Niemann Pick disease is a hereditary disease that affects the metabolism of lipids or how fats, lipids, and cholesterol are stored in or removed from your body. People with Niemann-Pick disease have an abnormal lipid metabolism that causes an accumulation of harmful amounts of lipids in various organs. The disease mainly affects:
- Bone marrow
This leads to enlargement of the spleen and neurological problems.
The disease is divided into types A, B, C and E. Originally there was a type D, but research has shown that it is a variant of type C. Type E is a less common version of Niemann-Pick, which develops in adulthood.(1, 2, 3)
How Common Is Niemann Pick Disease Or Is It A Rare Disease?
The occurrence of both Type A and B Niemann Pick disease is reported to be one patient per 250,000 individuals when the total population of the world is taken into consideration, including all race and demographics. It is projected that one in every 150,000 individuals may suffer from Niemann Pick disease Type C.
The severity of the disease depends on the affected organs. Symptoms and treatments vary according to the type of Niemann Pick disease. However, each type is severe and can shorten a person’s life expectancy.
Symptoms Of Niemann Pick Disease
Type A: The signs and symptoms of the type A form of Niemann Pick Disease occur in the first few months of life and include:
Swelling of the abdomen by enlargement of the liver and spleen, which usually occurs at the age of 3-6 months
- A cherry-red spot in the eye
- Feeding difficulties
- Difficulty in exercising basic motor skills
- Bad muscle tone
- Brain damage as well as other neurological problems such as reflex loss
- Pulmonary disease
- Frequent respiratory tract infections
Type B: The symptoms of the type B form of Niemann Pick disease usually occur in late childhood or adolescence. Type B does not include motor difficulties that commonly occur with Type A. The signs and symptoms of type B can be:
Swelling of the abdomen by enlargement of the liver and spleen, which often begins in early childhood
- Respiratory infections
- Low platelet count
- Bad coordination
- Mental retardation and disorder
- Peripheral nerve problems
- Lung problems
- High lipids in the blood
Delayed growth or developmental dysfunction at a normal rate that causes dwarfism and ocular abnormalities
Type C: The symptoms of the type C form of Niemann Pick disease usually occur in children around the age of 5 years. Type C, however, can occur at any time in a person’s life, from birth to adulthood. Signs and symptoms of Type C include:
- Difficulty moving the limbs
- An enlarged spleen or liver
- Jaundice after birth
- Difficulties in learning
- A decline of the intellect
- Speech and swallowing disorder
- Loss of muscle function
- Difficulty moving the eyes, especially in the up-down direction
- Difficulty walking
- Inconstancy and clumsiness
- Loss of sight or hearing
- Injury to brain
Type E: Type E of the disease affects adults. This type is quite rare and research on this condition is limited, but the signs and symptoms include swelling of the spleen or brain and neurological problems such as Swelling in the nervous system.
Currently, no treatment for type A is known. Primarily symptomatic care is given to patients with any type of this disease. For Type B various treatment options have been used, including bone marrow transplantation, enzyme replacement therapy, and gene therapy. The research will continue to determine the effectiveness of these treatments.
For Type, C Physiotherapy helps in maintaining mobility. For the treatment of type C, currently, a drug called Miglustat is used. Miglustat is an enzyme inhibitor. It prevents your body from producing fatty substances, so less of it builds up in your body. In this case, the fatty substance is cholesterol.(4, 5)
Niemann Pick Disease is a rare genetic disorder, which is hereditary and has practically no cure. The disease has a Type A, B, C, and E variant. The Type A is particularly severe and Type E is most rare. Type A has no treatment and different treatment options are in trial for other variants. Only symptomatic management is currently an option.
- Capron T, Trigui Y, Gautier C, Puech B, Chanez P, Reynaud-Gaubert M. Respiratory impairment in Niemann-Pick B disease: Two case reports and review for the pulmonologist. Respiratory medicine and research. 2019;76:13-18.
- Pineda M, Juríčková K, Karimzadeh P, et al. Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review. Orphanet journal of rare diseases. 2019;14(1):32.
- Lu JZ, Hui EK-W, Lin H, Boado RJ, Pardridge WM. Platform technology for treatment of the brain in lysosomal disorders: Application to Niemann-Pick disease type A. Molecular Genetics and Metabolism. 2019;126(2):S95-S96.
- Patterson MC, Vecchio D, Jacklin E, et al. Long-term miglustat therapy in children with Niemann-Pick disease type C. Journal of child neurology. 2010;25(3):300-305.
- Schuchman EH, Desnick RJ. Types a and B Niemann-pick disease. Molecular genetics and metabolism. 2017;120(1-2):27-33.
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