Boletín Médico del Hospital Infantil de México (Oct 2021)

Familial erythrocytosis 2 and von Hippel-Lindau disease in the same pediatric patient

  • Paulina M. Núñez-Martínez,
  • Lucía Taja-Chayeb,
  • Miguel A. Ramírez-Otero,
  • Verónica Fragoso-Ontiveros,
  • Talia Wegman-Ostrosky,
  • David Cruz-Robles,
  • Silvia Vidal-Millán

DOI
https://doi.org/10.24875/BMHIM.20000129
Journal volume & issue
Vol. 78, no. 4

Abstract

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Background: Patients with familial erythrocytosis type 2 have no increased risk of von Hippel-Lindau-associated tumors, although mutations in the VHL gene cause both pathologies. Case report: We present a case of a compound heterozygote patient with von Hippel-Lindau disease and familial erythrocytosis type 2. One of the mutations found in our patient, c.416C>G (p.Ser139Cys) of the VHL gene, has not been previously reported. This case is the second one reported where von Hippel-Lindau disease and familial erythrocytosis type 2 coexist in the same individual. Conclusions: Despite the low frequency of familial erythrocytosis type 2 in patients with von Hippel-Lindau disease, the possibility of this diagnosis should be considered to avoid unnecessary invasive studies to explain the polyglobulia in these patients and guarantee an adequate follow-up and vigilance of both diseases.

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