Living with LSDs


Symptom treatment and continuous care

LSD patients generally receive very different types of medical treatments. Since many LSDs affect various parts of the body, patients are often treated by different physicians who specialize in various fields. A specialist in the specific diseases will often coordinate the treatment of a patient to monitor the evolution of the disease and to adjust the treatment accordingly.




Since for most diseases there is no specialized treatment that addresses the underlying enzyme problem, treatment is usually focused on alleviating and fighting physical symptoms. For example, kidney problems can be addressed with dialysis, skeletal problems with corrective surgery, muscle relaxation with physiotherapy.

Disease-oriented treatment options

Although symptom management is important for all LSDs, treatments are available for some of the diseases to address the underlying enzyme problem:


Bone marrow transplantation or transplantation of hematopoietic (or blood-forming) stem cells (BMT / HSCT)

These cells are transplanted from a healthy, unaffected person to an LSD patient. Although there are risks of rejection of these cells and other complications, it is the intention to introduce healthy cells that can produce the missing or malfunctioning enzyme.

Enzyme replacement therapy (ERT)

An infusion of the missing or poorly functioning enzyme is administered directly into the patient's bloodstream. The goal of ERT is to ensure that the patient has the right amount of enzyme to process waste. Currently ERT cannot penetrate the blood-brain barrier and therefore has no effect on the symptoms related to the central nervous system.


Substrate synthesis inhibition therapy (SSI) or substrate reduction (SRT)

The drug is administered orally (by mouth). The goal of SSI is to limit the production and accumulation of waste material - or substrate - in the cells. The therapy could be used in LSDs in which the central nervous system is affected or in addition to other treatments. This type of therapy currently only exists for Gaucher disease.



Genetic advice and genetic screening

LSDs are genetic diseases, which means that people inherit them from their parents. For more information, see the section Understanding genetic diseases. When an LSD is determined in a person, it is important to determine whether other family members have also been affected. For example, a brother or sister may also have the disease but do not yet have symptoms. And parents who do not have the disease, but who carry the mutated gene that causes the disease, can go to a genetic advisor to understand the risks and have an idea about the chance that they will contract the disease



Psychological guidance


It is also important to pay attention to the psychological and emotional impact that LSDs can have on patients and their families. Professional counseling can help patients to better deal with the problems associated with their disease and the lifestyle changes that may be required. See the page about Patient associations for organizations that can provide information and where you can turn to for assistance.