Guide To The Symptoms And Diagnosis Of Lysosomal Acid Lipase Deficiency

Jaundice

Jaundice is a symptom that can occur in both infants and adults with lysosomal acid lipase deficiency. It refers to a yellow discoloration of the skin, whites of the eyes, and mucous membranes. This symptom develops due to an abnormally high level of bilirubin, a yellowish bile pigment. For patients with LAL-D, jaundice results from the liver function issues that occur with this ailment. Along with jaundice, patients could have itchy skin, and they may experience weight loss and dark-colored urine. To evaluate this symptom, the physician will look at the patient's skin for signs of liver issues, including bruises, spider angiomas, and palmar erythema. Blood and urine tests are used to measure bilirubin levels, and CT scans and biopsies of the liver may be appropriate. To treat jaundice, doctors focus on treatment for the underlying condition and on the management of jaundice-related symptoms such as itchy skin.

Keep reading to uncover more warning signs of lysosomal acid lipase deficiency now.