Harvey's Garden

Epistaxis

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Anterior epistaxis

  • Bleeding from the nostrils
    • Failure of anterior packing to control bleeding is highly suggestive of posterior epistaxis.
  • ∼ 90% of cases, mostly kids
  • Kiesselbach plexus

Posterior epistaxis

  • Bleeding through the posterior nasal aperture
    • Bleeding down the throat (no external signs of bleeding)
    • Hemoptysis, hematemesis, and/or melena may occur due to swallowing of large amounts of blood.
  • ∼ 10% of cases
  • May be life-threatening

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)

  • Patho/Etiology

    • Autosomal dominant disorder causing abnormal blood vessel formation (vascular dysplasia).
    • Mutations in genes like ENG or ACVRL1 disrupt the TGF-β signaling pathway, essential for vascular integrity.
    • Leads to thin-walled vessels and direct connections between arteries and veins (Arteriovenous Malformations - AVMs) without intervening capillaries.

  • Clinical Features

    • Also known as Osler-Weber-Rendu syndrome.
    • Spontaneous, recurrent epistaxis is the most common presenting symptom, often starting in childhood.
    • Mucocutaneous telangiectasias: small, red, blanchable lesions on lips, tongue, face, and fingers.
    • Visceral AVMs can affect lungs, brain, liver, and GI tract.
    • Symptoms of visceral involvement may include SOB, hemoptysis, headaches, seizures, or GI bleeding (often presenting as melena or iron deficiency anemia).

  • Dx

    • Based on the Curaçao criteria (definite diagnosis if ≥3 are present):
      1. Spontaneous, recurrent epistaxis.
      2. Multiple telangiectasias at characteristic sites (lips, oral cavity, fingers, nose).
      3. Visceral AVMs (pulmonary, hepatic, cerebral, spinal, or GI).
      4. First-degree relative with HHT.
    • Screening for visceral AVMs is crucial and may involve a bubble echo (for pulmonary AVMs), and CT/MRI of the abdomen and brain.
    • Genetic testing can confirm the diagnosis, especially in uncertain cases or for family screening.

  • Key Associations/Complications

    • Iron deficiency anemia from chronic blood loss is very common.
    • Pulmonary AVMs: Can lead to hypoxemia (due to right-to-left shunting) and are a major risk for paradoxical emboli, causing TIA/stroke or brain abscesses.
    • Cerebral AVMs: Risk of intracranial hemorrhage and seizures.
    • Hepatic AVMs: Can lead to high-output heart failure.
    • There is an increased risk of thrombosis, which can be exacerbated by iron deficiency.

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