Miguel Bronchud: Why Congenital Neutropenia Is Often Missed
Miguel Bronchud, Veteran Cancer Clinician and Researcher at Regenerative Medicine Solutions, Co-Founder and Former Advisory Board Member, shared a post on LinkedIn about a recent article by Karl Welte et al. published in BJHaem, adding:
“Neutropenia in Adults Caused by Germline Mutations– not always easy to diagnose?
Due to early initiation of treatment for congenital neutropenia (CN), patients experience a better life expectancy and reach adulthood.
These patients usually have good knowledge of their disorder and are familiar with a history of diagnostic procedures, germline mutations, risk of infectious episodes or haematological malignancies, necessity of therapy and surveillance.
Coordinated transition from paediatric to adult haematology is crucial for the continuation of surveillance in adult CN patients.
However, congenital conditions may sometimes be un-diagnosed, and patients may be referred to an adult haematologist for the first time.
The most common type of inborn neutropenia diagnosed in adulthood is cyclic neutropenia (CyN), caused by a mutation in the ELANE gene.
There are different possible reasons why CyN may not have been diagnosed during childhood.
In most cases, the rise in neutrophil counts following the nadir is misinterpreted as spontaneous recovery, and further monitoring is not performed.
In other patients with cyclic neutropenia, neutrophil counts at their nadir remain within a range in which infections occur only sporadically or rarely (above 0.5 × 109/L).
Sometimes, it is simply an inadequacy of the healthcare system that leads to delayed diagnosis.
In the European branch of the Severe Chronic Neutropenia International Registry (SCNIR-Europe), they currently oversee 458 patients with congenital persistent and cyclic neutropenia who are older than 18 years.
The most frequent neutropenia causing germline mutations are identified in the ELANE gene (163 pts) with cyclic or persistent neutropenia.
Other genes involved are HAX1 (41 pts), SBDS (59 pts), G6PT (25 pts), G6PC3 (9 pts), CXCR4 (7 pts), TAZ (6 pts), JAGN1 (5 pts) or others (e.g. WAS, LAMTOR2, CSF3R (together 33 pts)).
For some patients with suspected congenital neutropenia, no genetic cause of neutropenia was identified yet (unclassified neutropenia, 145 pts).”
Title: Diagnosis and management of neutropenia in adults: Expert guidance
Authors: Karl Welte, Cornelia Zeidler, Julia Skokowa, Sabine Mellor-Heineke, Audrey Anna Bolyard, David Dale
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