How to Find Gaucher Patients More Effectively - An Experience of One Haematooncology Department in Poland

Letter to the Editor

J Blood Disord. 2014;1(4): 1019.

How to Find Gaucher Patients More Effectively - An Experience of One Haematooncology Department in Poland

Sokolowska B*

Hematooncology Department, Medical University of Lublin, Poland

*Corresponding author: Sokolowska B, Hematology Department, Medical University of Lublin, 20-081 Lublin, Staszica 11, Poland.

Received: December 26, 2014; Accepted: December 29, 2014; Published: December 31, 2014


In this letter the author would like to share her experience concerning diagnostics of Gaucher Disease in Haematooncology Department of Medical University of Lublin in Poland.

Keywords: Gaucher disease; Diagnostics; DBS test


GD: Gaucher Disease; DBS: Dried Blood Spot; GBA: Glucocerebrosidase; ERT: Enzyme Replacement Therapy; SRT: Substrate Reducing Therapy; MCV: Mean Corpuscular Volume; Hb: Hemoglobin; G/L: Giga/Liter; hr: hour; g: gram; mg: milligram; nmol: nanomol; pmol: picomol; dL: deciliter; fL: femtoliter

Letter to the Editor

Gaucher Disease (GD) is a progressive macrophage lipidosis caused by an autosomal recessive deficiency of lysosomal acid β glucosidase (glucocerebrosidase, GBA). Three major subtypes of GD have been described based on the absence (type 1) or presence (types 2 and 3) of neurological symptoms. The vast majorities of patients exhibit the non-neuronopathic, or type 1 form of the disease. Gaucher disease type 1 occurs in all ethnic groups, but it is the most common among people of Ashkenazi Jewish ancestry, with the prevalence of 1 in 450 compared to 1 in 40 000-60 000 in non-Jewish populations [1,2]. Enzyme replacement therapy was introduced in Poland in 1995. At that time this therapy was provided by the Institute of Pediatrics at Children's Health Center in Warsaw. Since 2009 the treatment of GD has been managed according to Therapeutic Health Program Treatment of Gaucher disease financed by The National Health Fund. A patient with newly diagnosed Gaucher disease is evaluated in hospital which is provided Therapeutic Program. Then all data concerning this patient is sent to Commission for Rare Disorders. This authority body approves the patient for the treatment. Finally the patient is treated in hospital in which he was previously evaluated. There are some guidelines regarding the treatment and evaluation of patients with GD. About 60 patients with GD are currently treated in Poland. It means that the number of GD patients is approximately 60. According to the prevalence of GD, estimated number of GD patients in our population should be 200. Conclusion: Gaucher disease is under diagnosed in our country. What is the reason for this situation?

In the era prior to the introduction of Enzyme Replacement Therapy (ERT) hematologists were generally physicians who treated patients with GD due to hematological symptoms like: thrombocytopenia, anemia, leukopenia and hepatosplenomagaly.

Nowadays hematologists remain at the forefront of specialists who patients with GD are referred to because of symptoms mentioned above.

However, most hematologists lack familiarity with recognition and management of GD mainly due to rare occurrence of the disease. It is believed that there is no chance of encountering such patients throughout an entire medical practice. Such beliefs contribute to diagnostic delays leading to severe complications that could have been prevented or reversed by appropriate therapy. We recorded the first GD patient in our center in 2003 [3]. A 43-years-old male was diagnosed because of moderate hepatosplenomegaly. The patient had complained of weakness and yellowish skin color for two years. Laboratory data revealed thrombocytopenia (platelet count 108G/L) and slightly elevated bilirubin level (1.68mg/dL). Gaucher cells were found in the bone marrow (Figures 1 & 2) as well as in the liver biopsy specimen.

Citation: Sokolowska B. How to Find Gaucher Patients More Effectively - An Experience of One Haematooncology Department in Poland. J Blood Disord. 2014;1(4): 1019. ISSN 2379-8009