What is ASMD?
Acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease types A, B, and A/B, is a life-threatening lysosomal storage disease that affects children and adults.
HOW RARE IS ASMD?
ASMD affects approximately 1 in every 200,000 newborns. Because so few people have ASMD, not many doctors are familiar with this disease.
WHAT MAKES ASMD A GENETIC DISEASE?
ASMD is passed from parents to their children through the ASMD gene. ASMD is an autosomal recessive disease, which means that 2 copies of the gene are needed to cause the disease—1 copy from each parent. Oftentimes, the parents of someone with ASMD don’t have the disease themselves, but are each carrying (and have passed on) 1 copy of the gene.
WHAT DOES “ENZYME DEFICIENCY” HAVE TO DO WITH ASMD?
In people with ASMD, the enzyme acid sphingomyelinase (the “ASM” in ASMD) is missing or doesn’t work the way it should (it’s deficient). This causes the toxic buildup of a substance (sphingomyelin) within the cells of the body, which leads to ongoing damage and the many symptoms of ASMD.
WHAT MAKES ASMD HARD TO RECOGNIZE?
ASMD can be mistaken for other, more common diseases. Some people live with symptoms for years before they find a doctor who can recognize ASMD and give them a correct diagnosis.
Signs of ASMD
of patients have splenomegaly
of patients have interstitial lung disease
of patients have hepatomegaly
of patients have thrombocytopenia
Don’t let ASMD go unrecognized
Suspect ASMD if you see any 1 or combination of the common signs and symptoms
Could ASMD be hiding in your practice?
Learn more about the many manifestations of ASMD