obesity

A

35-39.9

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23
Q

Class 3 obesity:

A

40+

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24
Q

What are RFs for obesity

A

Americans
Type 2 diabetes
HTN
HLD
Heart disease
Stroke
OSA

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25
Accumulation of visceral subcutaneous fat Central obesity is a greater health risk than lower body Can be from drugs, medications (steroids, contraceptives, anti-diabetics,anti-HTN, antidepressants, antipsychotics, antiepileptics, antihistamines), alcohol use Genetic: 40-90% Environmental Behavior
obesity
26
Serum albumin is the most important test to identify whether someone is protein malnourished History: age, changes, family history, occupation, eating/exercise behavior, WL experience, psychosocial factors (ED) Physical: BMI, distribution, overall status, secondary Screen all for weight-related comorbid conditions, including OSA BP, waist circumference, fasting glucose, CMP, lipid panel, HgbA1c
obesity
27
What are recommendations for exercise in obesity?
150 minutes of moderate intensity aerobic exercise/week (tennis, walking) 75 minutes of vigorous intensity aerobic exercise per week (jogging, swimming) Resistance training
28
non-pharm obesity treatment
diet, physical activity, behavior modifications → unprocessed foods, limiting high calorie foods, emphasizing mediterranean diet, low-glycemic index diet, meal replacement → meal planning, self-monitoring, food log, recognize eating cues → aerobic exercise, higher intensity
29
pharm treatment of obesity
in those with BMI 30+ or BMI 27+ with comorbidities (DM) with diet and exercise – phentermine (short term use, adrenergic agonist), orlistat (GI SE), phentermine/topiramate ER (longer term, not for pregnancy), naltrexone/bupropion SR (suicidality in <24 years), liraglutide, semaglutide (AGA endorses this over others but can increase risk of thyroid cancer), tirzepatide
30
Bariatric surgery in those with BMI
40+ or 35+ with complications (sleeve gastrectomy - irreversible, Roux-en-Y gastric bypass - reversible) – CI: poor cardiac reserve, COPD or respiratory dysfunction, severe psych disorders, nonadherence to medical treatment
31
Early = anorexia, muscle cramps, paresthesia, irritability Advanced = -Wet beriberi - CV: (peripheral vasodilation with high-output heart failure with dyspnea, tachycardia, cardiomegaly, pulmonary edema, peripheral edema with warm extremities) - Dry beriberi - peripheral nervous involvement (symmetric motor/sensory neuropathy with pain, paresthesia, areflexia) CNS - Wernicke-Korsakoff syndrome (Wernicke encephalopathy, Korsakoff dementia)
vitamin B1 deficiency
32
(thiamine) - MCC: alcohol use disorder, malabsorption, dialysis, other causes of chronic protein-calorie undernutrition Active = pyrophosphate Absorbed in small intestine
B1 deficiency
33
thiamine
B1
34
riboflavin
B2
35
Dx: clinical response to empiric thiamine therapy Biochemical test – normal 70-180 Erythrocyte transketolase activity (subclinical = low) Urinary thiamine excretion (recent intake) No known toxicity
B1 deficiency
36
how do you treat b1 deficiency
Large parenteral doses of thiamine (only effective if magnesium is repleted) – should receive simultaneous therapeutic doses of other water-soluble vitamins Dry beriberi → neuro Wet beriberi → cardio
37
Cheilosis, angular stomatitis, glossitis – magenta-colored tongue Seborrheic dermatitis Weakness Anemia → oral, ocular, genital syndrome
vitamin B2 deficiency
38
(riboflavin) - usually in combo with other deficiencies from dietary inadequacy, interactions with meds, alcohol use No known toxicity
vitamin B2 deficiency
39
Erythrocyte glutathione reductase measurement – activity coefficients >1.2-1.4 are suggestive Excretion to determine recent intake
