Epistaxis

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.