Vitamin Deficiency Disease

DESCRIPTION

Vitamin deficiency syndromes develop slowly and are difficult to diagnose. Vitamins can not be synthesized by humans and therefore must be supplied by diet vitamins are required for maintenance of optimal health and prevention of chronic diseases. Multiple deficiencies of vitamins occur more frequently than a deficiency in a single vitamin. Vitamin classification follows:

Fat-soluble
- Vitamin A (retinol)
- Vitamin D (vitamin D2 = ergocalciferol; vitamin D3 = cholecalciferol)
- Vitamin E
- Vitamin K (K1 = phytomenadione; K2 = menaquinone; K3 = menadione)
Water-soluble
- Vitamin B1 (thiamine)
- Vitamin B2 (riboflavin)
- Vitamin B3 (niacin, nicotinic acid, niacinamide)
- Vitamin B6 (pyridoxine)
- Vitamin B12 (cobalamin)
- Vitamin C (ascorbic acid)
System(s) affected: Endocrine/Metabolic
Genetics:
- Hereditary vitamin D-dependent rickets - autosomal recessive syndrome
- Thiamine-dependent beriberi - rare hereditary metabolic disorder
- Pernicious anemia
Incidence/Prevalence in USA: Unknown
Predominant age: Elderly
Predominant sex: Male = Female

SIGNS AND SYMPTOMS

Vitamin A (retinol)
- Early - dryness of conjunctiva (xerosis)
- Bitot's spots (small white spots on conjunctiva)
- Loss of appetite, growth retardation, and anemia commonly found in children
- Late - keratomalacia (ulceration & necrosis of cornea), endophthalmitis, blindness
Vitamin B1 (thiamine)
- Infantile beriberi - occurs in infants breast-fed by thiamine-deficient mothers
- "Wet beriberi" - cardiovascular symptoms: peripheral vasodilation, high output failure, dyspnea, tachycardia
- "Dry beriberi" - neurological symptoms: symmetrical motor and sensory peripheral neuropathy, paresthesias, loss of reflexes
- Wernicke's encephalopathy - nystagmus, ophthalmoplegia, truncal ataxia, confusion
- Korsakoff syndrome - amnesia, impaired learning, confabulation
Vitamin B3 (niacin [nicotinic acid, niacinamide])
- Anorexia, weakness, irritability, mouth soreness, glossitis, stomatitis, weight loss
- Dermatitis - symmetrical in sun-exposed areas, skin is dry, dark, and scaly
- Dementia, insomnia, irritability, apathy, confusion, memory loss, psychosis, hallucination
- Diarrhea
- Death
Vitamin B12 (cobalamin)
- Anorexia, diarrhea, glossitis
- Peripheral nerves - paresthesias
- Posterior column - difficulty with balance
- Confusion, memory loss, disorientation
- Dementia
Vitamin C (ascorbic acid)
- Scurvy - develops in children between 6-24 months
- Early - weakness, malaise
- Late - perifollicular hemorrhage and hyperkeratotic papules, petechia, purpura, splinter hemorrhages, bleeding gums, hematomas, subperiosteal hemorrhages
- Terminal - edema, oliguria, neuropathy, intracranial hemorrhage, death
Vitamin E (alpha-tocopherol)
- RBC hemolysis, creatinuria, ceroid deposition in muscle
- Areflexia, gait disturbances, ophthalmoplegia
Vitamin K (K1 - phytomenadione; K2 - menaquinone; K3 - menadione)
- Early - hemolytic disease of newborn (HDN) seen within first 24 hours of birth
- Classic - seen within 7-14 days of birth: bleeding from skin, gut, circumcision site
- Late - seen 2-12 weeks after birth: intracranial hemorrhage

CAUSES

Inadequate dietary intake
Impaired absorption or storage

RISK FACTORS

Social and psychological - social isolation, depression, alcohol abuse, elder abuse and neglect, institutionalization, poverty, inadequate assistance with eating, eating disorders (anorexia/bulimia), loss of spouse or caretaker
Physical - chronic disease (eg cancer), poorly fitting/missing dentures, reduced calorie intake with advanced age, impaired mobility, memory and attention disorders, neurological impairment of chewing or swallowing
Others
- Parenteral nutrition, malabsorption, bile deficiency, dialysis, chronic protein-calorie undernutrition, drug interactions, infants, elderly, laxative abuse, genetic disorder (abetalipoproteinemia) (vitamin E), intestinal parasites, food faddism, gastrointestinal surgery
- Increased physiologic demands of pregnancy, hemolytic anemia, and exfoliative skin diseases

