PANCE Blueprint GI and Nutrition (9%)

Hypervitaminosis/hypovitaminosis (ReelDx + Lecture)

VIDEO-CASE-PRESENTATION-REEL-DX

Marasmus Patient will present with → 4-year-old with severe malnutrition and developmental delay

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According to the US Centers for Disease Control and Prevention, although less than 10% of the US population have nutritional deficiencies, those deficiencies vary by age, gender, and race, and the incidence may be 30% or higher among certain groups. One-half of all children worldwide (aged 6 months to 5 years) have one or more micronutrient deficiencies, with more than 2 billion people affected globally.

Here are some common nutritional deficiencies you are likely to see come exam day:

  • Kwashiorkor is inadequate intake of protein and may lead to edema.
  • Marasmus is inadequate intake of ALL energy forms (including protein).
  • Fat Soluble Vitamins (ADEK):
    • Vitamin A: Elderly, alcoholics, liver disease - night blindness, dry skin.
    • Vitamin D: Elderly, low sunlight - rickets, osteomalacia.
    • Vitamin E: neuropathy, ataxia
    • Vitamin K: bleeding (makes clotting factors causes an increase in PT/INR).
  • Vitamin C: Alcoholics, elderly men - scurvy (poor wound healing, petechiae, bleeding gums).
  • Thiamine (B1): Alcoholics, poverty - Beriberi (tingling, poor coordination, edema, cardiac dysfunction).Wernicke’s encephalopathy (ataxia, confusion). Korsakoff syndrome (confabulation, retrograde and anterograde amnesia).
  • Niacin (B3): Poverty, alcoholics - Pellagra (diarrhea, dermatitis, dementia).
  • Pantothenic Acid (B5): Alcoholics - Numbness, tingling, headache, fatigue, insomnia.
  • Pyridoxine (B6): Adolescents, alcoholics - Dermatitis, atrophic glossitis, sideroblastic anemia.
  • Folate: Pregnancy, alcoholics - Neural tube defects, megaloblastic anemia, glossitis, confusion.
  • Cobalamin (B12): Elderly, vegans, atrophic gastritis - Megaloblastic anemia, subacute combined degeneration of spinal cord, seizures, dementia.

Rickets

Nutritional Deficiencies

vitamin-and-nutritional-deficieencies

Order appropriate laboratory studies based on suspected deficiency

Vitamin replacement/supplementation

  • Address (and fix) underlying cause

 zinc-deficiency_5843_1489704951 Zinc deficiency is marked by a variety of symptoms due to the fact that zinc is an essential metallic element used in over 100 enzymatic reactions. Zinc is commonly used as a stabilizer in a small protein structural motif called a zinc finger that is commonly used for binding DNA and RNA as transcription factors. Zinc deficiency can present in a multitude of ways including changes in smell, taste, hair growth, wound healing as well as hypogonadism and a perioral rash. A common population with this deficiency is severe alcoholics due to poor nutritional intake and poor absorption.

Zinc Deficiency Picmonic

_DM_Wernicke_Korsakoff_v1.4_ Wernicke-Korsakoff syndrome is a common acute neuropsychological disorder caused by thiamine deficiency. It is commonly seen in alcoholics due to nutrient depletion. Wernicke encephalopathy is manifested by a clinical triad of encephalopathy with confusion, ophthalmoplegia, and gait ataxia. Korsakoff syndrome is characterized by marked deficits in anterograde and retrograde memory, personality changes, and confabulation. Memory impairment correlates with damage to the medial dorsal nucleus of the thalamus and the mamillary bodies. Patients with Korsakoff syndrome rarely recover. When treating alcoholics, thiamine is commonly given with glucose therapy to prevent development of Wernicke-Korsakoff syndrome.

Wernicke Korsakoff Picmonic

 vitamin-k_5903_1491512408 Vitamin K is a fat soluble vitamin, which is synthesized to an active form by the gut flora and the actions of the enzyme epoxide reductase. The active form plays a role in the carboxylation of glutamate, which is an essential reaction in the synthesis of blood clotting factors II, VII, IX, X, protein C and protein S. Without the synthesis of these proteins, the patient has severely impaired blood clotting. This can be seen in patients with a vitamin K deficiency or who are on warfarin therapy, which is a vitamin K antagonist. Common causes of vitamin K deficiency include malabsorption, as well as gut flora depletion, which is seen in neonates and in patients with prolonged antibiotic use. Those who are vitamin K deficient will display a normal bleeding time with increased PT and PTT.

