123: Cutaneous Changes in Nutritional Disease Flashcards
What are the two main types of Protein Energy Malnutrition (PEM)?
Marasmus and Kwashiorkor.
What is the primary characteristic of Marasmus?
Severe wasting and stunting with body weight for age less than 60% of expected.
What is the primary characteristic of Kwashiorkor?
Edematous or ‘wet’ PEM with body weight for age between 60% to 80% due to inadequate protein or fat intake.
What is the pathophysiological effect of adapted starvation on macronutrient intake?
Decreased intake of all macronutrients, particularly carbohydrates, leads to suppressed insulin production and muscle breakdown.
What are some clinical findings associated with Protein Energy Malnutrition (PEM)?
Failure to thrive, dry and wrinkled skin, hair loss, and loss of subcutaneous fat and muscle mass.
What is a key finding in children with Kwashiorkor?
Failure to thrive, often accompanied by edema and irritability.
What does ‘monkey facies’ refer to in the context of PEM?
The aged or wizened appearance due to loss of buccal fat pads.
What is the significance of the ‘flag sign’ in hair observed in Kwashiorkor?
It indicates alternating bands of light and dark color in the hair shaft due to intermittent periods of malnutrition.
What are the consequences of nonadapted starvation on protein synthesis?
Increased carbohydrate intake relative to decreased protein and fat intake inhibits protein synthesis, leading to hypoproteinemia and fatty liver.
What are the key differences between Marasmus and Kwashiorkor in terms of body weight and nutritional deficiencies?
Disorder | Body Weight for Age | Nutritional Deficiency |
|————|———————|————————-|
| Marasmus | < 60% of expected | Global nutrient deficiencies |
| Kwashiorkor| 60% to 80% of expected| Protein and fat deficiency from grain-derived foods |
What are the clinical findings associated with Marasmus?
- Severe wasting and stunting
- Body weight for age < 60% of expected
- Emaciated appearance
- Dry, thin, loose, wrinkled skin
- Hair growth slows, hair loss, thin, brittle hair
- Nails may show fissuring with impaired growth
- Loss of both subcutaneous fat and muscle mass
- Abdominal muscle hypotonia leading to abdominal distension
- Decreased resting body temperature and bradycardia
What are the clinical findings associated with Kwashiorkor?
- Failure to thrive, especially in children 6 months to 5 years
- Edema and irritability
- Skin findings: generalized dermatitis likened to flaking enamel paint
- Increased pigmentation on extensor surfaces of arms and legs
- Hair color developing a red tint to gray-white hair
- Flag sign observed in hair
- Peripheral edema from hypoproteinemia
- Fatty infiltration of the liver leading to abdominal distention
What are the pathophysiological differences between adapted and nonadapted starvation?
Type of Starvation | Characteristics |
|————————|——————|
| Adapted Starvation | - Decreased intake of all macronutrients, particularly carbohydrates
- Suppressed insulin production
- Muscle breakdown occurs in the first 24 hours
- Fat breakdown creates ketone bodies for brain use
- Reduced muscle breakdown and ammonia synthesis |
| Nonadapted Starvation | - Increased carbohydrate intake relative to decreased protein and fat
- Insulin production is not suppressed
- Hypoproteinemia, edema, and diarrhea develop
- Unable to manufacture lipoproteins, leading to fatty liver
- Increased susceptibility to infections and septicemia |
What are macronutrients and their primary functions?
Macronutrients include carbohydrates, proteins, and lipids. They are nutrients needed in large quantities to fuel metabolic processes and provide the substrate for building and maintaining cellular structure.
What are micronutrients and why are they important?
Micronutrients are vitamins and minerals necessary and required in minute quantities. They play essential roles in various physiological processes.
What are some conditions that put individuals at risk for nutritional diseases?
Conditions include hypercatabolic states (e.g., cancer, AIDS, hepatic/renal disease), GI diseases (e.g., cystic fibrosis, inflammatory bowel disease), GI surgery (e.g., bariatric procedures), chronic medication use (e.g., anticonvulsants, antibiotics), genetic metabolic defects, hepatic disease, and syndromes of nutrient excess.
What is Protein Energy Malnutrition (PEM) and its two main types?
PEM is a spectrum of disorders describing varying degrees of protein and calorie deficiency. The two main types are Marasmus (severe wasting and stunting due to chronic global nutrient deficiencies) and Kwashiorkor (edematous or ‘wet’ PEM caused by diets rich in carbohydrates but poor in protein and fat).
What are the clinical findings of Protein Energy Malnutrition (PEM)?
Clinical findings include failure to thrive, wasting, stunting, dry and wrinkled skin, hair loss, brittle nails, loss of subcutaneous fat and muscle mass, angular cheilitis, bradycardia, and susceptibility to infections.
What is the pathophysiology of adapted starvation?
Adapted starvation involves decreased intake of macronutrients, suppressed insulin production, muscle breakdown in early stages, fat breakdown creating ketone bodies in later stages, and eventual use of lean body mass in prolonged states.
What is the pathophysiology of nonadapted starvation?
Nonadapted starvation occurs when carbohydrate intake is increased relative to decreased protein and fat intake. Insulin production is not suppressed, leading to hypoproteinemia, edema, diarrhea, fatty liver, and susceptibility to infections.
