What is Wolman Disease?

Wolman Disease

is a rare genetic disorder which is caused by the deficiency of the enzyme (protein which aids metabolic processes) Lysosomal Acid Lipase also known as LAL or LIPA. It is very rare and affects around 1 in 350,000 new born.

The absence of the enzyme prevents the breaking down of the fats or lipids inside the cells. This results in the abnormal accumulation of fats like cholesterol and triglycerides. The organs normally affected with fat deposits are liver, spleen, adrenal glands, lymph nodes and intestines.

This condition quite often develops within the first few weeks of birth and could be fatal for infants. Among adults this faulty genetic state is manifested in the Cholesteryl Ester Storage disease (CEST).

What are the symptoms of Wolman Disease?

  • Malnutrition
  • Feeding difficulties with frequent vomiting
  • Enlarged liver and spleen
  • Diarrhea
  • Anemia
  • Jaundice
  • Abdominal Distention (swollen belly)
  • Developmental delays
  • Abnormal weight gain or weight loss

What are the Diagnostic Tests Done to Detect this Disease?

  • X-Ray imaging of the adrenal glands showing presence of calcification (calcium deposits) around the outlines of the adrenal glands helps to confirm the diagnosis.
  • CT Scan and MRI Images showing enlarged liver and spleen also indicate this disease.
  • Testing the white blood cells from a blood sample for the level of the enzyme Lyposomal Acid Lypase (LAL present is a popular measure. In an infant having the disease, the level of LAL would be lesser than 10% of the normal level.
  • Biopsy of skin sample to detect the level of the enzyme is also done.
  • A prenatal (before birth) screening, namely amniocentesis is done to detect this genetic deficiency. A small sample of the fluid surrounding the foetus (developing baby in the womb) is extracted from the uterus and the chromosomes in the cells found in the fluid are tested to detect the absence of the concerned enzyme.

What are the Methods of Treatment of this Genetic Disorder?

Unfortunately, the damages of this disease cannot be undone. There is no definite line of treatment known to stop the progress of this disease either. Physicians do their best to manage and control symptoms like using antibiotics to treat infection.

Certain therapies are being increasingly used now in the treatment of Wolman disease.

  • Bone Marrow Transplant

    – In this therapy the stem cells in bone marrow(the soft spongy interiors in long bones) are transplanted in the patient’s body.The stem cells in the marrow develop into three types of blood cells,namely the red blood cells,the white blood cells and the platelets. The new cells contain LAL in sufficient amount to improve the metabolism of fats in the patient and reduces existing symptoms of the ailment. However,the procedure requires hospitalization and is risky and complicated.

  • Enzyme Replacement Therapy

    – The absent enzyme is substituted with artificial enzymes.

  • Gene Therapy

    – The faulty gene present in the cell of the patient is replaced with a normal gene. The normal gene is able to generate the LAL enzyme and prevent the disease from getting worse.

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