NORRBOTTNIAN GAUCHER DISEASE

TYPES 

Norrbottnian gaucher disease is categorized into three types, these includes:

• Type 1 Gaucher, which is the most common type. Its symptoms are mild, and it develops at any age from infancy to maturity.
• Type 2 Gaucher, which typically appears in babies between 3 and 6 months. It is more severe than type 1. With this type, infants rarely survive beyond the age of 2.
• Type 3 Gaucher affects the central nervous system, and, like type 2, it may begin in infancy. However, it more commonly begins later in life.

SYMPTOMS

Symptoms of Gaucher may vary based on the type. They are as follows:

Type 1:

• Anemia
• Bone ache
• Lung disease
• Low blood platelets
• Arthritis
• Swollen liver or spleen
• Weak bones that break easily or Osteoporosis

Type 2:

• Spleen enlargement
• Infections
• Seizures
• Slow heart rate
• Apnea
• Brain damage
• Bluish skin
• Muscle spasms in the throat
• Lung difficulties
• Unable to swallow
• Pneumonia

Type 3:

• Lung disease that worsens over time
• Muscle contractions 
• Mental ability gradually deteriorates
• It is difficult to move the eyes from side to side or from top to bottom.
• Control issues with the arms and legs

DIAGNOSIS

To know if you have this condition, your doctor will examine and inquire about your symptoms. Additionally, they will diagnose you via a blood test that analyzes enzyme levels in your system. Furthermore, they will perform a DNA test using your saliva or blood to identify whether you are a carrier for Gaucher disease.

TREATMENT

Gaucher’s Disease has no treatment according to the physicians. However, medications and therapies may alleviate its symptoms.

Medications that are taken orally include:

• Acetaminophen 
• Ibuprofen 
• Miglustat
• Eliglustat 
• Alendronate 
• Pamidronate 

Other procedures for this condition may include the following:

• Enzyme Replacement Therapy (ERT)
• Substrate reduction therapy (SRT)
• Joint Replacement Surgery
• Bone Marrow Transplant
• Spleen Surgery
• Blood Transfusion
• Diet and Exercise