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.