What are the clinical findings of Kwashiorkor?
Findings include failure to thrive with edema, irritability, lethargy, dermatitis resembling flaking enamel paint, red-tinted hair, ‘flag sign’ in hair, peripheral edema, and fatty liver infiltration.
If a patient has a fatty liver and peripheral edema due to hypoproteinemia, what condition might they have?
Kwashiorkor
If a patient presents with a fatty liver, peripheral edema, and abdominal distension, what condition might they have?
Kwashiorkor
What are the steps involved in the pathophysiology of adapted starvation?
- Decreased intake of all macronutrients, particularly carbohydrates, suppresses insulin production.
- Catabolic hormones act unopposed, converting glycogen into glucose.
- Early stages: Muscle breakdown occurs within the first 24 hours, and gluconeogenesis releases glucose.
- Later stages: Fat breakdown creates ketone bodies, which are utilized by the brain and CNS, reducing muscle breakdown and ammonia synthesis.
- In prolonged states: Wasting occurs, and lean body mass is eventually used when all other sources are expended.
What are the steps in the pathophysiology of nonadapted starvation?
- Increased carbohydrate intake relative to decreased protein and fat intake.
- Insulin production is not suppressed.
- Without concomitant fat and protein intake, insulin inhibits protein synthesis.
- Hypoproteinemia, edema, and diarrhea develop.
- Without protein synthesis, the body cannot manufacture lipoproteins, leading to fat accumulation and fatty liver.
- Immune proteins are not produced, increasing susceptibility to opportunistic infections and septicemia.
What are the steps in the pathophysiology of Protein-Energy Malnutrition (PEM)?
- Chronic nutrient deficiencies lead to suppressed insulin production.
- Catabolic hormones dominate, leading to muscle and fat breakdown.
- In marasmus, severe wasting and stunting occur due to global nutrient deficiencies.
- In kwashiorkor, hypoproteinemia leads to edema and fatty liver.
- Immune proteins are not produced, increasing susceptibility to infections.
What are the steps in the clinical findings of kwashiorkor?
- Failure to thrive and poor weight gain are observed.
- Skin findings include generalized dermatitis and flaking resembling enamel paint.
- Hair develops a red tint or gray-white color, with intermittent bands of light and dark color (flag sign).
- Peripheral edema develops due to hypoproteinemia.
- Fatty infiltration of the liver leads to abdominal distension.
A patient presents with peripheral edema, abdominal distension, and a history of a carbohydrate-rich but protein-poor diet. What is the likely diagnosis, and what is the underlying pathophysiology?
The likely diagnosis is kwashiorkor. The underlying pathophysiology involves nonadapted starvation, where increased carbohydrate intake relative to protein and fat leads to hypoproteinemia, edema, and fatty liver infiltration.
What is Marasmic Kwashiorkor?
A hybrid form of malnutrition where stunting is associated with edema.
What are some common conditions associated with PEM in adults?
Chronic illnesses, eating disorders like anorexia nervosa, and elderly patients.
What percentage of adult dialysis patients are estimated to have PEM?
25% to 50%.
What are some manifestations of PEM?
Xerosis, acquired ichthyosis, hyperpigmentation, diffuse telogen effluvium, lanugo, and dull hair.
What laboratory tests are important for diagnosing PEM?
Screening for hypoglycemia, anemia, urinalysis, blood smear for malaria, and skin testing for tuberculosis.
What is the significance of elevated soluble CD14 levels in patients?
They are indicators of protein-energy wasting and increased mortality in hemodialysis patients.
What is the preferred treatment for patients with PEM?
Oral refeeding with rehydration salts or fortified formulas as tolerated.
What should be avoided during IV hyperalimentation in PEM patients?
Excessively rapid rehydration due to the risk of congestive heart failure.
What are some differential diagnoses for PEM?
Acrodermatitis enteropathica, atopic dermatitis, seborrheic dermatitis, and Langerhans cell histiocytosis.
What are the common manifestations of Protein Energy Malnutrition (PEM) in adults?
Common manifestations of PEM in adults include:
1. Xerosis or acquired ichthyosis
2. Hyperpigmentation in areas such as the perioral, periocular, and malar regions
3. Diffuse telogen effluvium, lanugo, and thin, dry, dull hair
What laboratory tests are recommended for patients suspected of having Kwashiorkor?
Recommended laboratory tests for patients suspected of having Kwashiorkor include:
- Screening for hypoglycemia and anemia
- Urinalysis and blood smear for malaria parasites
- Fecalysis for blood and parasites
- Skin testing for tuberculosis
- Chest X-ray to check for pneumonia, tuberculosis, heart failure, rickets, and fractures
What are the treatment options for patients with Marasmic Kwashiorkor?
Treatment options for patients with Marasmic Kwashiorkor include:
1. Hospitalization due to concurrent hypoglycemia, hypothermia, dehydration, and sepsis
2. IV hyperalimentation for those who are not awake and responsive (avoid rapid rehydration)
3. Oral refeeding with rehydration salts or fortified formulas as tolerated
4. Empiric antibiotic therapy may be considered for suspected sepsis
What is Marasmic Kwashiorkor?
It is a hybrid form of malnutrition where stunting is associated with edema.
