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(E75) Disorders of sphingolipid metabolism and other lipid storage disorders
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59 638 in individuals diagnosis disorders of sphingolipid metabolism and other lipid storage disorders confirmed
10 673 deaths with diagnosis disorders of sphingolipid metabolism and other lipid storage disorders
18% mortality rate associated with the disease disorders of sphingolipid metabolism and other lipid storage disorders
Diagnosis disorders of sphingolipid metabolism and other lipid storage disorders is diagnosed Men are 26.00% more likely than Women
37 571
Men receive the diagnosis disorders of sphingolipid metabolism and other lipid storage disorders
5 833 (15.5 %)Died from this diagnosis.
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22 067
Women receive the diagnosis disorders of sphingolipid metabolism and other lipid storage disorders
4 840 (21.9 %)Died from this diagnosis.
Risk Group for the Disease disorders of sphingolipid metabolism and other lipid storage disorders - Men and Women aged 5-9
In Men diagnosis is most often set at age 0-79
Less common in men the disease occurs at Age 80-95+Less common in women the disease occurs at Age 70-95+
In Women diagnosis is most often set at age 0-69
Disease Features disorders of sphingolipid metabolism and other lipid storage disorders
Absence or low individual and public risk
Disorders of sphingolipid metabolism and other lipid storage disorders - what does this mean
Disorders of sphingolipid metabolism and other lipid storage disorders occur when the body is unable to properly break down and store certain types of lipids, such as sphingolipids. this can lead to the accumulation of these lipids in the body, which can cause a variety of health problems, including neurological and muscular disorders, skin disorders, and even death.
What happens during the disease - disorders of sphingolipid metabolism and other lipid storage disorders
Disorders of sphingolipid metabolism and other lipid storage disorders are caused by mutations in genes that are responsible for the production, transport, and breakdown of sphingolipids and other lipids. these mutations lead to an accumulation of these lipids in the body, which can cause a variety of health problems, including neurological and cardiovascular issues.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical examination
- Blood tests to measure levels of sphingolipids
- Urine tests to measure levels of sphingolipids
- Liver function tests
- Imaging tests such as MRI or CT scans
- Genetic testing to identify mutations in genes that are associated with sphingolipid metabolism disorders
- Biopsies of skin or muscle tissue to examine the accumulation of sphingolipids
Treatment and Medical Assistance
Main Goal of Treatment: To reduce symptoms and improve quality of life
- Regular monitoring of lipid levels in the blood
- Dietary changes to reduce fat and cholesterol intake
- Medication to lower cholesterol and triglyceride levels
- Exercise to improve metabolic health
- Vitamin and mineral supplements to correct any deficiencies
- Regular monitoring of liver enzymes
- Regular monitoring of liver and kidney function
- Regular monitoring of neurological function
- Regular monitoring of vision and hearing
- Regular monitoring of growth and development in children
- Regular monitoring of skin and hair health
- Regular monitoring of heart health
- Regular monitoring of blood sugar levels
30 Days of Hospitalization Required
203 Hours Required for Outpatient Treatment
Disorders of sphingolipid metabolism and other lipid storage disorders - Prevention
The best way to prevent disorders of sphingolipid metabolism and other lipid storage disorders is to maintain a healthy lifestyle, including a balanced diet and regular physical activity. additionally, it is important to monitor cholesterol levels, as high levels may be an indication of an underlying disorder. lastly, it is important to be aware of family history and to speak to a doctor if there is any concern about potential genetic predisposition.