NIEMANN PICK DISEASE

NIEMANN PICK DISEASE

Niemann Pick disease is an uncommon, inherited disease that affects the ability of the body to metabolize fat inside the cells. This causes the cells to start malfunctioning until they die. Furthermore, it affects the brain, nerves, liver, spleen, and bone marrow resulting in the malfunction of nerves, brain, and other organs. 

Moreover, Niemann-Pick is caused by mutations in particular genes connected to how the body metabolizes fats, including cholesterol and lipids. These gene mutations are passed from parents to children. It is an incurable, life-threatening disease that occurs at any age, but is more common with children. 

TYPES

  • Types A and B

These types are caused by a sphingomyelinase, which is a malfunctioning enzyme that damages the body’s fat metabolism.

  • Type C

This type is an uncommon, inherited disease that causes cholesterol and other fats to gather in the liver, lungs, spleen, and brain.

  • Type E

This is a rare type that often occurs in adults. 

SYMPTOMS

The signs and symptoms for Niemann Pick disease are:

  • Difficulty in walking
  • Difficulty in eating and swallowing
  • Recurring pneumonia
  • Uncontrolled muscle contractions or eye movements
  • Sleep disruptions

If your child develops any of or anyone in your family develop these signs, see your doctor right away.

DIAGNOSIS

The diagnosis starts with a thorough physical exam. Afterward, the doctor will get a detailed medical history, family health history and discuss your symptoms.

The diagnostic techniques will depend on the type of Niemann-Pick disease.

  • For types A and B, experts will use blood or skin samples to measure the level of sphingomyelinase in white blood cells.
  • For type C, experts will take a tiny sample of skin to assess how the cells move and store cholesterol.

Other tests include:

  • Magnetic resonance imaging (MRI) 
  • Eye exam
  • Genetic testing
  • Prenatal testing

TREATMENT

Niemann-Pick disease has no cure and no effective treatment available to people with type A or B. For some people with mild to moderate type C, a drug named miglustat is a good option. 

Also, physical therapy is a crucial part of treatment to maintain mobility. Furthermore, it is significant to see the doctors as the disease progresses in order for symptoms to be managed.

Related Articles

TETRALOGY OF FALLOT

Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Tetralogy of Fallot is a congenital heart defect that affects the [...]

TRICHINOSIS

Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Trichinosis, also known as trichinellosis, is a parasitic infection caused by [...]

TRIGEMINAL NEURALGIA

Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Trigeminal neuralgia is a neurological condition characterized by severe facial pain. [...]