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Overview of lysosomal storage disorders.

Lysosomal storage disorders, or LSDs, are inherited conditions (passed down from parent to child) in which the body doesn’t produce enough of a type of enzyme that breaks down fats or sugars. The fats or sugars build up and cause symptoms throughout the body.

More than 40 different LSDs have been identified. Individually, each of these conditions is fairly rare. When grouped together, LSDs affect about one in 7,700 people.1

The most common LSDs include:

  • Gaucher disease
  • Fabry disease
  • Niemann-Pick disease
  • Hunter syndrome
  • Pompe disease
  • Mucopolysaccharide (MPS) disease

All LSDs are progressive, which means they get worse over time. However, the rate at which they progress and the severity of symptoms varies by condition, and sometimes varies from patient to patient.

LSDs affect different systems and organs throughout the body, including:

  • Bones and joints
  • Central nervous system
  • Eyes
  • Heart
  • Kidneys
  • Lungs
  • Spleen
  • Liver
  • Skin

Diagnosing a LSD can be challenging and may take years, both because of their rarity and because the symptoms can mimic other conditions. Doctors often diagnose the disorder after they have recognized a pattern of symptoms. Diagnosis is confirmed through blood tests that look for the defective gene that causes the condition.

While LSDs can’t be cured, most can be treated. The most common treatments include:

  • Enzyme replacement therapy (ERT), in which an infused medication is used to replace the missing enzyme
  • Substrate reduction therapy (SRT), an oral medication that helps the body break down excess fats

If you have questions, or need more information, contact your doctor or your CVS Specialty CareTeam.

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1National Gaucher Foundation website,, Accessed November 30, 2018.