vitamin b2 deficiency
40
how do you treat b2 deficiency
Treat empirically Foods: meat, fish, dairy products Oral preparations IV preparations
41
Early = anorexia, weakness, irritability, mouth soreness, glossitis, stomatitis, weight loss Advanced = triad of pellagra with dermatitis (dark, dry, scaly), dementia, diarrhea
b3 deficiency
42
(niacin) Alcohol use disorder, diet rich in corn, nutrient-drug interactions (isoniazid, fluorouracil, phenobarbital, pyrazinamide), Harnup disease Major food sources = cereals, vegetables, dairy, proteins containing tryptophan
b3 deficiency
43
niacin
b3
44
Serum or plasma (normal = .50-8.45) Toxicity can be caused by treating by hyperlipidemia – cutaneous flushing and gastric irritation - pre-treat with aspirin Elevation of liver enzymes, hyperglycemia, and gout
b3 deficiency
45
Fat soluble vitamins
adek
46
how do you treat vitamin b3
Oral niacin as nicotinamide
47
Similar to other vitamin B deficiencies: mouth soreness, glossitis, cheilosis, weakness, irritability Severe = peripheral neuropathy, anemia, seizures
vitamin b6 deficiency
48
pyridoxine
b6
49
(pyridoxine) alcoholism, medication interactions (isoniazid, oral contraceptives)
b6 deficiency
50
Blood: pyridoxal phosphate (normal = >5) Toxicity with large doses (200-2000/day) causing irreversible sensory neuropathy
b6 deficiency
51
b6 deficiency
supplementation
52
Early = malaise/weakness Advanced = scurvy symptoms (perifollicular hemorrhages, papules, petechiae, purpura, splinter hemorrhages), anemia, impaired wound healing Late = edema, oliguria, neuropathy, hemorrhage, death
vitamin c deficiency
53
ascorbic acid
vitamin c deficiency
54
What are RF for vitamin C?
Chronic illness - cancer, CKD, smoking
55
(ascorbic acid) from dietary inadequacy and alcohol use disorder 3HS: Hyperkeratosis Hemorrhage (impaired wound healing, vascular fragility, gums) Hematologic
vitamin c deficiency
56
Based on skin lesions Atruamatic hemarthrosis = highly suggestive Confirmed w/ plasma ascorbic acid levels <.2 Large doses can cause gastric irritation, flatulence, diarrhea, kidney stone
vitamin c deficiency
57
how do you treat vitamin c deficiency
ascorbic acid
58
Early = night blindness, corneal xerosis, bitot spots (white spots on conjunctiva) Late = keratomalacia, endophthalmitis, blindness, xerosis of skin, hyperkeratinization, loss of taste Dry eyes common in developing countries
vitamin a deficiency
59
MCC of blindness US = fat malabsorption syndromes or mineral laxative abuse
vitamin a deficiency
60
Dx: abnormalities of dark adaption are suggestive (clinically) Serum levels <30-65 Large doses leads to staining of skin a yellow-orange color mostly on palms and soles with sclera remaining white Excessive = toxic, with ingestion of daily doses over 50k/day for 3 months+
vitamin a deficiency
61
how do you treat vitamin a deficiency
Vitamin A daily for 1 week
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Dry, scaly skin with hair loss, mouth sores, painful hyperostosis, anorexia, vomiting More serious = hypercalcemia, increased intracranial pressure with papilledema, headaches, decreased cognition Acute = N/V abdominal pain, headache, papilledema, lethargy
vitamin A toxicity
63
Hepatomegaly Confirmed by elevations of serum vitamin A levels
vitamin A toxicity
64
how do you treat vitamin A toxicity
Withdrawal of vitamin A from diet
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MSK pain or weakness, can lead to osteomalacia (soft bones) and secondary hyperparathyroidism Diffuse pain and tenderness, proximal muscular weakness Hip pain, bowing → waddling
vitamin d deficiency
66
what are RF for vitamin D deficiency
Community-dwelling older adults, residential care, increased skin melanin pigmentation, modestly dressed, not regularly exposed to sunlight, pregnant women, obesity
