Wellness Library

Acid Lipase Disease Information

Synonym(s):   Cholesterol Ester Storage Disease, Wolman’s Disease

What’s Acid Lipase Disease?

Acid lipase disease occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the body’s cells and tissues.  These fatty substances, called lipids, include waxes, oils, and cholesterol.  Two rare lipid storage diseases are caused by the deficiency of the enzyme lysosomal acid lipase:

Wolman’s disease is an autosomal recessive disorder marked by the buildup of cholesteryl esters (normally a tranport form of cholesterol that brings nutrients into the cells and carries out waste) and triglycerides (a chemical form in which fats exist in the body).

Infants with the disorder appear normal at birth but quickly develop progressive mental deterioration, low muscle tone, jaundice, anemia, vomiting, malnourishment, gastrointestinal problems, and calcium deposits in the adrenal glands, causing them to harden.  Affected children also develop an enlarged liver and grossly enlarged spleen, and the abdomen is distended.  Both male and female infants are affected by the disorder.

Cholesteryl ester storage disease (CESD) is an extremely rare disorder that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue.  CESD is a less severe variant of Wolman’s disease, with later onset.

Children develop an enlarged liver, leading to cirrhosis and chronic liver failure before adulthood.  Children may also develop calcium deposits in the adrenal glands and jaundice.  Onset varies, and the disorder may not be diagnosed until adulthood.

Is there any treatment for Wolman’s disease or CESD?

There is no specific treatment for Wolman’s disease or CESD.  Certain drugs may be given to help with adrenal gland production, and children may need to be fed intravenously.  Individuals with CESD may benefit from a low cholesterol diet.

What’s the prognosis for Wolman’s disease or CESD?

Infants with Wolman’s disease usually die by age 1 from malnutrition.  The onset and course of CESD varies, and individuals may live into adulthood.

What research is being done related to Wolman’s disease or CESD?

The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health, conducts and funds research to better understand lipid storage diseases such as Wolman’s disease and CESD.  Other researchers are studying the effects of bone marrow or umbilical cord blood transplantation in children with storage diseases and are trying to identify the candidate genes that cause such disorders.

The National Library of Medicine (NLM), a part of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, offers free searches of biomedical literature through an Internet service called PubMed.  To search, go to:  http://www.ncbi.nlm.nih.gov/PubMed .  The NLM also offers extensive health information from NIH and other trusted sources.  To research your condition, go to:  http://www.medlineplus.gov .

Source:

Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

Last updated August 13, 2008

Wellness Library: Every day we are we hear new facts about how we should eat. From oat bran for heart disease, to the latest cucumber diet for weight loss.

So how do we know what to eat? The best advice we can follow are the U.S. Dietary Guidelines. These guidelines were revised in 1995. They are based on the opinions of dozens of nutrition experts across the nation. To maintain health and help prevent disease, follow these rules:

• Eat a variety of foods. Choose a diet with plenty of fresh fruits, vegetables, and whole grains.
• Choose a diet low in saturated and trans fats, and cholesterol. When you use fat, choose mono-fats such as olive and canola oils.
• Choose a diet moderate in sodium and salt.
• Balance the food you eat with daily physical activity.
• If you drink alcohol, do not exceed two drinks a day.

If you follow these guidelines, you will usually not need additional vitamins, minerals, or supplements. The exception to this is the case of a medical condition that does not allow taking in or absorbing enough nutrients, or where nutritional needs are very high. Examples include:

• calcium supplementation for women to prevent osteoporosis,
• iron supplementation for menstruating females,
• fat soluble vitamins for children with cystic fibrosis, or
• supplementation for wasting or malabsorptive diseases.

If your food intake is not sufficient, or you have a chronic condition, ask your healthcare provider about your need for nutritional supplementation.

Wellness Library: A tendon is a tough cord of dense connective tissue that attaches muscle to bone. Tendons transfer muscle power over a distance. The Achilles tendon is the large tendon connecting the heel bone to the calf muscle of the leg. Tendinitis is inflammation and swelling of a tendon. Achilles tendinitis, can be caused by:

• tight calf muscles,
• poor stretching habits,
• running on hard surfaces and hills,
• overuse,
• over-pronation so you walk on the insides of your feet, or
• worn out shoes.

Achilles tendinitis develops slowly, and it is hard to overcome. It is most common in runners. Often, athletes try to “run through” the pain. This makes the problem worse and prolongs healing. Early symptoms include swelling and redness over the tendon as well as a creaking feeling. More serious symptoms begin when you ignore the early symptoms. You’ll start to feel pain, aching, and stiffness before, during, and after exercise, and the tendon may become tender to touch. The pain will be worse when you walk uphill or climb stairs.

Follow these steps to speed healing:

• Stop doing the activity that caused the condition. Do 20-minute ice massage sessions intermittently for 48 to 72 hours, after 72 hours begin moist heat treatments.
• Start a rehab program seven to ten days after you notice the first symptoms, to stretch and strengthen your calf muscles and ankle.
• Wear half-inch heel lifts in BOTH shoes to relieve tension. Wear running shoes with rigid heel counters. This will reduce ankle pronation and pressure on your heel.
• Cross-train, performing aerobic activities that don’t stress the Achilles tendon, such as cycling or swimming.
• Seek medical care if the problem doesn’t clear up within two weeks.
• When you start running again, warm up then stretch before exercise. Ice the tendon afterward if there is pain.

Ibuprofen or aspirin will relieve pain and inflammation. If you treat it early, Achilles tendinitis can clear up within a week or two. If you don’t, it may take up to six months to overcome.

Wellness Library: Diets don’t work, healthy eating habits do. Healthy eating can’t be a part-time or temporary thing. You need to make positive decisions about what to eat each and every day. That doesn’t mean you can never eat your favorite food again, or that there are “good foods” that should replace the “bad foods”. What it does mean is that you need to strive for moderation and variety.

Think about what you eat. Maybe even write it down. Then look over your typical eating plan honestly. Maybe you love those two scrambled eggs each morning. How about substituting one egg white for one of the whole eggs? Or maybe your favorite nighttime snack is a big bowl of chocolate ice cream. Consider keeping it to one scoop, or switching to frozen yogurt, and adding bananas or berries to fill you up. Remember, small changes that you can live with, without feeling deprived, are the best.

Experts know that eating healthy is only one part of the answer. Exercise can make the biggest difference of all. The best exercise for you is the one you enjoy. Try a variety, and decide which you like best. You can exercise alone or with a friend. Get out in nature or join a club. For the most benefit, exercise for 30 minutes three times a week. Any way you do it, you win.