Vitamin K Deficiency Picmonic

vitamin-e-deficiency_5979_1493326832 Vitamin E is a fat-soluble vitamin that functions biologically as an antioxidant. Important biologic functions of this vitamin, which include the compounds tocopherols and tocotrienols, include disabling free radicals in the body, inhibiting platelet aggregation, promoting cell repair and smooth muscle growth. Deficiencies in vitamin E can be caused by fat malabsorptive disorders, which include cystic fibrosis, Whipple’s disease, and celiac disease, among others. Deficiency of this vitamin leads to hemolytic anemia, spinocerebellar ataxia, peripheral neuropathy, ataxia, myopathies and impaired immune response. Those deficient of vitamin E are also prone to development of hyperkeratosis and acanthosis nigricans.

Vitamin E Deficiency Picmonic

 IM_MED_VitaminDDeficiency_V2.2_ASSETS_ Vitamin D is a fat soluble vitamin whose major function is the maintenance of adequate levels of calcium and phosphorous in the body. There are several causes for vitamin D deficiency including renal failure, inadequate exposure to sunlight, fat malabsorption, and chronic liver disease. Children that are strictly breast fed are also at high risk for vitamin D deficiency because there are decreased levels in breast milk. There are several manifestations of vitamin D deficiency including rickets in children whose epiphyses have not closed, osteomalacia in adults, and hypocalcemic tetany.

Vitamin D Deficiency Picmonic

 vitamin-c-mechanism-and-deficiency_5909_1489700326 Vitamin C, also called ascorbic acid, is a water-soluble vitamin which is mostly essential for collagen synthesis and its antioxidant properties. The vitamin catalyzes several enzymes in the synthesis of collagen as well as catecholamine synthesis. When the vitamin is deficient, the most notable effect is the onset of Scurvy, a disease characterized by poor wound healing and perifollicular hemorrhage. Additionally, patients deficient in the vitamin can have anemia due to poor antioxidant ability as well as iron absorption problems.

Vitamin C Deficiency Picmonic

 _DM_Vitamin-B6-Deficiency_v1.6_ Vitamin B6 is a water soluble vitamin that is activated to form pyridoxal phosphate, a cofactor in many reactions in body. This cofactor is used in multiple reactions of amino acid metabolism, including transamination and decarboxylation. Pyridoxal phosphate is also necessary for glycogen phosphorylase, cystathionine synthesis, heme synthesis, and the conversion of tryptophan to niacin. Vitamin B6 deficiency can cause low activity of these enzymes and lead to symptoms of hyperirritability, seizures, peripheral neuropathy, and sideroblastic anemia.

Vitamin B6 Deficiency Picmonic

 vitamin-b5-pantothenate_5902_1490919001 Vitamin B5 is a water-soluble vitamin, also called pantothenic acid. This vitamin is essential for the synthesis of coenzyme A. Its utilization as a cofactor is essential for pyruvate dehydrogenase and fatty acid synthase, which are needed for glucose metabolism and fatty acid synthesis, respectively. A deficiency can present with non-specific signs of alopecia, dermatitis and enteritis. Additionally, the vitamin deficiency can result in adrenal insufficiency due to its role in fatty acid and hormone synthesis.

Vitamin B5 Deficiency Picmonic

 IM_MED_Vitamin_B3_v1.1_ Niacin, vitamin B3, is an essential vitamin used in energy reactions as a component of NAD. Niacin is created from the amino acid tryptophan and requires vitamin B6 in order to convert the amino acid to niacin. There is a characteristic set of symptoms referred to as pellagra which results from niacin deficiency. The symptoms of pellagra are easily remembered as the 4 D's which include diarrhea, dermatitis, dementia and death. Niacin deficiency often results from depletion of tryptophan as is seen in Hartnup disease and serotonin syndrome. Additionally, niacin can be used as a cholesterol lowering medication. As a medication, its most significant side effect is a facial flush.

