Warning Signs Of Niemann-Pick Disease

Niemann-Pick disease affects multiple systems throughout the body. It has many symptoms, and the severity varies from case to case. Rather than being one disease, Niemann-Pick has four distinct types. These are type C1 and C2, type B, and type A. The classification is based around the symptoms and signs, along with the genetic cause. Type A is typically noticed by the time a baby is three months old due to the enlarged spleen and liver. Type B presents in middle childhood. Types C1 and C2 tend to become apparent in childhood, though symptoms can develop at any point throughout a person's life. They're very similar in their symptoms and progression, but they have different genetic causes. Patients with type C1 and C2 might survive to adulthood.

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Recurring Pneumonia

Studies have concluded individuals with unexplained, recurrent pneumonia should be tested for Niemann-Pick disease. Other tests should also be done to see if there's an underlying cause. One study involved lung biopsies of four patients with type B plus two patients with type C. Every biopsy showed there was endogenous lipoid pneumonia, which is caused when lipids accumulate in the lungs. There are two types of lipoid pneumonia: exogenous and endogenous. Endogenous pneumonia occurs when the disease's cause is located internally, rather than being caused by an external influence. In most cases, individuals with endogenous lipoid pneumonia experience the condition due to bronchial obstruction. Pneumonia recurs because the body fails to metabolize the lipids properly, causing them to continue building up in the lungs. Even if the initial buildup is treated, the disease's progression can cause recurrences.

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