The Gaucher disease is represented mainly by the accumulation of fat in the organs, especially spleen, liver, bone marrow, bones and brain. The accumulation of these fat deposits lead to lower operating capacity of these structures, some being very serious damaged.

What is Gaucher disease? - Gaucher disease is the accumulation of fat especially in internal organs. This accumulation of fat is somewhat specific, in the sense that patients do not accumulate any kind of fat, but only a particular type: glucocerebrosidase. They accumulate in deposits that the person presents a deficiency of the enzyme to metabolize these fats.

What are Gaucher disease symptoms? - Gaucher disease symptoms vary depending on each person, which organs are affected, the degree of impairment of their age, etc. Thus, the events keep the damage to the liver, bone marrow and bone, brain, kidney even: - Anemia due to marrow and spleen damage that destroys red blood cells; - Predisposition to bleeding and bruising of the skin (bruises) due to the decrease in the number of platelets, blood components that occur in repairing broken vessels; - Skeletal abnormalities and frequent fractures, bone pain, change in position;

- Disorders of nerve function that can lead to deep behavioral disorders, including retardation; - Hepatomegaly (liver volume increase) and splenomegaly (spleen volume increase) or both (hepatosplenomegaly); - Yellow fat in the eye and abnormal eye movements (by affecting the optic nerve); - Renal Dysfunction but other organs (e.g. lungs); - Brown staining of the skin (jaundice staining liver damage).

What causes this disease? - The causes are mainly genetic. The Gaucher disease is a genetic disease with autosomal recessive transmission (is transmitted from parents to children, but the disease manifestation skip generation, for example grandparents have the gene, a forward and children, but grandchildren have the disease). Is most common in Jews of Central and Eastern Europe. Both parents must be carriers of the gene that produces the enzyme deficiency.

Types of Gaucher disease - Classification is done on several criteria, depending on age and affected organs.

Type 1 - This form does not affect the brain. The disease may occur at any age but is most common between 19-25 years. Manifestations are progressive and the disease can be kept under control if diagnosed early and treatment begins on time.

Type 2 - Type 2 is very rare and is manifested in infants in the first three months after birth. Presents serious liver diseases, spleen, marrow, brain. The disease evolves quickly and aggressively.

Type 3 - It is also rare and occurs in childhood or adolescence. Is less aggressive than type 2 and evolves more slowly, and affects the brain.

How is the disease diagnosed? - The doctor discussed with the patient and if there is suspicion of this disease, the doctor will take some blood tests to reveal the glucocerebrosidase enzyme dosage. Then investigations are pointing to this disease in the family. The diagnosis of Gaucher disease is made with imaging analysis that shows whether or not an enlarged liver, spleen, marrow and bone density and the doctor must also monitor the developments.