Niacin (Vitamin B3) Deficiency Picmonic

vitamin-b12-28cobalamin-29-mechanism-and-deficiency_5910_1489695615 (1) Vitamin B12, also called cobalamin, is a water-soluble vitamin with an essential role in the normal functioning of the nervous system and proper formation of blood cells. Vitamin B12 is found in foods that come from animals and is stored largely in the liver. It is involved in cellular functions in every cell of the body including roles in DNA synthesis, fatty acid synthesis and energy production. Vitamin B12 dependent enzymes including methylmalonyl Coenzyme A mutase, which converts methylmalonyl CoA to succinyl CoA and methionine synthase, which converts homocysteine to methionine. A vitamin B12 deficiency will hinder these reactions. Inability to convert homocysteine to methionine causes poor DNA synthesis and can cause macrocytic megaloblastic anemia with hypersegmented neutrophils. This can also be seen in a folate deficiency, which is also necessary to complete this reaction. However, a vitamin B12 deficiency will uniquely cause defects to the nervous system because elevated levels of methylmalonic acid can cause abnormal fatty acids to be incorporated into myelin, resulting in demyelination. This often causes damages to specific neuron tracts including the posterior columns, lateral corticospinal tract, and spinocerebellar tracts.

Vitamin B12 (Cobalamin) Deficiency Picmonic

vitamin-a-retinol-function-and-deficiency_5914_1490135586 Vitamin A, also called retinol, is an important vitamin that plays a role in a variety of functions throughout the body including, vision and skin health. This vitamin is needed by the retina of the eye for low-light and color vision. Therefore, night blindness is one of the first symptoms of vitamin A deficiency. Vitamin A in the form of retinoic acid is also important in the maintenance of normal skin healthy by activating genes and differentiating immature keratinocyte skin cells into mature epidermal cells. Therefore, skin changes like dry skin is often a sign of vitamin A deficiency. This vitamin also plays roles in gene transcription, immune function, embryonic development and has antioxidant activity.

Vitamin A (Retinol) Function and Deficiency Picmonic

_IM_Thiamine_v1.1_ Thiamine, also called vitamin B1, is a water-soluble vitamin that is involved in many cellular processes. In biochemistry, thiamine is most commonly seen in the phosphate derivative form thiamine pyrophosphate (TPP). This coenzyme is necessary in the proper functioning of essential enzymes in the catabolism of sugars and amino acids including branched chain amino acid dehydrogenase, pyruvate dehydrogenase, alpha ketoglutarate dehydrogenase, and transketolase. Because these enzymes are used to make ATP for cellular energy, thiamine depletion can cause severe ATP depletion. Symptoms of thiamine deficiency have a broad range including Wernicke-Korsakoff syndrome and beriberi. In general, aerobic tissues that require high levels of ATP for proper functioning like the brain and heart are affected first. Because thiamine is necessary for glucose metabolism, infusion of glucose can precipitate or worsen thiamine deficiency. Therefore, thiamine is always given with IV glucose in patients susceptible to a thiamine deficiency.

Thiamine (Vitamin B1) Deficiency Picmonic

_IM_Riboflavin_v1.5_ Riboflavin, also known as vitamin B2, is a water soluble vitamin that is the central component of cofactors FAD and FMN. FAD (flavin adenine dinucleotide) is a cofactor involved in several redox reactions and can be reduced to FADH2 when it accepts two hydrogen atoms. This reaction is especially important in the citric acid cycle as FAD is a prosthetic group in the enzyme complex succinate dehydrogenase. FAD is reduced to FADH2 as succinate is oxidized to fumarate and the high-energy electrons are sent through the electron transport chain to produce 2 ATP. It is important to note that FADH2 can only produce 2 ATP as compared to NADH2, which can make 3 ATP through the electron transport chain. In humans, signs and symptoms of a riboflavin deficiency include cracked lips, inflammation of the lining of the mouth, and cracks at the corners of the mouth. The eyes may also become bloodshot, itchy, watery and sensitive to bright light.

