Lysosomes function as recycling centers within cells breaking down a number of unwanted materials to digest particular nutrients, such as certain fats and carbohydrates. When these enzymes are defective or missing altogether because of genetic mutations, LSDs develop as a result of abnormal build-up of material in the body's cells. This disease is typically present later in childhood or even in adulthood.
The complications of Wolman disease progress over time, eventually leading to life-threatening problems such as extremely low levels of circulating red blood cells, liver dysfunction or failure, and physical wasting. The affected infants with Wolman disease cannot survive beyond the first year of their life.
Symptoms of Wolman disease:
The signs and symptoms of Wolman disease usually appear shortly after birth, typically in the first few weeks of life. Affected infants may have the following:
- Feeding difficulties with frequent vomiting
- Diarrhea
- Swelling of the abdomen
- Enlargement of the liver and spleen
- Failure to gain weight or sometimes weight loss
- low muscle tone
- low blood iron
- x-ray reveals calcified adrenal glands
Causes Wolman Disease:
Wolman disease as stated above is typically caused due to the lack of LAL gene. This can be name as a genitival disorder. Wolman disease may go undetected sometime; this clearly states that there are no such clinical measures to inform in the medical literature about how common this condition is. Both the community of males and females are equally affected with this disease. Recently greater frequency of an abnormal LAL gene has been established in the Iranian-Jewish population.
Treatments:
Currently we are in the progress of finding a better and approved treatment for Wolman disease that clinically stops or reverse the abnormalities in patients with Wolman disease. Researchers are on their way of investigating therapies called hematopoietic stem cell transplantation (HSCT), also known as bone marrow transplant, to try to prevent the disease from getting worse.
Stem cell replacement, which requires the child to be hospitalized and treated with very strong medicines before and after the procedure, has its own significant risks and potential benefits
The recent researched has claimed the following effectiveness due to the Stem cell replacement therapy:
- The healthy cells produced by the new marrow contain sufficient levels of lysosomal acid lipase required to breakdown cholesterol and triglycerides.
- Individuals with Wolman disease treated with hematopoietic stem cell transplantation have shown improvement of existing symptoms and avoidance of additional complications such as liver failure.
- HCST for Wolman’s disease at present is associated with a high risk of serious complications.
The other alternative treatment would be the Gene therapy where in the defective gene present in a patient is replaced with a normal gene to enable the production of active enzyme and prevent the development and progression of the disease in question. Once the permanent transfer of the gene is given that will be able to produce active enzyme at all sites of disease, then only this form of therapy is theoretically lead to a "cure”. However, due to the technical difficulties, the resolution for the gene therapy is stagnant under its way.
As of now if the adrenal glands are not functioning well, medications can be given to replace the hormones the glands usually make. IV Nutrition can be given intravenously rather than through the digestive system. Recent clinical tests stated that the Bone marrow transplant caused remission in one patient. Blood transfusion can be given if anemia develops in the patient. These treatment measures can be processed for Wolman Disease.
