Epidemiology & Risk Factors

  • Definition: Peripheral venous hematocrit (Hct) > 65% or Hb > 22 g/dL.
  • Pathophysiologic Mechanisms:
    • Increased Erythropoiesis (Chronic Intrauterine Hypoxia):
      • Maternal conditions: Maternal DM (↑ fetal O2 consumption), preeclampsia/maternal HTN, maternal smoking.
      • Fetal/Placental conditions: SGA / IUGR, LGA, placental insufficiency, post-term gestation (> 42 weeks).
      • Genetic/Endocrine: Trisomy 13, 18, 21; Beckwith-Wiedemann syndrome; congenital adrenal hyperplasia (CAH); neonatal thyrotoxicosis.
    • Erythrocyte Transfusion (Passive/Excess Volume):
      • Delayed umbilical cord clamping (> 2–3 min).
      • Twin-twin transfusion syndrome (TTTS) (recipient twin).
      • Maternal-fetal hemorrhage.

Clinical Features

  • Often asymptomatic.
  • Derm: Plethora (“ruddy” complexion), cyanosis.
  • CNS: Lethargy, irritability, jitteriness, poor feeding, seizures.
  • Cardiopulmonary/GI: Tachypnea, respiratory distress, abdominal distension/vomiting.

Diagnosis

  • Initial / Screening: Capillary heel stick (high sensitivity, frequent false positives due to stasis/poor peripheral perfusion).
  • Confirmatory / Gold Standard: Peripheral venous blood draw (must confirm any capillary Hct > 65%).
  • Key Labs:
    • Glucose: Screen for hypoglycemia (↑ consumption by RBC mass).
    • Bilirubin: Screen for hyperbilirubinemia (↑ RBC breakdown).
    • Ca2+: Screen for hypocalcemia (common in IDM).

Differential Diagnostics

  • Neonatal Sepsis: Diff by fever/hypothermia, ↑ inflammatory markers, positive cultures, normal Hct.
  • Dehydration: Diff by excessive weight loss (> 10%), ↑ Na+/BUN, normalizes rapidly with IVF.
  • Cyanotic CHD: Diff by failed hyperoxia test, cardiac murmur/abnormal echo, normal Hct.

Management

  • Asymptomatic:
    • Hct 65%–75%: IV hydration or increased feeds; monitor glucose/Hct q4–6h.
    • Hct > 75%: Consider PET to prevent thrombotic events.
  • Symptomatic (Venous Hct > 65%):
    • First-line / Definitive: Partial Exchange Transfusion (PET) with 0.9% NS (goal: Hct < 55%).
  • Supportive: IV dextrose (for hypoglycemia), phototherapy (for hyperbilirubinemia).

Complications

  • GI: Necrotizing enterocolitis (NEC) (mesenteric sludging/ischemia).
  • Renal: Renal vein thrombosis (RVT) (hematuria, flank mass, thrombocytopenia).
  • Metabolic/CNS: Refractory hypoglycemia, seizures, stroke, kernicterus.