LABORATORY

Vitamin A - serum levels below normal
Vitamin B1 - elevated blood pyruvate
- Decreased urinary thiamin excretion
- Erythrocyte transketolase activity > 15-20%
Vitamin B2
- Erythrocyte glutathione reductase coefficient > 1.2 - 1.3
- Lower serum levels of plasma and red cell plasma
- Lower urinary excretion of riboflavin
Vitamin B3 (niacin)
- Lower levels of N-methylnicotinamide
- Lower levels of serum and red cell NAD and NADP
Vitamin B6 - lower levels of pyridoxal in blood (normal - 50 ng/ml)
Vitamin B12
- Serum levels < 150 pg/ml
- MCV 110-140 fl, ovalocytes, hypersegmented neutrophils, decreased reticulocyte count, pancytopenia
- Bone marrow - erythroid hyperplasia
- Increased LDH - increased indirect bilirubin
- Schilling test
Vitamin C - levels < 0.1 mg/dl
Vitamin D - plasma calcium level < 7.5 mg/dL (1.88 mmol/L); low plasma vitamin D sterols; inorganic phosphate serum levels < 3 mg/dL (0.97 mmol/L); serum citrate levels, 2.5 mg/dL; alkaline phosphate < 4 Bodansky units/100 mL
Vitamin E - serum levels < 0.8 mg/dL (18.5 µmol/L) (adults)
Vitamin K - prothrombin time 25% longer than normal range (diagnostic for vitamin deficiency after ruling out other disorders), PIUKA II test

Drugs that may alter lab results: Refer to laboratory test reference
Disorders that may alter lab results: Refer to laboratory test reference

PATHOLOGICAL FINDINGS

N/A

SPECIAL TESTS

N/A

IMAGING

N/A

DIAGNOSTIC PROCEDURES

History and physical

APPROPRIATE HEALTH CARE

Outpatient usually. Inpatient in severe cases.

GENERAL MEASURES

Treatment of any underlying causes
Oral or parenteral vitamin therapeutic replacement
Maintenance vitamin supplement as required
For vitamin D deficiency - adequate exposure to sunlight

SURGICAL MEASURES

N/A

ACTIVITY

As tolerated

DIET

For dietary deficiencies - provide nutritional counseling with emphasis on appropriate foods and the proper methods for their preparation
Abstain from alcohol

PATIENT EDUCATION

Refer patients to appropriate social service agencies if socioeconomic factors contribute to deficient diet
Emphasis on compliance with vitamin supplementation regimens
Help with alcohol or smoking cessation

PREVENTION/AVOIDANCE

Proper nutrition
Supplemental vitamins if needed
Reduce risk factors that lead to deficiency where possible
Vitamin D deficiency - adequate exposure to sunlight (30 minutes several times a week)
Postoperative vitamin K for patients who are NPO
Neonates - should receive vitamin K1 IM, subcutaneously, or orally to prevent hemolytic disease of the newborn

POSSIBLE COMPLICATIONS

Vitamin A deficiency - mortality high in advanced cases; eye lesions are a threat to vision
Vitamin B1 (thiamine) deficiency - cardiac beriberi and Wernicke-Korsakoff syndrome may be fatal if left untreated
Vitamin B6 chronic deficiency - may increase risk of kidney stone formation
Vitamin D deficiency - skeletal deformities, greenstick fractures, bone pain
Excessive synthetic vitamin K may lead to hemolytic anemia and kernicterus in infants

EXPECTED COURSE AND PROGNOSIS

With proper diagnosis and adequate therapy, expect full recovery without complications

ASSOCIATED CONDITIONS

N/A

AGE-RELATED FACTORS

Pediatric:

Vitamin D deficiency rickets is now rare in the U.S., but may occur in breast-fed infants who do not receive a vitamin D supplement, or in infants fed a formula with a non-fortified milk base
Vitamin E deficiency in infants usually results from formulas high in polyunsaturated fatty acids that are fortified with iron but not vitamin E
Vitamin E - seen with severe malabsorption, genetic disorder of abetalipoproteinemias, children with cholestatic liver disease, biliary atresia, or cystic fibrosis
Vitamin K deficiency - common among newborns

Geriatric: More likely to have multiple risk factors that can lead to vitamin deficiencies
Others: N/A

PREGNANCY

Women should take a supplemental multivitamin tablet that contains at least 60 mg of elemental iron and 1.0 mg of folic acid

OTHER NOTES

Alcohol withdrawal - initial therapy of alcohol withdrawal should include B vitamins, especially thiamine to avoid causing neurological complications

ABBREVIATIONS

N/A

Clinical Investigations

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