Top 5 Symptoms of Wolman’s Disease
The Main Symptoms of Wolman Disease that few know. In addition, Wolman’s disease , also called familial xanthomatosis, is a rare disease of genetic etiology included in the group of lipidoses, a disorder resulting from the deficiency of enzymes responsible for metabolizing lipids (fats).
The lack of this enzyme leads to the accumulation of triglycerides, cholesterol esters and other types of fats in the cells of various organs such as the spleen, liver, bone marrow, small intestine, adrenal glands and lymph nodes.
It is possible to diagnose Wolman’s Disease through prenatal examination, when Wolman’s Disease is already manifested in the fetus, through chorionic biopsy or amniocentesis, but the presentation most typically occurs in the first weeks of life with distention. abdominal pain and large hepatosplenomegaly, which can be very severe, which can also occur in the neonatal period, in addition to ascites at times.
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Wolman ‘s Disease can sometimes present in the fetus. The presence of calcified adrenal glands, which is revealed by radiography, is an almost constant and very characteristic sign. Know the 5 Main Symptoms of Wolman Disease:
- Difficulty in feeding, with constant vomiting;
- Diarrhea;
- Abdominal distension;
- Hepatomegaly and splenomegaly;
- Weight loss or difficulty gaining weight;
The difficulty in gaining weight is due to the malabsorption of nutrients, due to the accumulation of fat in the intestinal wall. In this way, children with Wolman’s disease tend to have growth retardation.
As Wolman’s disease occurs by autosomal recessive transmission, manifesting itself as a neurolipidosis, Wolman’s disease progresses rapidly to death, which occurs in about four months, and is characterized by a high cholesterol overload and hepatosplenomegaly, associated with adrenal calcifications.
There is no specific treatment for Wolman’s disease , only supportive measures are taken to control complications, adopting a diet restricted in foods rich in fat, as well as intravenous nutrition, use of drugs to reduce blood cholesterol and replacement of hormones synthesized by the adrenals.
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Note: It is also possible to diagnose Wolman’s disease through prenatal examination, through chorionic villus sampling or amniocentesis.