Table 1.

Modified from Biegstraaten et al. [98].

	Short-term goals for management of Gaucher disease type 1	Long-term goals for management of Gaucher disease type 1
Anemia-related symptoms	Eliminated blood transfusion dependency	Maintain normal hemoglobin values
	Increase hemoglobin levels within 12–24 months to normal values of age and sex
Bleeding tendency	Increase platelet counts sufficiently to prevent surgical, obstetrical, and spontaneous bleeding	Maintain platelet count of ≥100,000/mm3
	In patients with splenectomy - normalization of platelet count by 1 year of treatment
	In patients with an intact spleen: achieve platelet count of ≥100,000/mm3 by 3 years of treatment
Mobility	Lessen bone pain that is not related to irreversible bone disease within 1–2 years	Prevent bone complications: avascular necrosis, bone crises, bone infarcts, and pathological fractures
	Decrease bone marrow involvement, as measured by a locally used scoring system (e.g. BMB score or DGS) in patients without severe irreversible bone disease at baseline	Prevent osteopenia and osteoporosis (i.e. maintain BMD T-scores (DEXA) of >−1)
	Increase BMD by 2 years in adults for patients with a T-score below −2.5 at baseline	Prevent chronic use of analgesic medication for bone pain
	Attain normal or ideal peak skeletal mass in children	Maintain normal mobility or, if impaired at diagnosis, improve mobility
	Normalize growth such that the height of the patient is in line with target height, based upon population standards and parental height, within 2 years of treatment
Visceral complications	Avoid splenectomy, if at all possible	Maintain spleen volume of <2–8 times normal
	Alleviate symptoms due to splenomegaly: abdominal distension, early satiety, new splenic infarction	Maintain normal or (near) normal liver volume
	Eliminate hypersplenism	Prevent liver fibrosis, cirrhosis, and portal hypertension
	Reduce spleen volume to <2–8 times normal (or in absence of volume measurement tools reduce spleen size) by year 1–2, depending on baseline spleen volume
	Reduce the liver volume to 1.0–1.5 times normal (or in absence of volume measurement tools aim for normal liver size) by year 1–2, depending on baseline liver volume
General well-being	Improve scores from baseline of a validated quality-of-life instrument within 2–3 years or less depending on disease burden	Maintain good quality of life as measured by a validated instrument
	Reduce fatigue (not anemia related) as measured by a validated fatigue scoring system	Maintain normal participation in school and work activities
	Improve or restore physical function for carrying out normal daily activities and fulfilling functional roles	Minimize psychosocial burdens of life-long treatment
		Achieve normal onset of puberty Normalize life expectancy
Pulmonary complications	-	Prevent or improve pulmonary disease, pulmonary hypertension, and hepatopulmonary syndrome
Pregnancy and delivery	-	Prevent GD-related complications during pregnancy and delivery

BMB: bone marrow burden; BMD: bone marrow density; DGS: düsseldorf Gaucher score.