Wolman Disease


Wolman’s disease is a genetically inherited illness which involves the use and breakdown of cholesterol and fats within the body, or also known as lipid metabolism. Patients with such disorder have deficiency in lysosomal acid lipase which is an enzyme necessary to metabolize particular lipids present in the cells. Because of this deficiency, huge amounts of lipids will accumulate within the liver, bone marrow, spleen, the adrenal glands, lymph nodes and the small intestine. Not only will fat deposits be present, but calcium may also build up within the adrenal glands.

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Occurrence and Symptoms of Wolman’s Disease

Wolman’s disease seldom happens as the estimated number of newborns with this disease is only 1 out of every of 350,000. Infants affected with this condition seem normal and are healthy at birth, but they soon show symptoms and signs such as enlarged spleen (hepatosplenomegaly) or liver, poor muscle tone, low weight gain, jaundice, diarrhea, vomiting, bad absorption of nutrients from food, anemia or low levels of iron in the blood and developmental delay. Because of these conditions, children affected by Wolman’s disease suffer from severe malnutrition and they often cannot survive later than the early childhood years.

Causes

The disease is inherited, although it is of the recessive kind wherein the disorder does not develop solely on the presence of one defective gene from one parent. It needs two, one abnormal gene each from both parents. The deficiency of the lysosomal acid lipase enzyme is caused by a mutation of the LIPA gene, which is responsible for controlling the production of the lysosomal acid lipase enzyme. When there is no proper instruction to produce the enzyme, the resulting shortage leads to the amassing of cholesterol and fats within the tissues of the body, which in turn become toxic. Out of the estimated number of cases, one can tell that this disease is very rare but the survival rate from such disease is low. Also, it does not choose which gender to affect.

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Diagnosis

The confirmation of Wolman’s disease done by doctors are either through a biopsy of the skin or a blood sample of the affected individual or one showing symptoms indicating the disease. The samples are tested to check the level of the enzyme lysosomal acid lipase. If the results show lesser than ten percent from the norm, this verifies the disease.

Treatment

At present, there is no sure-fire cure for the disease so the treatments done to patients are to control the symptoms from growing worse. Medications are given on certain cases such as the malfunctioning of adrenal glands which recover the hormones that are usually made by the glands. Furthermore, nutrition is done intravenously rather than given via the digestive tract. Most treatments are offered in various specialized centers and sometimes need input from a group of physicians of varying specializations. Genetic counseling may also be recommended for the affected patient including their families. Other specified interventions are:

 Replacing the regular or normal formula bottle to a new, specialized, low fat formula.

 Parenteral nutrition

 Therapy for steroid replacement due to concerns with adrenal function

 Use of antibiotics

In various researches, cord blood transplant and bone marrow transplant are being tried as possible treatments for Wolman’s disease. Currently, researchers are studying various treatments for the disease such as replacing the abnormal gene with a normal gene via gene therapy and replacing the deficient enzyme through enzyme replacement therapy.

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