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Friday, January 16, 2009

VITAMIN DEFICIENCY

VITAMIN DEFICIENCY - Samuel N. Grief, MD, FCFP
BASICS
DESCRIPTION
Vitamin deficiencies
• Vitamins are essential micronutrients required for normal metabolism, growth, and development.
• Deficiencies usually related to disease can occur under healthy conditions. NOTE: Deficiencies are rarely diagnosed or documented in the western world. Regulations mandating vitamin supplementation in food products, adequate food supply, availability of vitamin supplements, and lack of physician awareness all play a role.
GENERAL PREVENTION
• Adequate intake of an appropriately balanced diet containing carbohydrates, proteins, and fats
• Avoidance of fad diets
• Vitamin or nutrition supplementation when appropriate
EPIDEMIOLOGY
• Affects mainly geriatric population
• Occurs in select adult demographics: Pregnant women, chronic disease states (see "Etiology")
• Travelers spending extended time in developing nations
Incidence
• Very low for isolated vitamin deficiencies in western world; true incidence unknown
• Vitamin levels rarely measured (exceptions include vitamin B12-incidence increases over age 50; and folate-incidence increases with specific states: Pregnancy, antiepileptic drugs, neoplastic processes, alcoholism)
Prevalence
Varies by
• Age groups (1)[C]
• Comorbid conditions
• Geography
• Setting (i.e., urban, rural)
RISK FACTORS
Poverty, malnutrition, chronic disease states, advanced age
Genetics
• Cystic fibrosis
• Rare genetic predisposition
- Autoimmune disease (e.g., pernicious anemia)
- Congenital enzyme deficiencies (e.g., biotinidase deficiency)
- Transcobalamin II deficiency
- Ataxia and vitamin E deficiency (AVED)
- A--lipoproteinemia
PATHOPHYSIOLOGY
Various mechanisms, including
• Bleeding diathesis
• Bone disruption
• Cognitive impairment
• Visual distortion
• Skin breakdown
• Anemia
• Alopecia
• Cardiovascular compromise
ETIOLOGY
• Chronic disease states: (e.g., HIV, malabsorption, chronic liver and kidney disease, alcoholism, pernicious anemia)
• Gastric surgeries: (e.g., gastric bypass, gastrectomy, small or large bowel resection)
• Predisposition related to certain medicines: (e.g., prednisone, phenytoin, isoniazid, protease inhibitors, proton pump inhibitors, chronic antibiotic use, penicillamine, hydralazine)
• Malnutrition, imbalanced nutrition, eating disorders: Obesity, bulimia/anorexia, fad diets, extreme vegetarianism
• Dialysis
• Parasitic infestation
ASSOCIATED CONDITIONS
• Osteoporosis, anemia, neuropathies
• Hartnup disease

