Disease to Gosha

Disease to Gosha – a genetic disease at which fat substances (lipids) collect in cells and on some bodies. The disease to Gosha is the most widespread of lysosomic diseases of accumulation. It is one of the sphingolipidosis forms (subgroup of lysosomic diseases of accumulation) as it is shown in dysfunctionality of metabolism of sphingolipids.

Frustration is characterized by fatigue, anemia, low level of thrombocytes in blood, increase in the sizes of a liver and spleen. It is caused by hereditary deficit of enzyme of a glyukotserebrozidaza which works on глюкозилцерамид fatty acids. When enzyme is damaged, глюкозилцерамид collects, in particular, in leukocytes, most often in macrophages (mononuclear leukocytes). Glyukoziltseramid can collect in a spleen, a liver, kidneys, lungs, a brain and marrow.

Increase in a spleen and liver, heavy neurologic complications, hypostasis of lymph nodes and adjacent joints, abdominal distention, brownish skin color, anemia, low level of thrombocytes in blood and scleras can be displays of a disease to Gosha.

The disease is caused by recessive mutation in the gene located on a chromosome 1 and influences both men, and women. About 1 of 100 people in the world is the disease carrier to Gosha. The disease is called in honor of the French doctor Philip to Gosha who originally described it in 1882.

Disease types to Gosha

The disease to Gosha has three general clinical subtypes: type I, type II and type III.

The type I is the most common form of a disease meeting with frequency of 1 on 50000 newborns. Disease symptoms to Gosha of this type can be shown at early age or at mature age and include:

• Increase in a liver and substantially increase in a spleen;
• Weakness of skeletal bones;
• Anemia, thrombocytopenia and leukopenia;
• Damage of kidneys;
• Fatigue.

The type II usually begins to be shown for the first six months since birth and meets frequency about 1 on 100000 newborns. Disease symptoms to Gosha of this type include:

• Increase in a liver and spleen;
• Extensive and progressive injuries of a brain;
• Disturbances of the movement of eyes, spasticity, spasms and rigidity of extremities;
• Weak ability to suck and swallow.

Injured children usually die at the age of 2 years.

The type III (chronic neyropatichesky form) can begin at any time, in the childhood or even at mature age, and meets frequency of 1 on 100000 newborns. The main symptoms include increase in a spleen or liver, a spasm, an incoordination, trouble breathing, skeletal disturbances, disturbances of the movement of eyes, blood diseases, including anemia.

Disease symptoms to Gosha

The general symptoms of a disease to Gosha are:

• The painless hepatomegalia and splenomegaly – the sizes of a spleen can be from 1500 to 3000 ml, unlike the normal size in 50-200 ml. The splenomegaly can reduce appetite, putting pressure upon a stomach, and expansion of a spleen increases risk of a rupture of a spleen;
• Hypersplenism and pancytopenia – bystry and premature destruction of blood cells that leads to anemia, a neutropenia, a leukopenia and thrombocytopenia (with the increased risk of infections and bleedings);
• Cirrhosis;
• Severe pain in joints and bones, often in hip and knee joints;
• Neurologic symptoms;
• Type II: serious spasms, hypertension, mental retardation, apnoea;
• Type III: twitching of muscles, spasms, dementia, apraxia of eye muscles;
• Osteoporosis;
• Yellowish-brown xanthopathy.

Treatment of a disease to Gosha

Treatment of a disease to Gosha of a subtype 1 and 3 can begin with intravenous replacement of enzyme of a recombinant glyukotserebrozidaza that can reduce considerably the sizes of a liver and spleen, skeletal anomalies and to turn back other manifestations. This procedure costs about $200000 for one patient and has to repeat annually throughout all life of the patient. Also treatment of a disease to Gosha is performed by means of a medicine of Velaglucerase Alfa which was approved as alternative treatment since February, 2010.

Also successful transplantation of marrow which treats not neurologic displays of a disease as during the procedure monocytes with active beta glucosidase are entered can be treatment of a disease to Gosha. However this procedure bears great risk and is seldom recommended at a disease to Gosha.

Surgery on removal of a spleen (splenectomy) is required in rare instances if the patient has an anemia or when the increased body influences health of the patient. Hemotransfusion can take place for patients with anemia symptoms. Also in certain cases surgical replacement of joints for improvement of mobility and quality of life is required.

Other methods of treatment of a disease to Gosha include reception of antibiotics from infections, antiepileptics, bisfosfonat for bone defeats, and also transplantation of a liver.

The disease to Gosha is also treated by means of oral administration of drugs which act on molecular level. Miglustat is one of these drugs and was approved for treatment of a disease to Gosha in 2003.