What condition might a patient with diffuse telogen effluvium and hyperpigmentation of the malar areas have?
Protein-energy malnutrition (PEM) in adults.
What condition might a patient with diffuse telogen effluvium, xerosis, and hyperpigmentation of the malar areas have?
Protein-energy malnutrition (PEM) in adults.
What condition might a patient with a history of chronic systemic inflammatory response to dialysis and presents with xerosis and acquired ichthyosis have?
Protein-energy malnutrition (PEM) in adults.
What condition might a patient with a history of chronic systemic inflammation and elevated soluble CD14 levels have?
Protein-energy malnutrition (PEM).
What does elevated soluble CD14 levels in hemodialysis patients indicate?
It indicates protein-energy wasting and systemic inflammation, associated with increased mortality and elevated markers such as C-reactive protein and interleukin-6.
What is the function of essential fatty acids (EFAs)?
Cell membrane fluidity, inflammatory mediators, and lamellar granule formation in the stratum corneum.
What are common causes of essential fatty acids (EFAs) deficiency?
Inadequate intake, malabsorption, or excessive loss.
Who are patients at risk for EFA deficiency?
Individuals with poor dietary intake, alcoholics, anorexia nervosa, malabsorptive conditions, cystic fibrosis patients, and premature low-birthweight infants.
What are some clinical findings associated with EFA deficiency?
Xerosis, scaly skin, poor wound healing, brittle nails, alopecia, and hyper/hypopigmentation of hair.
What laboratory tests indicate EFA deficiency?
Low levels of linoleic acid and arachidonic acid, and an abnormal intermediary ratio of 5,8,11-eicosatrienoic acid to arachidonic acid.
What is the optimal treatment for EFA deficiency?
Oral or intravenous supplementation of EFA, representing 1% to 2% of total daily calories.
What is the most common cause of preventable childhood blindness?
Vitamin A deficiency.
What condition results from Vitamin K deficiency in newborns?
Hemorrhagic disease of the newborn, which can present with bleeding.
What is carotenemia?
A condition resulting from excess carotene not converted to vitamin A in the intestinal mucosa deposits in the stratum corneum.
What is recommended for exclusively breastfed infants regarding Vitamin D?
Vitamin D supplementation is recommended for exclusively breastfed infants and others with inadequate oral intake or sun exposure.
What are the clinical findings associated with essential fatty acid (EFA) deficiency?
Findings include xerosis, scaly erythema, poor wound healing, brittle nails, alopecia, fatty liver infiltration, blunted immune response, anemia, thrombocytopenia, and growth retardation.
What are the dietary sources of essential fatty acids (EFAs)?
Essential fatty acids (EFAs) are derived from fish oils (ω-3 series) and vegetable oils (ω-6 series).
What is the optimal treatment for preventing essential fatty acid deficiency?
Topical application of sunflower seed and safflower oils containing linoleic acid, oral or intravenous supplementation of EFAs, and ensuring that EFAs represent 1% to 2% of total daily calories.
What are the risk factors for essential fatty acid (EFA) deficiency?
Patients at risk include individuals with poor dietary intake, alcoholics, those with anorexia nervosa, individuals with malabsorptive conditions, cystic fibrosis patients, and premature low-birthweight infants.
What are the consequences of vitamin A deficiency?
Vitamin A deficiency can lead to preventable childhood blindness and carotenemia.
What are the sources of essential fatty acids (EFAs)?
Sources include fish oil and vegetable oil.
What are the two main series of essential fatty acids (EFAs) and their sources?
The ω-3 series is derived from α-linoleic acid found in fish oils, while the ω-6 series is derived from linoleic acid found in vegetable oils.
What is the treatment for essential fatty acid (EFA) deficiency?
Treatment includes topical application of oils containing linoleic acid and oral or intravenous supplementation of EFAs.
What are the fat-soluble vitamins and their key deficiencies?
Fat-soluble vitamins include A, D, E, and K. Vitamin A deficiency causes preventable childhood blindness, Vitamin D deficiency leads to rickets, Vitamin E deficiency can cause neurodegenerative disorders, and Vitamin K deficiency leads to impaired coagulation and hemorrhage.
What condition might a patient with severe alopecia, brittle nails, and poor wound healing have?
Essential fatty acid deficiency.
What deficiency might a patient with xerosis, scaly erythema, and intertriginous erosions have?
Essential fatty acid deficiency.
What deficiency might a patient with a history of cystic fibrosis and presents with poor wound healing, brittle nails, and alopecia have?
Essential fatty acid deficiency.
What deficiency might a patient with hypopigmented hair, brittle nails, and traumatic purpura have?
Essential fatty acid deficiency.
What are the steps in the pathogenesis of essential fatty acid (EFA) deficiency?
- Inadequate intake, malabsorption, or excessive loss of EFAs occurs. 2. Linoleic acid levels decrease, leading to abnormal byproducts. 3. Plasma levels of 5,8,11-eicosatrienoic acid increase. 4. The ratio of this abnormal intermediary to arachidonic acid (≥0.2) confirms EFA deficiency.
What are the steps in the treatment of essential fatty acid (EFA) deficiency?