67
Low levels in blood → abnormalities in Ca, P, bone metabolism Decreased synthesis in skin (dark, aging, lack of exposure), inadequate dietary intake, impaired GI absorption, nephrotic syndrome, anti seizure meds, rifampin, isoniazid, theophylline, steroids, impaired hepatic metabolism
vitamin d deficiency
68
25-hydroxyvitamin D <20 Test with those at risk - low calcium, phosphate, CKD, osteoporosis, primary HPTH, secondary HPTH, obesity, malabsorption syndrome Test for effects of deficiency as well: PTH, calcium, phosphorous, ALP Excessive serum vitamin D = hypercalciuria, hypercalcemia, hyperphosphatemia, possible risk of falls Imaging: Looser lines, transverse pseudo-fracture lines
vitamin d deficiency
69
how do you treat vitamin d deficiency
D3>D2 in serum levels – increased dose if patient is obese, has malabsorption syndrome, or is taking meds affecting metabolism Calcitriol orally or IV with chronic renal failure, nephrotic syndrome, or severe other syndromes, severe liver disease, impaired hepatic metabolism UV light Monitoring: 10-12 weeks after starting replacement therapy, consider monitoring for toxicities Prevent = dietary intake (fatty fish, cod liver oil, egg yolks, sun-exposed mushrooms, fortified foods), sun exposure
70
Areflexia, disturbances of gait, decreased vibration and proprioception, ophthalmoplegia
vitamin e deficiency
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Adults = severe malabsorption or abetalipoproteinemia Children = chronic cholestatic liver disease, biliary atresia, CF
vitamin e deficiency
72
Plasma E levels .5-.7 or higher Toxicity >400/day → require Vitamin K to minimize antiplatelet action
vitamin e deficiency
73
how do you treat vitamin e deficiency
large doses PO
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Epistaxis, menorrhagia, hematuria
vitamin K deficiency
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Deficient intake of vitamin K (leafy green vegetables, soybean), malabsorption, decreased production by intestinal bacteria from chemo or abx
vitamin K deficiency
76
Prolonged PT and aPTT, clotting factors low
vitamin K deficiency
77
how do you treat vitamin K deficiency
Vitamin K1 IV or PO Oral dose IV administration = faster normalized PT (low dose and slowly due to risk of anaphylaxis)
78
Measurable reduction of levels of phosphorus, potassium and/or magnesium, or manifestation of thiamine deficiency developing shortly (hours to days) after initiation of calorie provision to those exposed to undernourishment
refeeding syndrome
79
how do you treat refeeding syndrome
Start feeds at low rate (~50%), with empiric thiamine and electrolyte administration Risk is greatest in first 72 hours – 2x/day electrolyte checks and generous electrolyte replenishment if low levels are identified
80
Fever, lymphadenopathy, migratory arthralgias, diarrhea, abdominal pain, weight loss due to protein losing enteropathy, edema Cardiac or CNS involvement 4 cardinal manifestations: arthralgias, abdominal pain/diarrhea, malabsorption, CNS involvement (movement of eyes while eating)
whipple disease
81
White men 40-60 in North America/Europe Wastewater contact Caused by infection with bacillus Tropheryma whipplei
whipple disease
82
PE: hyperpigmentation of exposed skin PCR, biopsy of duodenum
whipple disease
83
how do you treat whipple disease
Antibiotics for a year – ceftriaxone IV for 14 days Bactrim PO x 12 months
84
None or unexplained diarrhea and WL, bloating flatulence IBS Overgrowth of bacteria in normally sterile segments of small bowel; malabsorption of fat with steatorrhea from abnormal anatomy, dysmotility (diabetes), Crohn’s disease, PPI use
small intestinal bacterial overgrowth
85
Breath testing of hydrogen and methane is used for
small intestinal bacterial overgrowth
