ASMD symptoms can be multisystemic and life‑threatening1
Suspect ASMD if a patient presents with a combination of these signs and symptoms.1,2
Hallmark signs and symptoms of ASMD1,3*
Frequency of ASMD patients experiencing hallmark signs and symptoms
*Symptom prevalence data for splenomegaly, interstitial lung disease, hepatomegaly, thrombocytopenia, and pediatric growth delay are only for patients with ASMD type B. Gastrointestinal issues symptom prevalence is for all ASMD types.1, 2
ASMD may be presenting in your practice, know the symptoms
-
Pulmonary
- Respiratory infections
(ie, pneumonia) - Interstitial lung disease
- Shortness of breath
- Chronic fatigue
- Pulmonary hypertension
- Respiratory infections
-
Hepatic
- Hepatomegaly
- Fibrosis and cirrhosis
- Elevated transaminases
- Dyslipidemia
-
Splenic
- Splenomegaly
- Abdominal pain, pressure, and early satiety due to splenomegaly
-
Hematologic
- Anemia
- Thrombocytopenia (excessive bleeding and easy bruising)
-
Gastrointestinal
- Abdominal pain
- Diarrhea
-
Neurological
Mainly types A and A/B- Mainly types A and A/B
- Hypotonia
- Ataxia
- Developmental delay
- Peripheral neuropathy
-
Ophthalmologic
Mainly types A and A/B- Mainly types A and A/B
- Cherry red maculae
-
Cardiac
Mainly types A/B and B- Mainly types A/B and B
- Coronary artery disease
- EKG abnormalities
-
Skeletal
- Back, limb, and/or joint pain
- Pathologic fractures
- Osteopenia/Osteoporosis
- Growth delay