Gaucher disease: The importance of early diagnosis and therapy

Abstract

Gaucher disease is the most common lysosomal storage disorder caused by deficiency of the lysosomal enzyme glucocerebrosidase. By the end of 2006, the total enrollment in the international Gaucher Disease Registry included 4584 patients, 34 of them were Hungarian. The disease has three main types: non neuropathic (Type 1), acute neuropathic (Type 2), and chronic neuropathic (Type 3). The non-neuropathic type has the highest prevalence and also the greatest variability. The first symptoms occur before 10 years of age in more than 50% of the patients. Early onset of the clinical symptoms and signs predispose patients to severe phenotype and irreversible complications. Safe and efficient enzyme substitution therapy has been available from 1991 and applied since 1992 in Hungary. Optimal dose and early therapy are effective in stopping disease progression, leading to the regression of visceral and haematological abnormalities, preventing irreversible bone deformities, and providing a better quality of life. The authors present here three patients with Gaucher disease diagnosed in early childhood. They highlight the importance of early diagnosis and treatment before the development of severe co-morbidities or irreversible complications. They also analyse the challenges for pediatricians in establishing correct diagnosis of Gaucher disease in time.

A Deep-Learning Approach to Spleen Volume Estimation in Patients with Gaucher Disease

“…This is very important in the early stages of the disease. According to Simon et al [ 53 ], the first symptoms of the disease occur before 10 years of age in at least 50% of the patients. An early diagnosis of the disease is effective in stopping the disease progression, leads to the regression of abnormalities, prevents irreversible bone deformities, and improves quality of life.…”

A thrombocytopenia ritka oka: Gaucher-kór

“…A Gaucher-kór a leggyakrabban előforduló hereditaer lyso somalis tárolási betegség, melynek hátterében a β-glucocerebrosidase nevű enzim hiánya áll, ennek mé résén alapul a diagnózis is. A betegség autoszomális recesszív öröklődésű (GBA gén, I. kromoszóma housekeeping gén defektusa) [1]. A betegséget első leírójáról a francia bőrgyógyász és patológus Phillipe Gaucher-ról nevezték el, aki 1882-ben írta le egy 32 éves nő esete kapcsán [2].…”

“…A 12 csontvelőűrnyi mintában kb. 35%-ban hypercellularis haemopoetikus zónák voltak láthatóak, kiérő granulo- Magyarországon korábbi adatok szerint 34 a felismert Gaucher-kóros betegek száma [1]. A várható prevalenciával szemben a betegség jelentősen aluldiagnosztizált annak elle nére, hogy Magyarországon újszülöttkorban a legtöbb gyermeket már szűrik e ritka betegségre, valamint folyamatos konzultációs lehetőség is rendelkezésre áll telefonon és e-mail-ben (telefon: +36 30 572 7668; e-mail: orvos@gaucherkor.hu).…”

Gaucher′s disease with uncommon presentations

“…Therefore, it is very important to diagnose the disease early so as to give the best treatment and prevent further progress of the disease, as early onset of clinical symptoms and signs predispose patients to severe phenotype with irreversible complications. [3] Here we have reported two cases with unusual presentations—case 1 was nonneuropathic (type 1), which has the highest prevalence and also the greatest variability. [3] The signs and symptoms of type 1 disease demonstrated marked heterogeneity.…”

“…[3] Here we have reported two cases with unusual presentations—case 1 was nonneuropathic (type 1), which has the highest prevalence and also the greatest variability. [3] The signs and symptoms of type 1 disease demonstrated marked heterogeneity. [4]…”