LAL Deficiency is a rare inherited condition. The gene that is responsible for telling the body how to make the LAL enzyme is altered. You have to inherit two copies of the altered gene, one form each parent before you have symptoms. Symptoms vary from person to person. It is under diagnosed.
Lysosomal Acid Lipase Deficiency (LALD)
Lysosomal Acid Lipase Deficiency (also known as Cholesterol Storage Disorder, Wolman’s Disease or LAL deficiency) is a rare condition affecting only a few people in the UK.
It belongs to a group of medical conditions, described as “lysosomal storage disorders”.
LAL is an enzyme that is responsible for breaking down fats in a part of the cell called the lysosome. Because the LAL enzyme is missing, or deficient, fats build up in the body's cells. This appears to happen mostly in the liver, gastrointestinal and cardiovascular systems. People inherit the disorder by receiving an altered gene from both their mother and father. People with one altered gene are carriers of the gene but do not have symptoms.
All ages can be affected, from infants through to adults. People who present with LAL deficiency often have high cholesterol and triglycerides, and a very low HDL-cholesterol level. LAL deficiency is under diagnosed, largely because the symptoms mimic other more common conditions.
It is estimated that between 1 in 500,000 and 1 in 1,000,000 babies present with LALD and that a further 1 in 40,000 to 1 in 300,000 people present later in life, either in childhood or adulthood. Those diagnosed in infancy often have a more aggressive form of LALD than those diagnosed later in life.
Not everyone is equally affected by the condition and symptoms can vary from person to person. However this is a serious life threatening condition. Symptoms range from difficulty digesting and absorbing food, growth failure, weight loss, fatty stools and liver failure to abdominal pain, fatigue, diarrhoea, nausea, loss of appetite, itchy skin and a swollen abdomen.
Cholesterol lowering drugs and special diets are the mainstay of treatment but a new drug that targets the underlying cause has recently been licenced for use in Europe and the US. NICE are currently looking into the cost effectiveness of this new treatment for severe cases of LALD and have called for further research.