- Topical application of sunflower seed or safflower oils containing linoleic acid improves cutaneous findings. 2. Oral or intravenous supplementation of EFAs is the optimal treatment. 3. Ensure EFAs represent 1% to 2% of total daily calories to prevent deficiency.
What is the likely deficiency and treatment for a patient with cystic fibrosis presenting with xerosis, scaly erythema, and poor wound healing?
The likely deficiency is essential fatty acid (EFA) deficiency. Treatment involves oral or intravenous supplementation of EFAs, ensuring they represent 1% to 2% of total daily calories.
What is the diagnosis and laboratory marker for a patient with xerosis, scaly erythema, and intertriginous erosions with low levels of linoleic and arachidonic acids?
The diagnosis is essential fatty acid (EFA) deficiency. The diagnostic marker is an elevated ratio (≥0.2) of 5,8,11-eicosatrienoic acid to arachidonic acid.
What deficiency and treatment might a patient with diffuse alopecia, brittle nails, and poor wound healing and a history of biliary disease have?
The likely deficiency is essential fatty acid (EFA) deficiency. Treatment involves oral or intravenous supplementation of EFAs, ensuring they represent 1% to 2% of total daily calories.
What is the diagnosis and treatment for a patient with xerosis, scaly erythema, and poor wound healing with low levels of linoleic acid?
The diagnosis is essential fatty acid (EFA) deficiency. Treatment involves oral or intravenous supplementation of EFAs, ensuring they represent 1% to 2% of total daily calories.
What is the diagnosis and pathophysiology for a patient with erythema, intertriginous erosions, and brittle nails with elevated 5,8,11-eicosatrienoic acid levels?
The diagnosis is essential fatty acid (EFA) deficiency. The pathophysiology involves impaired synthesis of arachidonic acid and other EFAs, leading to skin and systemic manifestations.
What deficiency and treatment might a patient with alopecia, xerosis, and poor wound healing and a history of cystic fibrosis have?
The likely deficiency is essential fatty acid (EFA) deficiency. Treatment involves oral or intravenous supplementation of EFAs, ensuring they represent 1% to 2% of total daily calories.
What is the role of vitamin A in the body?
Vitamin A is important in retinal photoreceptor function, epithelial proliferation, and keratinization.
What are the two most clinically important metabolites of vitamin A?
Retinal and retinoic acid.
What is retinal’s role in the body?
Retinal is a key component of rhodopsin generation.
What regulates cell differentiation in the body?
Retinoic acid.
What are some plant sources of vitamin A?
Dark green leafy vegetables, red palm oil, and brightly colored fruits like papaya, mango, carrots, tomatoes, apricots, and cantaloupe.
What is beta-carotene?
Beta-carotene is a precursor to vitamin A found in plants.
How is retinol formed in the body?
Retinal can be reduced to retinol in intestinal villous cells.
What are animal sources of vitamin A?
Egg yolk, liver, fish, fortified milk, and dairy products.
How are retinyl esters related to vitamin A?
Retinyl esters are vitamin A in animal sources, which are hydrolyzed to retinol in the intestinal lumen.
What happens to retinol in the liver?
In the liver, retinol is stored as retinyl esters and can be converted back to retinol when needed.
What are the two most clinically important metabolites of Vitamin A?
- Retinal - a key component of rhodopsin generation. 2. Retinoic acid - regulates cell differentiation.
What are the primary plant sources of Vitamin A?
Dark, green, leafy vegetables, red palm oil, and brightly colored fruits (papaya, mango, carrots, tomatoes, apricots, cantaloupe).
How is retinol stored in the liver and what happens when it is needed?
In the liver, retinol is stored as Retinyl Esters. When needed, it can be converted to retinol and bound to retinol binding protein and transthyretin for circulation throughout the body.
What is the role of Retinyl Esters in the metabolism of Vitamin A?
Retinyl Esters are vitamin A in animal sources, which are hydrolyzed to retinol in the intestinal lumen and then released into the bloodstream bound to chylomicrons for transport to the liver.
What is the significance of beta-carotene in relation to Vitamin A?
Beta-carotene is a precursor to vitamin A found in plants, existing as a 2-molecule complex of the carotenoid known as Retinal.
What are the primary sources of Vitamin A?
Plant sources include dark green leafy vegetables, red palm oil, and brightly colored fruits. Animal sources include egg yolk, liver, fish, fortified milk, and dairy products.
What are the steps in the pathogenesis of Vitamin A metabolism?
- Plant sources provide beta-carotene, a Vitamin A precursor. 2. Beta-carotene is converted to retinal in intestinal villous cells. 3. Retinal is reduced to retinol, which is esterified to retinyl esters in the intestinal mucosa. 4. Retinyl esters are released into the bloodstream bound to chylomicrons and transported to the liver for storage. 5. In the liver, retinyl esters are converted to retinol and bound to retinol-binding protein and transthyretin for circulation throughout the body.
What is the most common cause of preventable blindness in children?
Vitamin A deficiency (VAD).
What are the early manifestations of Vitamin A deficiency?
Impaired dark adaptation (nyctalopia) followed by xerophthalmia.
What skin condition is associated with Vitamin A deficiency?
Phrynoderma, also known as ‘toad skin’.
What are the recommended daily allowances (RDA) of Vitamin A for adult males and females?
700 mcg for adult females and 900 mcg for adult males.
