Ceramide trihexosidosis
Overview
Ceramide trihexosidosis is also known as Fabry's disease, and is a condition wherein an enzyme deficiency causes a fat storage disorder. This is because the enzyme deficiency affects the lipid biodegradation functions of the body.
Symptoms
Symptoms of ceramide trihexosidosis are red spots in the skin, fatigue, and anhidrosis. A number of patients also suffer from gastrointestinal problems due to frequent needs to use the bathroom right after eating. Some patients also report a pain in their hands and feet.
Causes
Genetics is said to be the cause behind those with ceramide trihexosidosis. The X-chromosome gene is responsible for the disease, and the mother who has a chromosome is able to pass it on to her child. Her son would have a 50% chance of having the disease, while her daughter would have a 50% chance of being a future carrier.
Diagnosis
nitially, the diagnosis of Fabry disease is based on the presence of the symptoms. It should also be suspected if there is a family history of the disorder. The diagnosis of Fabry disease is definitively made by measuring the activity of the alpha-galactosidase A enzyme. When the activity is very low, it is diagnostic of Fabry disease. This enzyme analysis can be performed through a blood test. Measuring the activity of the enzyme can also detect female carriers. Women who are carriers of Fabry disease have enzyme activity that is lower than normal.`
Prognosis
The prognosis for individuals with Fabry disease is good, especially with the arrival of enzyme replacement therapy. Currently, affected individuals survive into adulthood with the symptoms increasing over time.
Treatment
Medications such as Tegretol and dilantin can help reduce the pain in the hands and feet, while Lipisorb is used to treat the gastrointestinal hyperactivity. Enzyme replacement is also a popular method of treatment for those who have ceramide trihexosidosis.