AI Article Synopsis
- Patients with familial erythrocytosis type 2 are not at a higher risk for tumors associated with von Hippel-Lindau (VHL) disease, despite mutations in the VHL gene being common in both conditions.
- A unique case is presented of a patient who has both von Hippel-Lindau disease and familial erythrocytosis type 2, highlighting a rare mutation in the VHL gene that has not been previously documented.
- It’s important for healthcare providers to consider the potential coexistence of these two conditions to avoid unnecessary procedures and ensure proper monitoring of both diseases.
Article Abstract
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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| http://dx.doi.org/10.24875/BMHIM.20000129 | DOI Listing |
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