What is the treatment for Vitamin A deficiency?
600 to 3000 mcg of oral vitamin A daily until symptoms resolve and serum levels normalize.
What laboratory test can indicate low serum retinol levels?
The presence of serum retinoic acid for 4 hours after oral administration of retinoyl glucuronide.
What are Bitot spots and their association with Vitamin A deficiency?
White patches on the conjunctiva associated with Vitamin A deficiency.
What are some primary causes of Vitamin A deficiency?
Inadequate intake, fat malabsorption states, and liver disease.
What are the cutaneous findings associated with severe Vitamin A deficiency?
Corneal xerosis, ulceration, keratomalacia, and deep skin fissuring (dermomalacia).
What indicates low serum retinol levels?
The presence of serum retinoic acid for 4 hours after oral administration of retinoyl glucuronide.
What are the early clinical manifestations of Vitamin A deficiency (VAD)?
- Impaired dark adaptation (nyctalopia)
- Xerophthalmia
- Corynebacterium xerosis on the sclera
- Bitot spots: white patches
What is the recommended daily allowance (RDA) of Vitamin A for adult males and females?
Group | RDA (mcg) |
|—————-|———–|
| Adult females | 700 |
| Adult males | 900 |
What are the severe clinical findings associated with Vitamin A deficiency?
- Corneal xerosis
- Ulceration
- Keratomalacia, which may lead to corneal perforation, prolapse of the iris, and blindness
What are the primary causes of Vitamin A deficiency (VAD)?
- Inadequate intake
- Fat malabsorption states
- Liver disease
- Eating disorders and restrictive diets
- Chronic illness
What is Phrynoderma and how is it associated with Vitamin A deficiency?
Phrynoderma, or ‘toad skin,’ is characterized by keratotic follicular papules on the anterolateral thighs and posterolateral upper arms, which can spread to other areas. It is nonspecific and can also indicate deficiencies in B-complex vitamins, vitamin C, vitamin E, EFA deficiency, PEM, and general malnutrition states.
What are the clinical findings of Vitamin A deficiency?
Findings include impaired dark adaptation (nyctalopia), xerophthalmia, Bitot spots, corneal xerosis, keratomalacia, xerosis, scaling, and squamous metaplasia of mucosal surfaces.
If a patient has Bitot spots and impaired dark adaptation, what condition might they have?
Vitamin A deficiency.
If a patient has a history of restrictive diets and presents with xerophthalmia, Bitot spots, and impaired dark adaptation, what condition might they have?
Vitamin A deficiency.
If a patient has a history of inadequate dietary intake and presents with keratotic follicular papules on the anterolateral thighs, what condition might they have?
Vitamin A deficiency (Phrynoderma).
If a patient has a history of inadequate dietary intake and presents with deep skin fissuring and squamous metaplasia of the salivary glands, what condition might they have?
Vitamin A deficiency.
If a patient has a history of chronic liver disease and presents with Bitot spots, xerosis, and keratomalacia, what condition might they have?
Vitamin A deficiency.
What are the steps in the treatment of Vitamin A deficiency?
- Administer 600 to 3000 mcg of oral Vitamin A daily until symptoms resolve and serum levels normalize.
- Adjust dosage based on age and physiological state (e.g., pregnancy, lactation).
- Monitor for early manifestations such as impaired dark adaptation and xerophthalmia.
- Address severe deficiency symptoms like corneal xerosis and keratomalacia to prevent blindness.
What are the steps in the clinical findings of Vitamin A deficiency?
- Early manifestations include impaired dark adaptation (nyctalopia) and xerophthalmia.
- Bitot spots (white patches) appear on the sclera.
- Severe deficiency leads to corneal xerosis, ulceration, and keratomalacia.
- Cutaneous findings include xerosis, scaling, and deep skin fissuring (dermomalacia).
- Squamous metaplasia affects salivary glands, nasal and oral mucosa, causing xerostomia, hyposmia, and hypogeusia.
A patient presents with follicular hyperkeratosis, xerosis, and Bitot spots on the sclera. What is the likely deficiency, and what is the recommended treatment?
The likely deficiency is vitamin A deficiency. Treatment involves administering 600 to 3000 mcg of oral vitamin A daily until symptoms resolve and serum levels normalize.
A patient presents with follicular hyperkeratosis, xerosis, and keratomalacia. The patient’s diet lacks dark green leafy vegetables and animal products. What is the diagnosis, and what is the pathophysiology?
The diagnosis is vitamin A deficiency. The pathophysiology involves impaired epithelial proliferation and keratinization due to a lack of retinoic acid, a metabolite of vitamin A.
What are the acute symptoms of Vitamin A toxicity?
Dry, scaly skin, large areas of desquamation, fissuring of the lips, headache, fatigue, anorexia, nausea, vomiting, blurred vision, pseudotumor cerebri, myalgias, arthralgias, and bone pain.
What is the chronic toxicity threshold for Vitamin A in adults?
Daily ingestion of more than 100,000 IU for more than 6 months.
What are the laboratory findings associated with Vitamin A toxicity?
Elevated levels of calcium and alkaline phosphatase, leading to calcification of tendons, ligaments, and soft tissues.
What dietary factors can lead to increased carotene levels?
