Niemann Pick disease is a genetic condition. Niemann Pick disease is of various types such as Type A, B, and C. All the different types of Niemann Pick disease have different onset with different fatality. The disease is characterized by failure to metabolize lipids leading to its accumulation. Almost all the organs get affected by Niemann Pick disease. Various factors trigger this condition.

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How Does Niemann Pick Disease Affect The Body?

Niemann Pick disease is characterized by the inability of the body to deal with cholesterol and lipids. There is a problem in the metabolism of these substances within the cells. In some types of Niemann Pick disease, this may be due to deficiency of a particular enzyme. Following are certain symptoms associated with Niemann Pick Disease:

Neurological Disorders: Niemann Pick disease is characterized by progressive neurological degeneration. In type A Niemann Pick disease, death may occur due to neurological loss.1 Various neurological symptoms experienced include increased sensitivity to touch, brain degeneration, and blurred speech. The patient also experiences loss of intellectual abilities and suffers from dementia.

Spleen Disorders: Considerable amount of lipids gets stored in the spleen leading to enlargement of spleen, a condition known as splenomegaly. There is a high risk of spleen rupture especially in patients who are indulged in contact sports.

Liver Diseases: Liver enlargement or hepatomegaly also occurs in Niemann Pick disease. The condition is progressive and may lead to liver failure. Patient, during the process, may also suffer from severe hepatic conditions such as ascites and persistent jaundice.2

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Dysphagia: Dysphagia is considered as the risk factor for mortality in Niemann Pick disease. Oropharyngeal dysphagia is significantly dangerous as it may lead to food or fluid congestion in the lungs that leads to pneumonia.3

Gastrointestinal Disorders: Problems in the liver affects the overall gastrointestinal system. The patient experiences poor appetite, malnutrition, gastric distension, and gastric pain.

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Poor Posture: Niemann Pick disease causes basal ganglia dysfunction. This dysfunction results in the poor posture of limbs. This leads to difficulties in coordination, balance, and gait.

Ocular Problems: Niemann Pick disease also causes visual dysfunction. The patient experiences impairment in the voluntary eye movement, a condition also known as supranuclear gaze palsy.

Bone Disorders: Patients with Niemann Pick disease have abnormal development of the skeletal system. Patients have short stature and the mineralization of bone is slow.4 The bone marrow cavities get enlarged and the cortical bone becomes thin.

Muscle Health: Niemann Pick disease causes a sudden loss of muscle tone. Gelastic cataplexy is seen in such patients. The patient also experiences a sudden loss of muscle tone while walking or standing which may lead to a fall.5

Sleep Disorder: Niemann Pick disease affects various cells, especially hypocretin secreting cells, of the hypothalamus. This results in sleep disturbances. The patient may experience sleep inversion i.e. the patient sleeps in the day and remains awake during the night.

Triggers For Niemann Pick Disease

There is no cure for Niemann Pick disease. The treatment is aimed to manage the symptoms of this condition. One of the important strategies adopted in managing the symptoms is to keep the patient away from the triggers. Some of the triggers for Niemann Pick disease are:

Emotional Stimulation: Strong emotional stimulation may result in increased severity of Niemann Pick disease. People who get angry are at higher risk of worsening of symptoms.

Physical Exertion: Strenuous activities and physical exertion increase the severity of Niemann Pick disease symptoms.

Unexpected Laughter: Cataplexy in Niemann Pick disease can be triggered by unexpected laughter. A patient with Niemann Pick disease develops “drop attacks” during lauchter.6

Conclusion

Niemann Pick disease affects almost every part of the body. The organs affected most commonly are spleen, liver, brain, bones and gastrointestinal system. The disease causes sleep disturbances, poor intellectual ability, poor growth, malnutrition, dysphagia, liver failure, splenomegaly, and death. Triggers for worsening the symptoms of Niemann Pick disease are strong emotions, and physical exertion.

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Pramod Kerkar

Written, Edited or Reviewed By:

, MD,FFARCSI

Pain Assist Inc.

Last Modified On: August 19, 2019

This article does not provide medical advice. See disclaimer

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