Early diagnosis of Gaucher disease in pediatric patients: Proposal for a diagnostic algorithm

Abstract

Gaucher disease (GD) is caused by an enzyme deficiency that leads to the accumulation of glycolipids in various organs. Although the signs and symptoms of GD emerge in childhood in the majority of patients, the disease often remains unrecognized for many years with delay of benefits of therapy or development of irreversible complications. Based on published data and data from the International Collaborative Gaucher Group Registry, an algorithm has been drafted for early diagnosis of GD in pediatric patients. It will help hematologists in promoting a timely diagnosis and early access to therapy for pediatric patients with GD.

Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative

“…A GD diagnosis is confirmed with enzymatic and/or blood‐based genetic tests, but awareness among non‐specialists of available diagnostic services and regional differences in availability and in cost generally exclude GD testing from routine bloodwork. Algorithms have been developed to promote timely diagnosis of GD but they are typically aimed at specialists . There is no consensus or guideline for identifying patients who may have early‐stage GD that is suited to non‐GD specialists.…”

“…Algorithms have been developed to promote timely diagnosis of GD but they are typically aimed at specialists. 13,14 There is no consensus or guideline for identifying patients who may have early-stage GD that is suited to non-GD specialists.…”

Demographic, Clinical and Genetic Characteristics of Child Gaucher Disease Patients in Russia: Pediatric Register Data

“…Высокая частота постановки ошибочных диагнозов и манипуляций на первичном этапе у специалистов различного профиля требует повышения информирован-ности о данной патологии у врачей. Основные клинико-лабораторные проявления болезни Гоше у детей в РФ соответствовали общеизвестным данным [13][14][15]. Знание таких диагностических критериев заболевания, как сплено-и гепатомегалия, анемия и тромбоцитопения, может помочь в своевременной постановке диагноза [14].…”

“…Основные клинико-лабораторные проявления болезни Гоше у детей в РФ соответствовали общеизвестным данным [13][14][15]. Знание таких диагностических критериев заболевания, как сплено-и гепатомегалия, анемия и тромбоцитопения, может помочь в своевременной постановке диагноза [14]. Наличие у ряда пациентов с болезнью Гоше спленэктомии в анамнезе было связано с ошибками диагностики и отсутствием эффективного лечения на момент выявления симптоматики.…”

Clinical Utility of Bone Marrow Study in Gaucher Disease: A Case Report of Gaucher Disease Type 3 With Intractable Myoclonic Seizures

“…Owing to the phenotypic variability of GD, which might hinder prompt diagnosis or timely clinical impression, several guidelines for optimal diagnostic algorithm and evaluation steps have been suggested [ 4 5 ]. Regardless of GD subtypes, hepatosplenomegaly and thrombocytopenia were considered as the most common clinical features.…”