Hypothyroidism, pancreatic or biliary dysfunction, mashing or cooking vegetables, high-fat meals, and certain conditions leading to hyperlipidemia.
What are the clinical findings of chronic Vitamin A toxicity in adults?
Dryness of the lips, peeling of palms and soles, alopecia, hyperpigmentation of the face and neck, anorexia, fatigue, and weight loss.
What is carotenemia and what causes it?
Carotenemia is a benign disorder characterized by yellow skin pigmentation and increased serum carotene levels, often due to excessive intake of carotene.
What are the risks associated with excessive beta-carotene supplementation?
Increased risk of lung, gastric cancer, and aggressive prostate cancer.
What is the relationship between Vitamin A and calcium-regulating hormones?
Vitamin A-mediated and Vitamin D-mediated intracellular signaling pathways interact with calcium-regulating hormones, which can lead to pathological bone findings.
What are the clinical findings associated with acute vitamin A toxicity?
- Dry, scaly skin, large areas of desquamation
- Fissuring of the lips and angles of the mouth
- Headache, fatigue, anorexia, nausea, vomiting, blurred vision, pseudotumor cerebri
- Myalgias, arthralgias, and bone pain and swelling
What are the risks associated with chronic vitamin A toxicity?
- Daily ingestion of >25,000 IU for >6 years or >100,000 IU for >6 months of preformed vitamin A
- Increased sensitivity in children compared to adults
- Risks include systemic vitamin A derivatives for acne, psoriasis, and ichthyosis
What laboratory tests are relevant for assessing vitamin A toxicity?
- Levels of calcium and alkaline phosphatase
- Indicators of calcification of tendons, ligaments, and soft tissues
- Deposition of excess vitamin A in adipose tissue and perisinusoidal fibrosis of the liver, leading to cirrhosis
What are the potential effects of excessive carotene intake?
- Carotenemia: yellow skin pigmentation and increased serum carotene levels
- Associated with a shift from a meat-based diet to a more plant-based diet
- Risk of lung, gastric cancer, and aggressive prostate cancer due to beta-carotene supplementation
What conditions can lead to elevated carotene levels?
Condition | Effect on Carotene Levels |
|———–|————————–|
| Hypothyroid | Decreased conversion to retinol |
| Pancreatic/Biliary Dysfunction | Elevated carotene levels due to deficiency of pancreatic lipase and bile acids |
| High-fat meal | Increased absorption |
| Liver Disease | Impaired conversion of carotene to vitamin A |
| Anorexia Nervosa | Reduced intake of vegetables and carotene-rich foods |
What are the clinical findings of Vitamin A toxicity?
Acute toxicity includes dry, scaly skin, headache, nausea, and pseudotumor cerebri. Chronic toxicity includes alopecia, hyperpigmentation, exfoliative cheilitis, and skeletal changes like growth retardation and spontaneous fractures.
If a patient has a history of consuming large quantities of nonprescription vitamin A supplements and presents with alopecia, hyperpigmentation, and pseudotumor cerebri, what condition might they have?
Vitamin A toxicity.
What are the steps in the clinical findings of Vitamin A toxicity?
- Acute toxicity presents with dry, scaly skin, desquamation, and fissuring of the lips.
- Symptoms include headache, fatigue, anorexia, nausea, vomiting, and blurred vision.
- Chronic toxicity in adults causes dryness of the lips, pruritic scaly skin, and alopecia.
- In children, coarse hair, diffuse alopecia, and pseudotumor cerebri are observed.
- Skeletal changes include growth retardation and spontaneous bone fractures.
A patient presents with dry, scaly skin, alopecia, and pseudotumor cerebri. The patient has been taking high doses of vitamin A supplements for several months. What is the likely condition, and what should be done?
The likely condition is chronic vitamin A toxicity. Treatment involves discontinuing the excess vitamin A intake, which will resolve symptoms except for liver cirrhosis and pseudotumor cerebri consequences.
What does excessive ingestion of carotenes NOT result in?
Hypervitaminosis A.
What is carotenoderma?
The yellow discoloration of skin due to carotenemia, sparing mucous membranes like the sclera.
What is the primary source of Vitamin D synthesis in the body?
From the precursor molecule 7-dehydrocholesterol by UV light.
What are the dietary sources of Vitamin D?
Fortified milk, fish oil, and fish such as salmon, sardines, herring, tuna, cod, and shrimp.
What is the most common disorder related to Vitamin D deficiency?
Vitamin D-deficient rickets.
What is the treatment for Type I Vitamin D-dependent rickets?
Supplements of 1,25-hydroxyvitamin D.
What are the risks associated with Vitamin D deficiency?
Increased risk of cardiovascular disease, hip fractures, and colon cancer mortality.
What groups are at risk for Vitamin D deficiency?
Those with inadequate diet, malabsorption, decreased sunlight exposure, elderly, and exclusively breastfed babies without supplementation.
What is the effect of Vitamin D on the immune response?
It is involved in the innate immune response and promotes macrophage activation.
What is the clinical significance of carotenemia and carotenoderma?
- Excessive ingestion of carotenes does NOT result in hypervitaminosis A.
- Slow conversion of carotene to vitamin A in the intestinal mucosa is not rapid enough to produce toxic amounts of vitamin A.
