Guide To The Symptoms And Diagnosis Of Lysosomal Acid Lipase Deficiency

Lysosomal acid lipase deficiency (LAL-D), previously known as Wolman disease and cholesteryl ester storage disease, is an inherited and progressive condition. Patients with this disorder have a mutation on the LIPA gene, a gene responsible for teaching the body to make LAL enzymes. As a result of this mutation, patients with this condition are unable to break down certain types of lipids, and these then accumulate in the vital organs, including the heart, liver, kidneys, and spleen. While individuals of any age can have lysosomal acid lipase deficiency, most patients begin to experience symptoms before five years old, and patients diagnosed in infancy typically show symptoms within the first month of their life. Since this disease is uncommon, it is frequently misdiagnosed. Doctors may incorrectly attribute a patient's symptoms to cardiovascular disease or metabolic disease, and it takes nearly five years for many patients to receive a correct diagnosis. In the United States, Europe, and Japan, enzyme replacement therapy is an approved treatment method. Patients are normally placed on cholesterol-reducing medication as well.

Some of the most common diagnostic tests and symptoms associated with lysosomal acid lipase deficiency are outlined below.

Enlarged Liver And Spleen

An enlarged liver and spleen are typical features of lysosomal acid lipase deficiency, and the entire abdomen is often distended and painful. To assess the size of the liver and spleen, the doctor will perform an abdominal examination. During the exam, they will gently tap on the areas over the spleen and liver and lightly feel each organ to assess for size and firmness. If the physical exam indicates these organs may be enlarged, ultrasounds and other imaging studies can be carried out to obtain more detailed information. Liver enlargement usually occurs in conjunction with liver dysfunction, liver failure, or cirrhosis, and patients who have an enlarged spleen might also have an overactive spleen that may reduce platelet counts and lead to anemia.

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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.

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