What Are The First Symptoms Of Niemann Pick Disease & How Do You Test For It?

Niemann Pick Disease (abbreviated as NPD) implies a group of diseases, which passed down from inherited families, where fatty substances i.e. lipids accumulate within the cells of the brain, liver, and spleen. Niemann Pick Disease mainly takes place three different forms i.e. Type A, Type B, and Type C. Each type has the involvement of different organs. In some cases, Niemann Pick Disease may involve respiratory and nervous systems, while others do not. (1)

What Are The First Symptoms Of Niemann Pick Disease?

What Are The First Symptoms Of Niemann Pick Disease?

Initially, Niemann Pick Disease comes with the following signs and symptoms-

  • Difficulty in walking and clumsiness
  • Excessive eye movements or muscle contractions i.e. dystonia
  • Sleep disorders or disturbances
  • Difficulty in chewing food and swallowing
  • The recurrent form of pneumonia (2)

Symptoms of Niemann Pick Disease According to Specific Types

Type A Niemann Pick Disease

Signs and symptoms in case of type A Niemann Pick Disease remain present within the initial few months of a patient. These are-

  • Abdominal swelling, including the enlargement of the spleen and liver, which often take place approximately 3months to 6months age.
  • Swelling of lymph nodes
  • A cherry or red spot within eyes
  • Difficulty in basic motor skills and feeding
  • The poor form of muscle tone
  • Brain damage and related neurological problems, including the reflexes loss
  • Lungs problems and frequent infections in the respiratory system

Type B Niemann Pick Disease

Symptoms in case of Type B Niemann Pick disease often come during the adolescence or later childhood. Accordingly, the symptoms include-

  • Swelling in the abdominal area starting from early childhood
  • Enlargement of spleen and liver starting from early childhood
  • Low blood platelets
  • Respiratory infections
  • Mental retardation
  • Poor coordination
  • Psychiatric disorders
  • Lung problems
  • Peripheral nerve issues
  • High blood lipids
  • Delay in growth or failure in developing at a regular rate, which results in eye abnormalities and short stature

Type C Niemann Pick Disease

Symptoms of Type C Niemann Pick Disease often start in children from 5years old. Common signs and symptoms include-

  • Difficulty in the movement of limbs
  • Yellowing of one’s skin or jaundice after birth
  • Difficulty to understand or learn
  • Intellect decline
  • Seizures and Dementia
  • Muscle function loss
  • Difficulty to speak and swallow
  • Difficulty in eye movement
  • Difficulty in walking
  • Tremors
  • Unsteadiness
  • Clumsiness
  • Hearing or vision loss
  • Brain damages (3)

How Do You Test For Niemann Pick Disease?

Diagnosis of Niemann Pick Disease starts with a regular physical examination. Accordingly, it shows initial waning symptoms in the form of an enlarged spleen and enlarged liver. Also, your doctor will collect your details related to medical history and discuss various symptoms as well as history about your family health. In most of the cases, symptoms of Niemann Pick disease are confusing ones with various other diseases. Because of this, diagnosis technique, in this case, depends on the specific type of Niemann Pick Disease.

Type A or Type B: Diagnose in this case involves the usage of a skin or blood sample i.e. biopsy, according to which doctors measure the amount of sphingomyelinase present in the patient’s white blood cells to confirm the presence of Type A or Type B Niemann Pick Disease.

Type C: Experts conduct a small sample skin test to access the numbers of cells, which move and store the cholesterol levels in case of Niemann Pick disease.

Along with this, doctors recommend a few other tests to diagnose Niemann Pick Disease (regardless of its type).

Eye Examination: A regular eye examination shows various signs, including the problem of eye movement difficulties, which indicate the problem of Niemann Pick disease.

Magnetic Resonance Imaging: MRI i.e. Magnetic Resonance Imaging of the patient’s brain indicates the loss of brain cells. However, the problem, in this case, is that initially MRI shows normal results, as symptoms often take place before the brain cells’ loss.

Prenatal Ultrasound Test: Prenatal ultrasound test detects the enlarged spleen and liver, which mainly takes place due to type C Niemann Pick Disease. Moreover, doctors use a chorionic villus and amniocentesis sampling method to confirm the diagnosis of Niemann Pick disease.

Genetic Test: Genetic test or DNA test of a specific blood sample highlights the abnormal genes, which cause each of the three different types of Niemann Pick disease. DNA tests also highlight the carriers for each type of Niemann Pick Disease if mutations mentioned in the first person within a family.

References:  

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