- Carotenoderma presents as yellow discoloration of skin, sparing mucous membranes, and is noticeable in artificial light.
What laboratory findings indicate carotenemia?
- Occurs when serum levels reach 3-4 times normal levels (> 250 mcg/dL).
- Detectable at 4 to 7 weeks following initiation of a carotenoid-rich diet.
What are the types of Vitamin D-dependent rickets?
Type | Description | Treatment |
|——|————-|———–|
| I | Autosomal recessive defect in renal vitamin D-1α-hydroxylase | Supplements of 1,25-hydroxyvitamin D |
| II | Hereditary Vitamin D-resistant rickets | High doses of 1,25-hydroxyvitamin D and Ca |
What factors contribute to Vitamin D deficiency?
- Avoidance of sun exposure
- Excessive transepidermal calcium loss
- Defective Vitamin D synthesis in affected skin
- Decreased intestinal calcium absorption secondary to systemic retinoid therapy
What is the role of 1α-hydroxylase?
It is involved in the synthesis of 1,25-hydroxyvitamin D.
What is the treatment for Hereditary Vitamin D-resistant rickets?
High doses of 1,25-hydroxyvitamin D and calcium.
What factors contribute to Vitamin D deficiency?
- Avoidance of sun exposure
- Excessive transepidermal calcium loss
- Defective Vitamin D synthesis in affected skin
- Decreased intestinal calcium absorption secondary to systemic retinoid therapy
What are the groups at risk for Vitamin D deficiency?
- Individuals with inadequate diet
- Those with malabsorption issues
- Elderly or debilitated individuals
- People on anticonvulsants
- Dark-skinned individuals in areas with poor sun exposure
- Exclusively breastfed babies without vitamin supplementation
What is carotenemia?
Carotenemia is a benign disorder caused by excessive intake of carotene, leading to yellow skin pigmentation (carotenoderma) that spares mucous membranes.
If a patient has a yellow discoloration of the skin that spares the sclera, what condition might they have?
Carotenemia
If a patient presents with a yellow discoloration of the skin that is most noticeable in artificial light and spares the sclera, what condition might they have?
Carotenemia
If a patient presents with a history of consuming large amounts of carrots and papayas and symptoms of yellow skin pigmentation sparing the sclera, what condition might they have?
Carotenemia
What are the steps in the synthesis and activation of Vitamin D?
- Vitamin D is obtained through dietary intake (e.g., fortified milk, fish oil) or synthesized in the epidermis from 7-dehydrocholesterol (provitamin D3) by UV light.
- Previtamin D3 undergoes spontaneous, temperature-dependent isomerization to Vitamin D3 (cholecalciferol).
- Vitamin D3 enters the dermal capillaries and joins exogenous Vitamin D2 (ergocalciferol).
- In the liver, Vitamin D undergoes hydroxylation to form 25-hydroxyvitamin D.
- In the kidney, 25-hydroxyvitamin D is hydroxylated again to form the active form, 1,25-hydroxyvitamin D (calcitriol).
What is the likely condition for a patient with yellow discoloration of the skin, particularly on the palms and soles, but the sclera is spared?
The likely condition is carotenemia or carotenoderma.
Treatment involves discontinuing excessive carotene intake, after which the yellow pigmentation will fade.
What are the classic manifestations of vitamin D-deficient rickets?
Ca and P deficiency leads to poor calcification of new bones, fraying and widening of the metaphysis, rachitic rosary, craniotabes, lateral bowing of the lower extremities, frontal bossing, widening of the wrists, scoliosis, hypotonia, fractures, dental defects, and hypocalcemic seizures or tetany.
What is the recommended daily value of vitamin D?
5 to 10 mcg.
What is the role of sunlight in vitamin D production?
Limited sun-light exposure is necessary to produce adequate amounts of vitamin D3.
What are the laboratory indicators of vitamin D deficiency?
Alkaline phosphatase levels and serum 25-hydroxyvitamin D levels.
What is the treatment for vitamin D deficiency?
Oral vitamin D repletion with dihydroxyvitamin D in addition to a calcium-rich diet, and 200 to 400 mcg vitamin D per day until resolution of symptoms.
What is the significance of vitamin E in the diet?
Vitamin E is a fat-soluble vitamin associated with deficiency or excess states of disease, found in oils, fortified grains, dark-green leafy vegetables, legumes, nuts, and small fishes.
What can excessive intake of vitamin E lead to?
It may augment the effects of anticoagulant medications, leading to purpura or hemorrhage.
What is a rare consequence of isolated vitamin E deficiency?
It can lead to ataxia, a severe spinocerebellar neurodegenerative disorder with autosomal recessive inheritance.
What is the effect of α-tocopherol transfer protein mutations?
It leads to the inability to transfer α-tocopherol from lysosomes into lipoproteins, resulting in oxidative stress in affected cells.
What are the classic clinical manifestations of vitamin D deficiency in rickets?
- Ca and P deficiency leads to poor calcification of new bones
- Fraying and widening of the metaphysis
- Rachitic rosary at costochondral junctions of the anterior ribs
- Craniotabes: Poor calcification and softening of skull bones
- Lateral bowing of the lower extremities
- Frontal bossing, widening of the wrists, scoliosis, hypotonia, fractures
- Dental defects
- Hypocalcemic seizures or tetany
What laboratory tests are indicators of vitamin D deficiency?
