Variant analysis and biochemical investigation in two siblings with late onset idiopathic secondary erythrocytosis: A case report.

ABSTRACT:

Rationale

The potential etiological factors for acquired secondary erythrocytosis (SE) include sleep apnea, smoking, and renal cysts. However, there is limited evidence to consistently support an association between these factors and SE. Additionally, identifying the genetic variants underlying SE requires specific and expensive testing methods. These diagnostic challenges mean that many cases of SE are classified as idiopathic, which complicates the development of tailored diagnostic and therapeutic strategies.

Patient concerns

This study examined 2 brothers (brother I [BI] and brother II [BII]) with idiopathic SE who were undergoing monthly phlebotomy.

Diagnoses

A diagnosis of polycythemia vera or other acquired causes, such as pulmonary disease or malignancy, was e

SUBMITTER: Cusenza VY 

PROVIDER: S-EPMC12727392 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature