Vitamin A (Retinol) Deficiency and Excess
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Vitamin A (Retinol) Deficiency and Excess

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Summary

Vitamin A (Retinol) imbalances include syndromes of deficiency and excess.

Vitamin A deficiency has a number of characteristic clinical findings, including night blindness (nyctalopia), bitot spots, dry scaly skin (xerosis cutis), and keratomalacia (corneal liquefaction).

Vitamin A excess is more common than deficiency, and chronic hypervitaminosis A is characterized by dry skin, joint pain, pseudotumor cerebri, and hepatomegaly. Acute vitamin A toxicity presents with nausea/vomiting and vertigo. Crucially, vitamin A is teratogenogenic, and prescription of retinol-containing drugs should be carefully considered in sexually-active and pregnant women.

Key Points

  • Vitamin A (Retinol) Deficiency
    • Usually due to fat malabsorption
      • pancreatic insufficiency (e.g. cystic fibrosis), biliary obstruction, or small-bowel resection are potential causes
    • Clinical Presentation (“skin and eyes”)
      • Night blindness (nyctalopia)
      • Corneal degeneration (keratomalacia) = liquefaction of cornea
      • Bitot spots (foamy spots) on conjunctiva
        • formed by squamous metaplasia
      • dry, scaly skin (xerosis cutis)
        • via follicular hyperkeratosis and loss of sebaceous gland function
      • Immunosuppression
        • T-cells need Vitamin A for normal maturation
  • Vitamin A (Retinol) Excess
    • Classically in young women taking isotretinoin (vitamin A derivative) for acne
    • Acute hypervitaminosis A (low-yield)
      • nausea, vomiting, vertigo, and blurred vision
    • Chronic hypervitaminosis A
      • Pseudotumor cerebri/idiopathic intracranial hypertension (IIH)
        • headache and papilledema
      • Hepatomegaly/hepatotoxicity
      • Dry skin/skin changes
      • Alopecia, hyperlipidemia, and joint pain (arthralgias) may be seen
    • Teratogenic (high-yield**)
      • ⊝ pregnancy test and two forms of contraception are required before isotretinoin is prescribed
      • Potential effects include craniofacial abnormalities (cleft palate), cardiac abnormalities (transposition of great vessels, tetralogy of fallot),posterior fossa CNS defects, and auditory defects


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