Niemann-Pick is a rare but serious disease caused by a deficiency in a vital enzyme. This limits the body’s capability to metabolise lipids within cells, allowing a build-up of toxic substances that cause cells to malfunction and even die over time.
Niemann-Pick is progressive and affects numerous parts of the body, such as the nervous system, bone marrow, brain, liver, spleen, and lungs, leading to loss of nerve function, brain function, and even organ failure.
It can develop at any age but is most common in children. Because there is no known cure for this potentially fatal condition, any treatment available concentrates on improving the quality of life of the sufferer by dealing with the symptoms and the impact they have on the body.
There are three types of Niemann-Pick. Type A mostly occurs in children, while type B occurs later in childhood, but the brain is not affected as much as with type A. Therefore, most individuals with type B live into adulthood. Type C is rare and causes cholesterol and other fats to build up in vital organs such as the lungs and the liver.
There are many symptoms associated with Niemann-Pick. Which symptoms individuals go on to develop is highly dependent on the type of Niemann-Pick they have.
Some of the symptoms can include difficulty walking, slurred speech, stiffness in the muscles and joints, muscle spasms, loss of muscle mass, and lack of muscle control whilst walking and standing. Swallowing difficulties are also common, and this inevitably leads to feeding difficulties and regular episodes of choking.
Brain degeneration, breathing difficulties, and a general decline in overall health are also experienced with this disorder.
Niemann-Pick Type A is the most severe form of this disease and produces many symptoms which appear in early infancy. Children with this form of the disease do not live longer than 18 months, and severe brain damage can be present by just six months of age.
Type B symptoms are influenced by nerve damage, but the brain is not usually affected, whilst type C symptoms generally occur later in childhood or even during the teen and young adulthood years. Type C does affect the brain, so neurological symptoms are present, along with liver functioning disorders such as jaundice.
Niemann-Pick is caused by mutations in certain genes that are linked to producing an enzyme that helps the body metabolise cholesterol and other lipids. A deficiency in the enzyme acid sphingomyelinase allows these fats to build in organs.
Autosomal recessive inheritance of the mutated genes is a major risk factor in developing the different types of Niemann-Pick. This means that both mother and father must each pass the defective gene to their child.
Since there are many different symptoms associated with the various forms of Niemann-Pick, making a diagnosis based on a physical examination and the symptoms present alone is not possible.
Therefore, lab tests can also help to diagnose this disease. Examples include blood tests that measure the levels of the enzyme sphingomyelinase in the white blood cells and skin biopsies that assess how skin cells develop and cholesterol is moved and stored. Genetic testing for the mutated genes in both parents and the affected child can confirm the presence of Niemann-Pick.
There is no cure for Niemann-Pick. Therefore, treatment is focused on easing some of the symptoms to improve the quality of life of the sufferer. Physical therapy can help along with some drug therapies, but ultimately those with type A and C often die in infancy.
Prevention is all down to a genetic screening of potential parents to see if they are carriers of the defective genes involved in the development of Niemann-Pick. This can allow them to make an informed decision about the risks involved in starting a family.