Niemann-Pick is a rare, inherited disease that affects the body’s ability to metabolize fat (cholesterol and lipids) within cells. These cells malfunction and over time die. People with niemann-pick disease have an abnormal lipid metabolism that causes a buildup of harmful amounts of lipid in various organs.
The disease primarily affects the following;
- Liver
- Spleen
- Brain
- Bone marrow
This leads to enlargement of the spleen and neurological problems.
Types of Niemann-Pick Disease
The disease is broken down into types A,B,C and E. originally there was a type D, but research found that it’s a variant of type C. Types A and B are referred to as type 1. Type C is referred to as type 2. Type E is a less common version of Niemann-Pick that develops in adulthood.
Signs and Symptoms
Type A – signs and symptoms of the type A form of Niemann-Pick disease are present within the first few months of life and includes;
- Swelling of the abdomen from enlargement of the liver and spleen, which usually occurs around 3-6 months of age
- Swollen lymph nodes
- A cherry-red spot inside the eye
- Difficulty feeding
- Difficulty performing basic motor skills
- Poor muscle tone
- Brain damage along with other neurological problems, such as a loss of reflexes
- Lung disease
- Frequent respiratory infections
Type B – the symptoms of the type B form of Niemann-Pick disease usually begin to appear in late childhood or adolescence. Type B doesn’t include motor difficulty commonly found in type A. the signs and symptoms of type B include;
- Swelling of the abdomen from enlargement of the liver and spleen, which often begins in early childhood
- Respiratory infections
- Low blood platelets
- Poor coordination
- Mental retardation
- Psychiatric disorders
- Peripheral nerve problems
- Lung problems
- High lipids in the blood
- Delayed growth, or failure to develop at a normal rate, which causes short stature and eye abnormalities
Type C – symptoms of the type C form of Niemann-Pick disease usually begin to appear in children around 5 years old. However type C can appear anytime in a person’s life, from birth to adulthood. The signs and symptoms of type C include;
- Difficulty moving limbs
- An enlarged spleen or liver
- Jaundice, or yellowing of the skin after birth
- Difficulty learning
- A decline in intellect
- Dementia
- Seizures
- Difficulty speaking and swallowing
- A loss of muscular functioning
- Tremors
- Difficulty moving the eyes, especially in an up-and-down direction
- Unsteadiness
- Difficulty walking
- Clumsiness
- A loss of vision or hearing
- Brain damage
Type E – the symptoms of the type E form of Niemann-Pick disease are present in adults. This type is quite rate and research on the condition is limited, but the signs and symptoms include swelling of the spleen or brain and neurological problems, such as swelling within the nervous system.
Diagnosis
Diagnosis of Niemann-Pick disease begins with a thorough physical exam, which can show an early warning sign such as an enlarged liver or spleen. The doctor will also take a detailed medical history and discuss symptoms and family health history. Niemann-Pick disease is rare, and its symptoms can be confused with other diseases. Diagnostic techniques depend on the type of Niemann-Pick disease.
- Type A or B – using a blood or skin sample (biopsy), experts measure how much sphingomyelinase is in white blood cells to confirm the diagnosis.
- Type C – experts take a small sample of skin to test for Niemann-Pick to assess how the cells move and store cholesterol.
Other tests also may be done, such as;
- Magnetic Resonance Imaging (MRI)
- Eye Exam
- Genetic Testing
- Prenatal Testing
Treatment
No cure exists for Niemann-Pick disease. No effective treatment is available to people with type A or B. for people with moderate type C, a drug called miglustat (Zavesca) may be an option. An international study of 92 people with type C Niemann-Pick showed improved neurological symptoms after taking miglustat regularly for an average of two years.
Physical therapy is an important part of treatment to help maintain mobility as long as possible. People with Niemann-Pick disease need to see their doctors regularly, because the disease progresses and symptoms worsen.
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