DIAGNOSIS
SIGNS AND SYMPTOMS
• Night blindness
• Macular degeneration
• Decreased visual acuity
• Poor wound
• Healing
• Hyperkeratosis of skin
• Neuropathy
• Abnormal food cravings (pica)
• Osteomalacia
• Spina bifida
History
• Previous gastrointestinal or gastric bypass surgery
• Prior or current medical conditions
- TB
- HIV
- Hepatitis
- Neoplastic condition
- Hypermetabolic state
 Thyrotoxicosis
 Second or third degree burns
 Wound healing
 Any other systemic infection
- Any chronic disease requiring steroids or immunosuppressants
- Any malabsorption or chronic gastrointestinal disorder
 Celiac disease, sprue, Crohn, ulcerative colitis
• Parenteral or enteral nutrition via tube feeding (2)[C]
• Pregnancy
• Medications
• Supplements
• Food allergies or intolerances
Physical Exam
• Breakdown of skin integrity
• Coarse or thinning hair
• Reduced visual acuity
• Beefy red tongue
• Angular cheilitis (perleche)
• Poor dentition and gingivitis
• Cognitive impairment
• Bruising and/or petechiae
• Sensory and motor neuropathies
• Ataxic gait
TESTS
• CBC
• If clinical characteristics are present, consider
- Prothrombin and partial thromboplastin times
- Vitamin B12 and folate levels
- Consider serum homocysteine level if suspect vitamin B12, folate deficiency, and normal serum levels (3)[C]
• Specific vitamin level of choice
Lab
Ancillary tests include
• Blood urea nitrogen
• Albumin
• Pre-albumin
• Calcium
• Phosphorous
• Magnesium
• Liver function tests
Imaging
• X-ray of long bones and spine
• Bone densitometry: Indicated in
- Women over age 65 years
- Patients with chronic disease requiring long-standing steroids or immunosuppressants
- Patients on thyroid medicine
- Patients on antiepileptic drugs
Pathological Findings
• Rickets/Osteomalacia
- Osteoid demineralization
- Osteoporosis
• Scurvy
- Ecchymoses
- Bleeding gums
• Beriberi
- Muscle wasting
- Neuropathy
- CHF
• Korsakoff syndrome
- Confabulation
- Memory disturbance
• Wernicke encephalopathy: Cognitive impairment
• Macular degeneration: Decreased visual acuity
• Pellagra
- Dermatitis
- Diarrhea
- Dementia
- Death
• Pernicious anemia
- Subacute combined degeneration
- Gait disturbance
- Cognitive impairment
- Alopecia
ALERT
Pediatric Considerations
• Hemorrhagic disease of the newborn
- Deficiency of vitamin K is seen in neonates as they require 1 week of life to establish their intestinal flora (intestinal bacteria manufacture vitamin K) and as breast milk is a poor source of vitamin K.
- Peaks 2-10 days after birth. Presents with bleeding from the umbilical stump and/or circumcision site along with generalized bruising and gastrointestinal hemorrhage. Routine injection of newborns with vitamin K (1 mg) prevents hemorrhagic disease.
• Vitamin D deficiency: Vitamin D supplementation (200 IU/day) is recommended in all exclusively breast-fed infants for the 1st 2 months of life (AAP recommendations) to prevent rickets.
• Many vitamin deficiencies lead to developmental delay in children.
• Supplemental vitamins in otherwise healthy children, although encouraged, are not mandated by medical authorities.
Pregnancy Considerations
Folate deficiency
- All pregnant women, and women of childbearing age considering pregnancy, should be strongly encouraged to take a multivitamin containing 0.8 mg of folic acid daily.
Geriatric Considerations
• Vitamin B12 deficiency: 25% of the general population age 65 and older has borderline or low levels of vitamin B12 necessitating supplementation. Method of administration for maximum B12 absorption is via sublingual route.
• Concurrent deficiency of other B vitamins often co-exists.
DIFFERENTIAL DIAGNOSIS
Many medical conditions may lead to symptoms and signs that mimic vitamin deficiencies, including
• Diabetes mellitus types 1 and 2
• Hyperparathyroidism
• Thyroid disorders
• Alzheimer disease
• Multiple sclerosis
• Substance abuse
• Toxic ingestion/overdose
• Hematologic malignancies/disorders
TREATMENT
PRE-HOSPITAL
• Obtain prior medical records
• Nutrition history focusing on any food allergies, aversions, or intolerances
STABILIZATION
Provide daily B-vitamin complex (folate, B6, B12), including thiamine supplementation (dose = 100 mg) via oral or parenteral route, to all patients with chronic medical conditions admitted to hospital or in postoperative state. (4)[B], (5)[C], (6)[A]
GENERAL MEASURES
Diet
• Obtain dietetics/nutrition consult.
• Monitor nutrient intake.
• Tailor diet to underlying chronic medical condition, such as
- Diabetes: Carbohydrate counting required
- Hypertension: DASH diet
- Obesity: Calorie-controlled diet
- Chronic kidney disease: Appropriate protein intake and balanced diet
- Congestive heart failure: Low-salt, free-water restricted diet
- Inflammatory bowel disease: Low-residue diet
- Osteoporosis: Calcium-laden diet
• Supplemental enteral nutrition (i.e., Ensure, Boost, Sustacal, etc.) if anorexic or if difficulty eating solids
MEDICATION (DRUGS)
• The abundance of multivitamin formulations makes it very difficult for the medical provider to advise use or avoidance of each product.
• Encourage patients to bring in multivitamin bottle for personal review by a physician or knowledgeable health care practitioner or pharmacist.
FOLLOW-UP
PROGNOSIS
• Most vitamin deficiencies are fully reversible if treated without undue delay.
• Vitamin repletion or supplementation may be required short term (3 months) or long term (>3 months) dependent upon cause of deficiency
COMPLICATIONS
Vitamin toxicities
• Liver failure (vitamins A, D, E, K)
• Desquamation of skin (vitamin A)
• Kidney stones (vitamin C)
• Hypercoagulability (vitamin K)
• Facial flushing (vitamin B3)
• Pseudohyperparathyroidism (vitamin D)
• Masking of pernicious anemia (folic acid) NOTE: Any vitamin can be taken to excess; refer to the Recommended Dietary Allowance (RDA) for specific intake guidelines.
PATIENT MONITORING
• Symptomatic observation needed in majority of cases
• Semi-annual to annual monitoring of pertinent lab tests, as needed
REFERENCES
1. Van Wayenburg CAM, et al. Nutritional deficiency in Dutch primary care: Data from general practice research and registration networks. Clin Nutr. 2005;59(suppl):187-194.
2. Skelton JA, Havens PL, Werlin SL. Nutrient deficiencies in tube-fed children. Clin Pediatrics. 2006;45:37-41.
3. Hankey GJ. Is plasma homocysteine a modifiable risk factor for stroke? Nat Clin Pract Neurol. 2006;2:26-33.
4. Thomson AD, Marshall EJ. The treatment of patients at risk of developing Wernicke's encephalopathy in the community. Alcohol Alcoholism. 2006;41:159-167.
5. Parsons JP, Marsh CB, Mastronade JG. Wernicke's encephalopathy in a patient after gastric bypass surgery. Chest. 2005;128(suppl):453-454.
6. Jacques JND. Nutritional implications of weight loss surgery. Nutrition  the MD. 2005;31:1-6.


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