Metabolic disorders Flashcards by Maya Birchler

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

paget disease

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RF for paget disease

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

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

Associated with osteosarcoma

paget’s disease

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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

paget’s disease

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

paget’s disease

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How do you treat paget’s disease?

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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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

hemochromatosis

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

RF for hemochromatosis

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

High incidence of hepatocellular carcinoma + intrahepatic cholangiocarcinoma

hemochromatosis

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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)

hemochromatosis

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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

hemochromatosis

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How do you treat hemochromatosis?

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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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

wilson’s disease

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What are RFs for Wilson disease

3-55
Adolescent females
Young adult males

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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

Wilson disease

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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

Wilson disease

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

wilson disease

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How do you treat wilson disease

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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normal BMI

18.5-24.9

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overweight BMI

25-29.9

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class 1 obesity

30-34.9

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class 2 obesity

35-39.9

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Class 3 obesity:

40+

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What are RFs for obesity

Americans
Type 2 diabetes
HTN
HLD
Heart disease
Stroke
OSA

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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

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

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

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

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

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

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

(thiamine) - MCC: alcohol use disorder, malabsorption, dialysis, other causes of chronic protein-calorie undernutrition Active = pyrophosphate Absorbed in small intestine

B1 deficiency

thiamine

riboflavin

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

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

Cheilosis, angular stomatitis, glossitis – magenta-colored tongue Seborrheic dermatitis Weakness Anemia → oral, ocular, genital syndrome

vitamin B2 deficiency

(riboflavin) - usually in combo with other deficiencies from dietary inadequacy, interactions with meds, alcohol use No known toxicity

vitamin B2 deficiency

Erythrocyte glutathione reductase measurement – activity coefficients >1.2-1.4 are suggestive Excretion to determine recent intake

vitamin b2 deficiency

how do you treat b2 deficiency

Treat empirically Foods: meat, fish, dairy products Oral preparations IV preparations

Early = anorexia, weakness, irritability, mouth soreness, glossitis, stomatitis, weight loss Advanced = triad of pellagra with dermatitis (dark, dry, scaly), dementia, diarrhea

b3 deficiency

(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

niacin

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

Fat soluble vitamins

adek

how do you treat vitamin b3

Oral niacin as nicotinamide

Similar to other vitamin B deficiencies: mouth soreness, glossitis, cheilosis, weakness, irritability Severe = peripheral neuropathy, anemia, seizures

vitamin b6 deficiency

pyridoxine

(pyridoxine) alcoholism, medication interactions (isoniazid, oral contraceptives)

b6 deficiency

Blood: pyridoxal phosphate (normal = >5) Toxicity with large doses (200-2000/day) causing irreversible sensory neuropathy

b6 deficiency

supplementation

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

ascorbic acid

vitamin c deficiency

What are RF for vitamin C?

Chronic illness - cancer, CKD, smoking

(ascorbic acid) from dietary inadequacy and alcohol use disorder 3HS: Hyperkeratosis Hemorrhage (impaired wound healing, vascular fragility, gums) Hematologic

vitamin c deficiency

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

how do you treat vitamin c deficiency

ascorbic acid

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

MCC of blindness US = fat malabsorption syndromes or mineral laxative abuse

vitamin a deficiency

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

how do you treat vitamin a deficiency

Vitamin A daily for 1 week

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

Hepatomegaly Confirmed by elevations of serum vitamin A levels

vitamin A toxicity

how do you treat vitamin A toxicity

Withdrawal of vitamin A from diet

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

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

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

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

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

Areflexia, disturbances of gait, decreased vibration and proprioception, ophthalmoplegia

vitamin e deficiency

Adults = severe malabsorption or abetalipoproteinemia Children = chronic cholestatic liver disease, biliary atresia, CF

vitamin e deficiency

Plasma E levels .5-.7 or higher Toxicity >400/day → require Vitamin K to minimize antiplatelet action

vitamin e deficiency

how do you treat vitamin e deficiency

large doses PO

Epistaxis, menorrhagia, hematuria

vitamin K deficiency

Deficient intake of vitamin K (leafy green vegetables, soybean), malabsorption, decreased production by intestinal bacteria from chemo or abx

vitamin K deficiency

Prolonged PT and aPTT, clotting factors low

vitamin K deficiency

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)

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

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

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

White men 40-60 in North America/Europe Wastewater contact Caused by infection with bacillus Tropheryma whipplei

whipple disease

PE: hyperpigmentation of exposed skin PCR, biopsy of duodenum

whipple disease

how do you treat whipple disease

Antibiotics for a year – ceftriaxone IV for 14 days Bactrim PO x 12 months

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

Breath testing of hydrogen and methane is used for

small intestinal bacterial overgrowth

how do you treat SIBO

Cipro, augmentin, bactrim x 7-10 days

Weight loss, diarrhea, electrolyte/water/nutritional deficiencies –Duodenum absorbs folate, iron, calcium –Terminal ileum absorbs b12

short bowel/short gut syndrome

Removal of >50% of small bowel Prior bowel resection

short gut/bowel syndrome

how do you treat short gut/bowel syndrome

Supplemental IV B12, modified diet, loperamide Teduglutide Parenteral nutrition → mortality

Diarrhea, bloating, flatulence, abdominal pain after ingestion of dairy products

lactase deficiency

Asian americans Blacks Native americans Secondary to Crohn’s, celiac, viral gastroenteritis, giardiasis, short bowel syndrome, malnutrition

lactase deficiency

Stool specimens – check osmotic gap (increased, pH <6) Improve with lactose-free diet

lactase deficiency

how do you treat lactase deficiency

Lactose free diet (counsel on dietary calcium), lactase supplements

“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

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

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

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

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

Adults: shellfish, peanuts, tree nuts Children: milk and eggs, but often resolve

immediate hypersensitivity reaction

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

Lip swelling, sneezing, itchy eyes, upset stomach, hives, possible anaphylaxis

latex- fruit syndrome: Cross-reactivity with latex to avocado, chestnuts, bananas, kiwi, papaya

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

History + skin tests + serum-specific IgE tests → frequent false positives among eczema patients Oral food challenge with reproducible reaction is gold standard

allergic reaction

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

Metabolic disorders Flashcards

(104 cards)