Niemann-Pick disease also known as NPC disease is little known and should be given special attention to diagnose the disease early on. In addition, Niemann-Pick Disease is a very rare hereditary genetic condition in which people cannot properly metabolize cholesterol and other lipids (fatty molecules) within their cells.
As a result, harmful amounts of cholesterol accumulate in the liver and spleen, and excessive amounts of other lipids accumulate in the brain. Symptoms include eye movement problems, difficulty in swallowing, slurred and slurred speech, lack of muscle control and progressive intellectual decline, which can lead to dementia.
The symptoms of type C Niemann-Pick disease are extremely varied, and so is the speed with which the disease progresses. Symptoms usually appear from mid to late childhood, although they may appear from a few months after delivery to the sixth decade of life.
Depending on the affected organs and symptoms, Niemann-Pick disease can be divided into three main groups:
Type A: is the most severe type and usually appears in the first months of life, reducing survival to about 4 to 5 years of age;
Type B: It is a less severe form of Type A that allows it to survive into adulthood.
Type C: This is the most common type that usually arises in childhood but can develop at any age.
Causes of Niemann-Pick Disease:
Although the exact mechanism of Niemann-Pick Disease has not yet been understood, we know that people with the condition have a defect in the way lipids normally move within body cells.
The lipids are essential for normal body functions; In particular, they are essential components of the ” skin ” of each individual cell, known as the membrane.
Important lipids , such as cholesterol , come from our diet or are produced within cells, where they enter the cell’s recycling unit called the lysosome — before being transported (traffic) out of the lysosome to the cell membrane.
In people with Niemann-Pick Disease , the normal movement of lipids in the cell is disrupted. The fatty molecules that enter the cell lysosome cannot escape. So instead of being recycled or reused, these lipids (especially cholesterol and glycosphingolipids).
They accumulate in various parts of the body, including the brain, liver and spleen. Eventually, toxic amounts of these fatty molecules are reached, causing damage, especially in the brain.
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Niemann-Pick Disease Symptoms:
Clinically, one should be suspicious of symptoms such as splenomegaly, ataxia and vertical ophthalmoplegia. Although there are no specific biochemical markers for definitive diagnosis, markers of macrophage (blood cell) activity such as chitotriosidase and CCL 18 in serum are available, which are increased in some patients with NPC disease.
Cytological diagnosis leads to the existence of NPC disease due to the presence of deposit foam cells and blue histiocytes in the bone marrow of the patients. For diagnostic confirmation on suspicion of NPC disease.
In addition to the molecular study of the NPC1 and NPC2 genes, the accumulation of lysosomal free cholesterol in fibroblast culture (obtained by skin biopsy ) by cytochemical technique called the filipin test should be demonstrated . Filipin is a synthetic antibiotic that has the ability to bind to free cholesterol to form a complex that emits fluorescence when illuminated with ultraviolet light.
Treatment of Niemann-Pick Disease:
So far there is no treatment available. However, in addition to symptomatic treatment, patients may benefit from substrate inhibitor (Miglustat) therapy . This drug, administered orally, will cross the blood-brain barrier allowing to slow the progression of the disease.
NPC disease has serious consequences for those who suffer from it. Early diagnosis, symptomatic treatment and substrate inhibitor treatment can help these patients until curative treatment is available.