Familial erythrocytosis
ICD-10 D75.0 is a billable code used to indicate a diagnosis of familial erythrocytosis.
Familial erythrocytosis is a genetic condition characterized by an abnormal increase in red blood cell mass, leading to elevated hemoglobin and hematocrit levels. This condition is often inherited in an autosomal dominant pattern and is associated with mutations in genes that regulate erythropoiesis, such as the erythropoietin receptor (EPOR) or the hypoxia-inducible factor (HIF) pathway. Patients may present with symptoms related to increased blood viscosity, including headaches, dizziness, and a ruddy complexion. Familial erythrocytosis can be differentiated from secondary causes of erythrocytosis, such as chronic hypoxia or tumors producing erythropoietin, through genetic testing and family history. Management typically involves monitoring hemoglobin levels and may include therapeutic phlebotomy to reduce blood viscosity and prevent complications such as thrombosis. Understanding the genetic basis and clinical implications of familial erythrocytosis is crucial for accurate diagnosis and management.
Detailed family history, genetic test results, and clinical symptoms.
Patients presenting with elevated hemoglobin levels and a family history of erythrocytosis.
Ensure comprehensive documentation of all laboratory findings and management plans.
Genetic testing results and family pedigree charts.
Evaluation of patients with suspected hereditary erythrocytosis.
Accurate coding requires clear documentation of genetic counseling and testing.
Used to evaluate hemoglobin levels in suspected cases of erythrocytosis.
Document the reason for the CBC and any relevant clinical findings.
Hematologists should ensure that CBC results are interpreted in the context of family history.
Familial erythrocytosis is a genetic disorder characterized by an increase in red blood cell mass, often due to inherited mutations affecting erythropoiesis.
Diagnosis involves clinical evaluation, family history assessment, and genetic testing to confirm mutations associated with the condition.
