Causes and risk factors
Deficiency of the enzyme glucocerebrosidase causes Gaucher’s disease. It is inherited in autosomal recessive pattern. There are 3 types of the disease – Type 1- [nonneuropathic – CNS unaffected], Type 2 & Type 3 [neuropathic – CNS affected].Type 1 is the most common type. It does not affect brain. It can occur at any age. Type 2 causes brain damage and is usually seen in infants and they die by age of 2 years. In Type 3 there may be brain affections; it starts in childhood to adolescents.
Clinical presentation
Patient can present with a variety of symptoms such as skeletal abnormalities like thinning of your bones, bone pain, and bone fractures. There is loss of muscle coordination, excessive fatigue. There is a greater susceptibility to bruising. Nosebleeds are common. Yellow spots in eyes, abnormal eye movements are observed. Brain problems including mental retardation or dementia, rigidity, and seizures can occur. Delayed puberty is seen. Enlarged liver, decrease in healthy red blood cells may occur. Hepatosplenomegaly is common.
Investigation
Medical history by the patient and clinical examination by the doctor helps in diagnosis. Preconception and prenatal screenings help to prevent the condition. Blood tests are done. MRI scan of bones is required. Genetic mutation analysis is recommended.
Treatment
Treatment options include bone marrow transplantation. Enzyme replacement therapy will also help in managing the disease condition. Administration of oral medication will contribute further to the treatment.
Other Modes of treatment
The other modes of treatment can also be effective in treating Gaucher’s disease. Homoeopathy is a science which deals with individualization and considers a person in a holistic way. This science can be helpful in combating the symptoms. Similarly, the Ayurvedic system of medicine which uses herbal medicines and synthetic derivates are also found to be effective in treating Gaucher’s disease.
Facts and figures
1 in 50,000 to 1,00,000 suffer from the disease.
