Liver
Enlarged liver (hepatomegaly), liver failure, dysfunction, chronic scarring of the liver (cirrhosis)
Patient image is hypothetical.
Signs and Symptoms of LAL-D (Lysosomal acid lipase deficiency)
Heart
High amounts of bad cholesterol (LDL), low amounts of good cholesterol (HDL), heart dysfunction, hardening of arteries (atherosclerosis), heart attack, and/or cerebrovascular accident (stroke)
Digestive Tract
Stomach pain, poor absorption, gallbladder problems, bleeding, and diarrhea
Spleen
Enlarged, overactive spleen, anemia
Other complications
Infants may have growth failure or failure to thrive, poor nutritional status, and calcium deposits in the adrenal glands
TALK TO YOUR/YOUR LOVED ONE’S DOCTOR ABOUT LAL-D
Infants with LAL-D can have very clear physical signs:
enlarged belly, stomach pain, frequent vomiting, diarrhea, constipation, and difficulty eating. Older children and adults with LAL-D may not have apparent physical signs or symptoms, making it difficult to diagnose. Your/your loved one’s doctor should check bloodwork for signs like abnormal liver tests, LAL enzyme activity, and high cholesterol.