Riboflavin (Vitamin B2) Deficiency Picmonic

IM_NUR_IronFerrousSulfate_v1.1_ Iron (Ferrous Sulfate) is an inexpensive drug of choice for treating and preventing iron deficiency anemia. The administration of iron promotes hemoglobin production necessary for carrying oxygen throughout the body. Ferrous sulfate is indicated for treating iron deficiency anemia. Side effects include constipation, diarrhea, nausea, vomiting, and dark green or black colored stools. Instruct the patient to take this medication with food and avoid concurrent antacid use. Teach the patient about measures to prevent liquid preparations from staining teeth and to keep this medication out of reach of children. This medication may worsen GI symptoms and should be used with caution in patients with peptic ulcers, ulcerative colitis, and regional enteritis.

Iron (Ferrous Sulfate) Deficiency Picmonic

IM_PHM_FolateDeficiency_v1.4_ Folate deficiency occurs due to malabsorption, insufficient dietary intake, impaired metabolism and increased requirements for folate. It results in a macrocytic, megaloblastic anemia similar to Vitamin B12 deficiency; however, unlike Vitamin B12 deficiency it does not result in neurologic symptoms.

Folate Deficiency Picmonic

IM_Ergocalcifero_ASSETS_ Vitamin D2 can be obtained through diet, or synthesized in the body with exposure to sunlight. This vitamin acts like a hormone in the body, regulating calcium and phosphorous levels in the blood. Because it is controlled by a negative feedback loop, levels of vitamin D will increase when calcium is low and decrease when the calcium level returns to normal limits. Signs and symptoms of vitamin D toxicity, also known as hypervitaminosis D, are closely associated with hypercalcemia, which occurs more often in children. These include fatigue, muscle weakness, constipation, and kidney stones. Vitamin D supplementation is indicated in the treatment of hyperparathyroidism, rickets, and hypophosphatemia.

Ergocalciferol (Vitamin D2) Deficiency Picmonic

IM_NUR_Cholecalciferol_v1.3_ Cholecalciferol (vitamin D3) is a key nutrient for bone health and made in the skin through sunlight exposure. Other sources of vitamin D3 include fortified milk and dietary supplements. Vitamin D3 supplementation is indicated as a prophylaxis and treatment for vitamin D deficiency. Symptoms of vitamin D deficiency include fatigue, constipation, hypercalcemia, and kidney stones. Compared with ergocalciferol (vitamin D2), vitamin D3 is more effective at raising serum levels of vitamin D (refer to the Picmonic on "Ergocalciferol (Vitamin D2)"). Excessive intake of vitamin D is toxic and may lead to hypervitaminosis D. Accidental vitamin D poisoning in children and adults requires medical attention.

Cholecalciferol (Vitamin D3) Deficiency Picmonic

biotin-28vitamin-b7-29_5908_1490201118 Biotin (vitamin B7) deficiency typically presents with alopecia, dermatitis and non-specific enteritis. Biotin is an essential cofactor in carboxylation reactions which are synthetic reactions used in fatty acid and amino acid synthesis. Classic causes of biotin deficiency are long-term antibiotic use as well as ingestion of raw eggs. Raw eggs contain a compound called avidin which binds the biotin and inactivates it.

Biotin (Vitamin B7) Deficiency Picmonic

_DM_Beri_Beri_Thiamine_Deficiency_v1.5 Beriberi develops due to thiamine (B1) deficiency. Beriberi is described as dry or wet. Dry beriberi is characterized by symmetric polyneuritis affecting both sensory and motor components of the distal extremities leading to symmetrical extremity muscle wasting. Wet beriberi has additional cardiac involvement including cardiomegaly, dilated cardiomyopathy, congestive heart failure, and peripheral edema.

