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Boletín médico del Hospital Infantil de México
Print version ISSN 1665-1146
Abstract
NUNEZ-MARTINEZ, Paulina M. et al. Familial erythrocytosis 2 and von Hippel-Lindau disease in the same pediatric patient. Bol. Med. Hosp. Infant. Mex. [online]. 2021, vol.78, n.4, pp.341-345. Epub Aug 23, 2021. ISSN 1665-1146. https://doi.org/10.24875/bmhim.20000129.
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.
Keywords : von Hippel-Lindau Disease; Chuvash polycythemia; VHL gene; Hereditary cancer syndrome; Familial erythrocytosis type 2; Polyglobulia.