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SIGNS & Symptoms

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Get to know the signs and symptoms of ASMD

Multiorgan symptoms can worsen over time

ASMD can affect many organs and body systems—and each person’s experience with the disease may be different. Knowing how these symptoms may appear and change over time can help you keep track of you or your child’s condition, and is useful information to share with your healthcare team.

ASMD most commonly affects the spleen, liver, lungs, blood, and digestive system. Symptoms may appear as:

Protruding abdomen
due to enlarged liver
and/or spleen

Protruding abdomendue to enlarged liver and/or spleen
Coughing and difficulty breathing

Coughing and
difficulty breathing

Easy bruising
and bleeding

Easy bruising and bleeding
Abdominal pain and diarrhea

Abdominal pain
and diarrhea

Symptoms of ASMD overlap with other conditions

Many symptoms of ASMD mimic other conditions as well—such as blood cancers and diseases of the heart and lungs. Certain ASMD symptoms also overlap with Gaucher disease, another rare, genetic disease that can worsen over time.

Delays in diagnosis are common due to this symptom overlap between ASMD and other conditions. Your doctor may test for other diseases to ensure that you receive an accurate diagnosis.

ASMD can impact multiple organs and body systems

  • Symptoms of the lungs include coughing and difficulty breathing, chronic fatigue, and high blood pressure
    • Coughing and difficulty breathing
      (due to interstitial lung disease [scarring of lungs] and infections such as pneumonia)
    • Chronic fatigue
      (tiredness that does not improve over time due to interstitial lung disease)
    • High blood pressure that affects the heart and lungs
      (known as pulmonary hypertension)
  • Symptoms of the liver include an enlarged liver, scarring of the liver, increased liver enzymatic activity, and abnormal cholesterol levels
    • Enlarged liver
      (known as hepatomegaly)
    • Scarring of the liver
      (known as fibrosis, which can worsen and become cirrhosis, leading to further complications)
    • Increased liver enzymes
      (due to liver dysfunction)
    • Abnormal cholesterol levels
      (known as dyslipidemia)
  • Symptoms of the spleen include and enlarged spleen and abnormal pain, pressure and loss of appetite
    • Enlarged spleen
      (known as splenomegaly)
    • Abdominal pain, pressure, and loss of appetite
      (due to enlarged spleen)
  • Blood related symptoms may include fatigue due to a decrease in red blood cells (anemia) and easy bruising and bleeding due to decreased blood platelets (thrombocytopenia)
    • Fatigue
      (due to decrease in red blood cells, known as anemia)
    • Easy bruising and bleeding
      (due to decreased blood platelets, known as thrombocytopenia)
  • Gastrointestinal symptoms may include abdominal pain and discomfort, and diarrhea
    • Abdominal pain and discomfort
    • Diarrhea
  • Symptoms of the brain and nervous system for types A and A/B include decreased muscle tone, impaired balance and coordination, developmental delays in children, and tingling in hands and feet
    • Types A and A/B mainly
    • Decreased muscle tone
      (known as hypotonia)
    • Impaired balance and coordination
      (known as ataxia)
    • Developmental delays in children
    • Tingling in hands and feet
      (due to nerve damage, known as peripheral neuropathy)
  • Symptoms of the eyes mainly for types A and A/B include red spot retinas (cherry red maculae)
    • Mainly types A and A/B
    • Red spot on retinas
      (known as cherry red maculae)
  • Symptoms of the heart mainly types A/B and B include damage to heart blood vessels (coronary artery disease) and an abnormal heartbeat, and heart problems from an early age
    • Mainly types A/B and B
    • Damage to heart blood vessels
      (known as coronary artery disease)
    • Abnormal heartbeat
      (can be seen on electrocardiogram [EKG])
    • Heart problems from an early age
  • Skeletal symptoms include back, limb, and/or joint pain, frequent bone fractures, and growth delay in children
    • Back, limb, and/or joint pain
    • Frequent bone fractures
      (due to weakening of bones, known as osteopenia and osteoporosis)
    • Growth delay in children

ASMD symptoms can have an impact on your daily activities

The physical and emotional toll of ASMD may affect individuals differently. Over time, symptoms can impact mental and social well-being, along with physical health. Some people may experience:

  • More frequent trips to the hospital due to worsening symptoms
  • The need for more medications to help control symptoms and use of medical devices to assist with performing day-to-day activities
  • A reduction in energy and difficulty keeping up with obligations at school, work, and in personal relationships
  • Feelings of sadness, loneliness, and frustration

If you are the caregiver of a child with ASMD, you may experience similar feelings of isolation, fatigue, and grief. Share your experiences with friends, family, and healthcare professionals if you feel they are becoming overwhelming.

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