Beriberi Thiamine Deficiency Picmonic

Question 1
Kwashiorkor in infants is caused by
A
Protein deficiency only
B
Energy deficiency only
Hint:
See A for explanation
C
Combined protein and energy deficiency
Hint:
Causes Marasmus.
D
None of the above
Question 1 Explanation: 
Kwashiorkor is caused by a deficiency of protein in the presence of adequate energy.
Question 2
Which of the following is associated with chronic alcoholism?
A
Thiamine deficiency
B
Niacin deficiency
Hint:
See A for explanation
C
Vitamin A deficiency
Hint:
See A for explanation
D
Cobalamin deficiency
Hint:
See A for explanation
Question 2 Explanation: 
Patients with chronic alcoholism may have poor dietary intake of thiamine and impaired absorption, metabolism and storage. Most thiamine deficiency in the United States is due to alcoholism.
Question 3
Wernicke encephalopathy consists of all of the following except
A
Nystagmus
Hint:
See B for explanation
B
Amnesia
C
Truncal ataxia
Hint:
See B for explanation
D
Confusion
Hint:
See B for explanation
Question 3 Explanation: 
Amnesia is not a component of Wernicke encephalopathy. Wernicke encephalopathy consists of nystagmus, truncal ataxia, and confusion
Question 4
The classic triad of pellagra includes all of the following except
A
Dermatitis
Hint:
See D for explanation
B
Diarrhea
Hint:
See D for explanation
C
Dementia
Hint:
See D for explanation
D
Diabetes
Question 4 Explanation: 
Pellagra is a deficiency disease caused by a lack of nicotinic acid or its precursor tryptophan in the diet. It is characterized by dermatitis, diarrhea, and mental disturbance (dementia), and is often linked to over dependence on corn as a staple food.
Question 5
In a patient with fat malabsorption (ex. diseases of the gallbladder, liver, or pancreas), which of the following vitamins will not be affected?
A
Vitamin B
B
Vitamin K
Hint:
Fat soluble vitamins are vitamins A, D, E, and K. Their absorption is affected in fat malabsorption.
C
Vitamin D
Hint:
Fat soluble vitamins are vitamins A, D, E, and K. Their absorption is affected in fat malabsorption.
D
Vitamin A
Hint:
Fat soluble vitamins are vitamins A, D, E, and K. Their absorption is affected in fat malabsorption.
E
Vitamin E
Hint:
Fat soluble vitamins are vitamins A, D, E, and K. Their absorption is affected in fat malabsorption.
Question 5 Explanation: 
Vitamin B is not a fat soluble vitamin, so its absorption will not be affected. Fat soluble vitamins are vitamins A, D, E, and K. Their absorption is affected in fat malabsorption.
Question 6
Which of the following is typically considered the first sign of iodine deficiency?
A
Dry skin
B
Diffuse thyroid enlargement
C
Periorbital edema
D
Delayed relaxation phase of the deep tendon reflexes
Question 6 Explanation: 
goiterPatients with iodine deficiency tend to come from regions where iodine deficiency disorders are endemic. The first sign of iodine deficiency is diffuse thyroid enlargement, which becomes multinodular over time. In patients with hypothyroidism due to severe iodine deficiency, one might see such signs as dry skin, periorbital edema, and delayed relaxation phase of the deep tendon reflexes.
Question 7
Which of the following organ systems is more commonly affected by magnesium deficiency?
A
Hematologic
Hint:
See B for explanation
B
Cardiovascular
C
Genitourinary
Hint:
See B for explanation
D
Gastrointestinal
Hint:
See B for explanation
Question 7 Explanation: 
Magnesium is critically important in maintaining normal cell function, and symptomatic magnesium depletion is often associated with multiple biochemical abnormalities, including hypokalemia, hypocalcemia, and metabolic acidosis. As a result, hypomagnesemia is sometimes difficult to attribute solely to specific clinical manifestations. The organ systems commonly affected by magnesium deficiency are the cardiovascular system and the central and peripheral nervous systems. The skeletal, hematologic, gastrointestinal, and genitourinary systems are affected less often. Cardiovascular manifestations may include the following electrocardiographic abnormalities and arrhythmias:
  • Nonspecific T-wave changes: U waves
  • Prolonged QT and QU interval
  • Repolarization alternans
  • Premature ventricular contractions: monomorphic ventricular tachycardia
  • Torsade de pointes
  • Ventricular fibrillation
  • Enhanced digitalis toxicity
Question 8
Which of the following is accurate regarding vitamin A deficiency?  
A
Pregnant women should receive routine vitamin A supplementation
B
A serum retinol-binding protein (RBP) study is the criterion standard for diagnosis of vitamin A deficiency
C
Individuals with vitamin A deficiency may have a recent history of increased infections and/or infertility
D
Reduction in mortality and morbidity is seen in children aged 1-6 months who receive vitamin A supplementation
Question 8 Explanation: 
