notes+for+Gaucher+disease+c+Initial+assessment,+monitoring,+and+clinical+course

notes on Gaucher disease: Initial assessment, monitoring, and clinical course

q Gaucher disease (GD) is an inborn error of metabolism that affects the recycling of cellular glycolipids. GD is the most common lysosomal storage disease.

q Glucocerebroside (also called glucosylceramide) and several related compounds that ordinarily are degraded to glucose and lipid components accumulate within the lysosomes of cells.

GD has 3 types type 1 is non-neuropathic (the type I am studying)

The initial assessment involves confirmation of deficiency of glucocerebrosidase (also known as glucosylceramide or acid beta-glucosidase, GBA), genotyping, and a complete family medical history if these were not part of the diagnostic process

list of family history aspects

The initial laboratory evaluation should include measurement of hemoglobin concentration, platelet count, and biochemical markers (ie, chitotriosidase, angiotensin converting enzyme [ACE], tartrate-resistant acid phosphatase [TRAP], and/or high density lipoprotein [HDL])

useful biomarkers: chitotriosidase, chemokine CCL18, 16:0-glucosylceramide to 16:0-lactosylceramide and elevated plasma concentrations of lysosomal-associated membrane protein-1 (LAMP-1) and saposin C

q Activity of chitotriosidase is absent in six to eight percent of patients who have a mutation in the chitotriosidase gene

q other associated features, including B12 and vitamin D deficiency, iron overload, autoimmune disease, and platelet dysfunction

q The initial radiology assessment should include various examinations to evaluate liver and spleen volume and the extent and severity of skeletal disease

CT or MRI to see volume of spleen and liver

bone marrow infiltration

compression fractures of spine and femoral head

q Sedation may be necessary for younger children during MRI or CT scanning. The risk of sedation in these settings appears to be acceptably low when performed in accordance with published guidelines.

q Functional health and well-being — Children with GD are subject to the same psychosocial problems as any child with a chronic disease (anger, fear, insecurity, isolation)

q Visceromegaly, growth abnormalities, and delayed puberty may affect their body image and self-esteem.

measure occurrence and severity of pain

q Skeletal disease — Measurement of serum calcium, phosphorous, alkaline phosphatase, and concentrations of vitamin D and parathyroid hormone may be indicated to exclude other causes of bone disease.

The estimated average life expectancy at birth for a patient with GD type 1 was 68 years, based upon data from the Gaucher Registry, compared with 77 years in the standard United States population.

Do people need a spleen to survive? q Splenectomized and non-splenectomized patients had a life expectancy of 64 years and 72 years, respectively [51].

q GD2 has the poorest prognosis of all types of GD. Patients have rapidly progressive neurologic deterioration and death usually occurs before the child reaches two years of age.

q Pregnancy can exacerbate the symptoms of Gaucher disease, particularly in women whose disease is not controlled by enzyme replacement therapy (ERT)

q Women with GD can generally expect a good pregnancy outcome

q The live birth rate was 87 percent.

good summary sentence q • Gaucher disease (GD) is caused by deficiency of glucocerebrosidase, which results in abnormal accumulation of glycolipids within cellular lysosomes.

q • The presence of neurologic complications has important implications for prognosis and treatment and should be determined as soon as possible after diagnosis. Neuronopathic disease can be excluded at the time of diagnosis through objective assessment of eye movements and audiologic testing. However, children should undergo a thorough neurologic evaluation at baseline if these specialized tests are not available.

GD2 wasn't very clear to me at this time