Gaucher disease

Symptoms

Are the main symptoms of Gaucher disease enlarged liver and spleen, low platelets, and low hemoglobin?

The main signs and symptoms of Gaucher disease are:

  • Enlarged spleen and/or liver
  • Anemia causing fatigue
  • Easy bruising and bleeding (due to low platelet count)
  • Bone pain or weakness (osteopenia, osteonecrosis, bone crisis), especially in 70-100% of type 1 patients
References
  • Gaucher disease. [Internet]. Gene Reviews [updated May 14. 2015]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1269/
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What are the health issues with Gaucher disease?

What does neuronopathic Gaucher disease mean?

What are the health issues with Gaucher disease?

Common health problems in patients with Type 1 Gaucher disease are:

1. Bone Pain/Bone crisis

2. Hepatosplenomegaly (large liver and spleen)

3. Anemia (causing easy fatigue)

4. Thrombocytopenia (low platelet counts causing easy bruising and bleeding)

5. Osteopenia/Osteoporosis

References
  • Gaucher disease [Internet]. National Disorders of Rare Diseases [updated 2014]. Available from: http://rarediseases.org/rare-diseases/gaucher-disease/
What does neuronopathic Gaucher disease mean?

The signs and symptoms seen in Type 2 and 3 Gaucher disease, but not Type 1, are:

  • Seizures and cognitive impairment
  • Muscle stiffness
  • Strabismus (crossed eyes)
  • Ocular motor apraxia
  • Loss of coordination and balance
  • Gait abnormalitites

Type 1 Gaucher disease does not affect the CNS and therefore is termed non-neuronopathic Gaucher disease. Individuals living with type 1 Gaucher disease can live a normal lifespan. Type 2 Gaucher disease is a progressive disease course resulting in early mortality by 2 years of age. Determining if a child has type 2 or type 3 Gaucher disease is difficult and if enzyme replacement therapy is available, and the infant responds, it is then considered to be type 3 disease. However, it is important to remember that ERT does not cross the blood-brain barrier and may not correct many of the aspects of type 3 disease. It may be helpful to find a geneticist specializing in neuronopathic Gaucher disease.

References
  • Gaucher disease [Internet]. National Disorders of Rare Diseases [updated 2014]. Available from: http://rarediseases.org/rare-diseases/gaucher-disease/

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