Subclinical forms of vitamin A deficiency may not cause any symptoms, but the risk of developing respiratory and diarrheal infections is increased, the growth rate is decreased, and bone development is slowed. Patients may have a recent history of increased infections, infertility secondary to impaired spermatogenesis, or recent spontaneous abortion secondary to impaired embryonic development. The patient may also report increased fatigue, as a manifestation of vitamin A deficiency anemia. Pregnant women do not require increased vitamin A supplementation. In fact, the Teratology Society advocates that women be informed of the possible risk for cranial neural crest defects and other malformations resulting from excessive use of vitamin A shortly before or during pregnancy. A serum RBP study is easier to perform and less expensive than a serum retinol study, because RBP is a protein and can be detected by an immunologic assay. RBP is also a more stable compound than retinol with respect to light and temperature. However, RBP levels are less accurate, because they are affected by serum protein concentrations and because types of RBP cannot be differentiated. A Cochrane Review article included 43 randomized trials representing 215,633 children, and provided strong support for the importance of vitamin A supplementation in preventing childhood mortality in children from 6 months to 5 years of age. No evidence suggests that vitamin A supplementation reduces mortality and morbidity among children aged 1-6 months.
Question 9
Which of the following is accurate regarding the workup of calcium deficiency?
A
Most cases of hypocalcemia are detected owing to clinical findings during physical examination
Hint:
Most cases of hypocalcemia are discovered by clinical suspicion and appropriate laboratory testing.
B
Parathyroid hormone (PTH) should be measured after other routine laboratory measurements and after imaging studies have been conducted
Hint:
The PTH level should be checked as early as possible. Low to normal PTH levels occur in patients with hereditary or acquired hypoparathyroidism and in patients with severe hypomagnesemia.
C
Blood urea nitrogen (BUN) and serum creatinine levels are typically decreased in patients with calcium deficiency
Hint:
BUN and serum creatinine levels should be measured, because elevated levels may indicate renal dysfunction.
D
Serum albumin measurement is required to distinguish true hypocalcemia from factitious hypocalcemia
Question 9 Explanation: 
In a patient with hypocalcemia, measurement of serum albumin is essential to distinguish true hypocalcemia, which involves a reduction in ionized serum calcium, from factitious hypocalcemia, meaning decreased total, but not ionized, calcium. To correct for hypoalbuminemia, add 0.8 mg/dL to the total serum calcium for each 1 g/dL decrease in albumin below 4 g/dL. Symptomatic patients with classic clinical findings of acute hypocalcemia require immediate resuscitation and evaluation. However, most cases of hypocalcemia are discovered by clinical suspicion and appropriate laboratory testing. The PTH level should be checked as early as possible. Low to normal PTH levels occur in patients with hereditary or acquired hypoparathyroidism and in patients with severe hypomagnesemia. BUN and serum creatinine levels should be measured, because elevated levels may indicate renal dysfunction.
Question 10
Which of the following is accurate regarding treatment of vitamin D deficiency?
A
Treatment should aim to bring serum 25(OH)D levels above 30-32 ng/mL, which is the level at which calcium absorption is optimized
B
Routine screening to determine the need for vitamin D supplementation is indicated in most children and elderly persons
C
Many vegetables are a good source of vitamin D
D
Ingested vitamin D and vitamin D from sun exposure last the same length of time in the blood
Question 10 Explanation: 
A 25(OH)D level of less than 15 or 20 ng/mL has been used to define vitamin D deficiency. Intestinal calcium absorption is optimized at levels above 30-32 ng/mL. PTH levels start to rise at 25(OH)D levels below 31 ng/mL, which is another marker of vitamin D insufficiency. The Endocrine Society, along with the Canadian Society of Endocrinology and Metabolism and the National Osteoporosis Foundation, published a clinical practice guideline in 2011 titled "Evaluation, Treatment and Prevention of Vitamin D Deficiency." The committee recommended screening only individuals who are at high risk for vitamin D deficiency, including patients with osteoporosis or a malabsorption syndrome, as well as black and Hispanic individuals, obese persons, and those with several other medical conditions. Vegetables are not a good source of vitamin D. Sensible sun exposure, especially between the hours of 10:00 AM and 3:00 PM, produces vitamin D in the skin that may last twice as long in the blood compared with ingested vitamin D.
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