86
how do you treat SIBO
Cipro, augmentin, bactrim x 7-10 days
87
Weight loss, diarrhea, electrolyte/water/nutritional deficiencies –Duodenum absorbs folate, iron, calcium –Terminal ileum absorbs b12
short bowel/short gut syndrome
88
Removal of >50% of small bowel Prior bowel resection
short gut/bowel syndrome
89
how do you treat short gut/bowel syndrome
Supplemental IV B12, modified diet, loperamide Teduglutide Parenteral nutrition → mortality
90
Diarrhea, bloating, flatulence, abdominal pain after ingestion of dairy products
lactase deficiency
91
Asian americans Blacks Native americans Secondary to Crohn’s, celiac, viral gastroenteritis, giardiasis, short bowel syndrome, malnutrition
lactase deficiency
92
Stool specimens – check osmotic gap (increased, pH <6) Improve with lactose-free diet
lactase deficiency
93
how do you treat lactase deficiency
Lactose free diet (counsel on dietary calcium), lactase supplements
94
“Classic” symptoms in infants: diarrhea, steatorrhea, weight loss, abdominal distention, weakness, muscle wasting, growth retardation “Silent” Other: chronic diarrhea, constipation, dyspepsia, fatigue, depression, IDA, osteoporosis, amenorrhea, infertility, dermatitis herpetiformis, rash
celiac disease
95
Autoimmune illness = Hashimoto's, DMT1 (should be screened annually for celiac disease), celiac Link to EBV and other viral illnesses – immunologic response to gluten True celiac = wheat, barley, rye
celiac disease
96
PE: distended abdomen, hyperactive bowels Skin – dermatitis herpetiformis Pallor due to anemia, easy bruising (vitamin K def), hyperkeratosis (vitamin A def), bone pain, neurological signs due to vitamin B12 or vitamin E deficiency LABS: CBC, PT, albumin, iron, ferritin, calcium, ALP, folate, B12, A, D IgA tissue transglutaminase-2 antibody (IgA anti-tTG2) if patient NOT already on strict gluten-free diet Biopsy of EGD of duodenum needed for confirmation of serologic testing is + or suspected false negative with present abnormalities
celiac disease
97
how do you treat celiac disease
Gluten free diet with no cross-contamination – avoid dairy/take lactase until intestinal symptoms have improved Rechallenge w/ gluten may trigger severe diarrhea with dehydration and electrolyte imbalance and may require TPN and IV/oral steroids Annual monitoring: CBC, CMP, gastric bypass lab panel DEXA → high risk of osteoporosis or osteopenia → high association of other AI illness, autoimmune hepatitis → Can develop to intestinal T-cell lymphoma
98
Within 2 hours of ingestion – more common in children Combo of emesis, diarrhea, urticaria, w/ or w/o angioedema, bronchial hypersensitivity, HOTN
immediate hypersensitivity reaction
99
Adults: shellfish, peanuts, tree nuts Children: milk and eggs, but often resolve
immediate hypersensitivity reaction
100
Known seasonal allergies and itching of oral mucosa upon ingestion of cross-reactive raw fruits and vegetables
Oral allergy syndrome: pollen-associated food allergy from cross-reactivity
101
Lip swelling, sneezing, itchy eyes, upset stomach, hives, possible anaphylaxis
latex- fruit syndrome: Cross-reactivity with latex to avocado, chestnuts, bananas, kiwi, papaya
102
2-12 hours after ingestion (3-6 hours generally), heavily influenced by cofactors (alcohol, exercise)
Alpha-gal syndrome: Galactose-alpha-1, 3-galactose in mammal derived meats (beef, pork, lamb, whale, mutton, squirrel) – Lone Star tick bites
103
History + skin tests + serum-specific IgE tests → frequent false positives among eczema patients Oral food challenge with reproducible reaction is gold standard
allergic reaction
104
how to treat an allergic reaction
Avoidance of food including cross-contamination with guaranteed access to epinephrine injector at all times Refer to immunologist for immunotherapy