The Niemann Pick disease is a hereditary disorder related to lysosomal storage. The Niemann-Pick disease is a part of the group of diseases involving sphingolipidoses. These are metabolic diseases that are largely manifested in the central nervous system. These are characterized by dysfunctions in the lysosomes.
The Niemann Pick disease is inherited as an autosomal recessive trait. In autosomal recessive inheritance, the defective allele is located on a homologous chromosome or on an autosome. Only homozygous carriers become ill. This means that the genome of a cell must have two identical copies of the defective gene on both chromosomes for the disease to break out.(1)
Niemann-Pick syndrome is based on a genetic enzyme defect. Affected is the enzyme sphingomyelinase. Sphingomyelinase is responsible for the cleavage of sphingomyelin. The enzyme defect leads to increased storage of sphingomyelins in the lysosomes of the spleen, bone marrow, brain, and liver. Lysosomes are cell organelles that contain digestive enzymes. They digest non-cellular material such as pathogens or cell debris. They also play an important role in programmed cell death (apoptosis).(2)
Life Expectancy Of Someone With Niemann Pick Disease
Type A Niemann Pick disease is also referred to as an acute infantile neuropathic form. The disease begins at the age of three months and manifests itself in a drinking weakness and developmental disorders of individual tissues and organs.
The main symptom of type A Niemann Pick disease is the swelling of the liver (hepatomegaly). This can also occur in combination with splenomegaly. In addition, the lymph nodes are palpable and show brownish discoloration of the skin. In the second year of life, neurological degradation starts. Affected toddlers become deaf, blind and lose social contact.
The type A Niemann Pick disease prognosis is fast and children with the disease die within two years. This form is the most common variant of the disease.
Type B Niemann Pick disease is also referred to as a chronic visceral form. It is a mild course with swelling of the liver and pulmonary infiltrates. There is no involvement of the central nervous system. The life expectancy of the patients is limited to some extent.
Type C of Niemann Pick disease causes neonatal jaundice. The skin and sclera of the affected newborns are colored yellow due to bilirubin accumulation. Also typical for this variant of the disease is supranuclear palsy. This leads to progressive paralysis of the eye muscles with double vision or disturbances of balance.
Cerebellar ataxia with disorders of movement coordination can be observed. In the course of the disease, patients often develop dysphagia. This can cause aspiration pneumonia. The onset of the disease in type C varies and the first symptoms may occur in infants, children or even in adolescence or adulthood.(3,4)
Diagnosis Of The Treatment Course
Niemann Pick disease is diagnosed at the outset of an extensive physical examination with early signs including enlargement of spleen or liver. Your doctor may take a thorough family history and explores signs and background of medical conditions. The disease of Niemann Pick disease is very rare, and symptoms are often mistaken for other disorders. The methods of diagnosis vary with the disease type.
The disease has no practical treatment course and the patients are offered with treatments to minimize the symptoms. Currently, different clinical trials are going on. The prognosis of Niemann Pick disease is unfavorable. The disease is a genetic defect. Although the disease can be diagnosed before birth, no cure is possible. Doctors and physicians focus to this day on the development of adequate medical care after the birth of the person affected. Currently, the treatment consists of the initiation of drug therapy in order to best support the metabolism of the patient.(4, 6)
As a genetic disorder with no known cure, the life expectancy of Niemann Pick disease is short in severe cases. Type A and B patients usually die within two years of disease onset. Life expectancy is better for the other forms (Type C and E), but still, the disease is fatal. There is no treatment for Type A except symptomatic relief. Therapies available for Type B and C are in the preliminary stage and still needs more research and development.
- Vanier MT. Niemann–pick diseases. Handbook of clinical neurology. Vol 113: Elsevier; 2013:1717-1721.
- Schuchman EH. Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann–Pick disease. FEBS letters. 2010;584(9):1895-1900.
- Vanier MT. Complex lipid trafficking in Niemann-Pick disease type C. Journal of inherited metabolic disease. 2015;38(1):187-199.
- Schuchman EH, Desnick RJ. Types a and B Niemann-pick disease. Molecular genetics and metabolism. 2017;120(1-2):27-33.
- Vanier MT, Gissen P, Bauer P, et al. Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review. Molecular genetics and metabolism. 2016;118(4):244-254.
- 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.
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