- Alkaline phosphatase levels
- Serum 25-hydroxyvitamin D levels
- Parathyroid hormone levels to compensate for deficiency
What is the recommended treatment for vitamin D deficiency?
- Oral vitamin D repletion with dihydroxyvitamin D
- Calcium-rich diet
- 200 to 400 mcg vitamin D/day until resolution of symptoms (approx. 2 to 3 months)
- Judicious sun exposure
What are the potential consequences of vitamin E deficiency?
- Rarely associated with deficiency, but can lead to ataxia
- Severe spinocerebellar neurodegenerative disorder with autosomal recessive inheritance
- Excessive intake may augment the effects of anticoagulant medications, leading to purpura/hemorrhage
What is the role of D-α-Tocopheryl polyethylene glycol-1000 succinate (TPGS) in vitamin D absorption?
TPGS is a water-soluble vitamin E that forms micelles at low concentrations, enhancing vitamin D absorption.
What are the clinical findings of Vitamin D deficiency?
Findings include poor bone calcification, rachitic rosary, craniotabes, bowing of lower extremities, dental defects, and hypocalcemic seizures.
If a patient presents with hypocalcemic seizures and rachitic rosary, what condition might they have?
Vitamin D deficiency.
If a patient has a ping-pong ball feel to their skull bones, what condition might they have?
Vitamin D deficiency (Craniotabes).
If a patient has a history of inadequate sun exposure and presents with lateral bowing of the lower extremities and frontal bossing, what condition might they have?
Vitamin D deficiency (Rickets).
If a patient has a history of chronic renal failure and presents with hypocalcemic seizures and dental defects, what condition might they have?
Vitamin D deficiency.
What are the steps in the treatment of Vitamin D deficiency?
- Administer oral Vitamin D repletion with dihydroxyvitamin D in addition to a calcium-rich diet.
- Provide 200 to 400 mcg of Vitamin D per day until symptoms resolve, approximately 2 to 3 months.
- Encourage judicious sun exposure.
- For hepatic rickets, use D-α-Tocopheryl polyethylene glycol-1000 succinate (TPGS) to enhance Vitamin D absorption.
- Promote cutaneous synthesis of Vitamin D through UV radiation.
What are the steps in the clinical findings of Vitamin D deficiency?
- Calcium and phosphorus deficiency lead to poor calcification of new bones.
- Early signs include widening of the epiphyseal plate and blurring of the epiphyseal-metaphyseal junction.
- Later signs include growth plate deformities, cortical spurs, and generalized osteopenia.
- Manifestations include rachitic rosary, craniotabes, and lateral bowing of the lower extremities.
- Severe cases may result in hypocalcemic seizures or tetany.
What are the steps in the treatment of Vitamin E deficiency?
- Identify and address underlying causes such as malabsorption or dietary insufficiency.
- Administer oral or intravenous Vitamin E supplementation.
- Monitor for improvement in symptoms such as ataxia and neurodegenerative signs.
A 2-year-old child presents with bowing of the lower extremities, frontal bossing, and delayed growth. What is the likely diagnosis and treatment?
The likely diagnosis is vitamin D–deficient rickets. Treatment involves oral vitamin D supplementation (200 to 400 mcg/day) and a calcium-rich diet for 2 to 3 months.
A patient presents with hypocalcemic seizures, frontal bossing, and widening of the wrists. What is the diagnosis, and what is the treatment?
The diagnosis is vitamin D–deficient rickets. Treatment involves oral vitamin D supplementation (200 to 400 mcg/day) and a calcium-rich diet for 2 to 3 months.
A patient with chronic renal failure presents with hypocalcemia, poor bone calcification, and dental defects. What is the likely deficiency, and what is the treatment?
The likely deficiency is vitamin D. Treatment involves oral vitamin D supplementation and a calcium-rich diet.
What is the role of Vitamin K in the body?
Vitamin K is a cofactor in the carboxylation of glutamate residues on coagulation factors II, VII, IX, X, and proteins C and S.
What are the dietary sources of Vitamin K?
Green leafy vegetables, certain legumes, soybeans, cereals, and beef liver.
What is the clinical significance of Vitamin K deficiency in neonates?
It can lead to Hemorrhagic Disease of the Newborn (HDN), characterized by unexpected bleeding in the first week of life.
What are the laboratory tests used to diagnose Vitamin K deficiency?
Prothrombin time (PT), activated partial thromboplastin time (aPTT), and des-γ-carboxy prothrombin levels.
What is the treatment for severe Vitamin K deficiency?
Fresh-frozen plasma or parenteral/IM administration of 5 to 10 mg of Vitamin K per day.
What are the symptoms of Vitamin K deficiency in older children and adults?
Purpura, ecchymoses, gingival bleeding, and gastrointestinal, genitourinary, and retroperitoneal hemorrhage.
What can interfere with Vitamin K metabolism?
Medications such as anticonvulsants (phenytoin), rifampin, isoniazid, high-dose salicylates, cholestyramine, and cephalosporins.
What is the consequence of Vitamin C deficiency?
It causes scurvy, which presents with follicular hyperkeratosis, curled corkscrew hairs, and a bleeding diathesis.
