Pol. Merkur. Lek (Pol. Med. J.), 2016, XLI/241: 032-034 Maximize

Pol. Merkur. Lek (Pol. Med. J.), 2016, XLI/241: 032-034

Title: Late diagnosis of Gaucher’s disease – care reports 

Authors: Dyczko M, Grzywa-Celińska A, Barud W, Celiński R, Dworzański W, Szmygin-Milanowska K, Mosiewicz J. 

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Late diagnosis of Gaucher’s disease – care reports

Dyczko M1, Grzywa-Celińska A2, Barud W1, Celiński R3, Dworzański W3, Szmygin-Milanowska K2, Mosiewicz J1.

Medical University of Lublin, Poland: 1Chair and Department of Internal Diseases; 2Chair and Department of Pneumonology, Oncology and Allergology; 3Cardiology Unit with Cardiac Intensive Care Unit, Regional Specialist Hospital in Lublin, Poland

Gaucher’s disease if one of the most frequent, among extremely rare, lysosomal storage diseases. It is the autosomal recessive inherited metabolic disorder, which can present in three main clinical forms. Type 1 – the most benign, in a not-neuropathic form, and types 2 and 3, both in neuropathic form, which manifest serious neurological symptoms.
The aim of the study
was to draw attention to the late diagnosing of Gaucher’s disease in the Polish population and to popularize the knowledge about this ultra-rare disease.
Case reports
. Having analyzed the cases of our patients, we have concluded that the diagnosis of Gaucher’s disease type 1 is often made with a time delay of up to several years. The lack of deeper knowledge about the disease and its symptoms among the physicians was found a main reason for this time lag. The disease is usually not taken into consideration in difference diagnosis due to its “ultra-rare” character. Furthermore, the course of the disease is usually occult with no spectacular symptoms, whereas the frequently occurring chronic weakness and bone pains are not treated as serious pathology.
. Early diagnosis of the Gaucher’s disease gives patients the chance of an appropriate, effective substitutive therapy, as well as recovery of organ disturbances.

Key words: Gaucher’s disease, lysosomal storage diseases, diagnosis

Pol Med J, 2016; XLI (241); 32–34