Table 6. [Gaucher Disease: Recommended Surveillance]. - GeneReviews®

System/Concern	Evaluation	Frequency
General	Clinical assessment of disease progression using disease severity scoring system (DS3) ¹	At least every 12 mos
Clinical disease markers: ² Lyso-Gb1 Plasma activity of chitotriosidase (a macrophage-derived chitin-fragmenting hydrolase) Plasma PARC/CCL18 Note: Lyso-Gb1 is preferred, if available, obviating the need to monitor w/non-specific biomarker.	At least every 6-12 mos
Musculoskeletal	Assess for joint pain, ↓ range of movement, & bone pain
Radiograph of femur (AP view), spine (lateral view), & any symptomatic sites	For emergent complaints, or just before treatment modality or dose change
Coronal T₁- & T₂-weighted MRI of hips to distal femur T₁-weighted MRI to monitor bone marrow infiltration T₂-weighted MRI to detect bone infarcts, osteonecrosis, & osteomyelitis
DXA scan to identify osteoporosis	In those w/suspected osteoporosis At least every 2 yrs, in persons w/osteoporosis identified on previous DXA scan
Bone age radiograph	In children w/growth & pubertal delay
Liver / Spleen manifestations / Biliary disease	Assess for abdominal pain & early satiety due to abdominal pressure.	At least every 6-12 mos
Assessment of spleen & liver volumes (& parenchymal abnl) by abdominal MRI or ultrasound (if MRI is not available) Assessment for gallstones ³	At least every 1-2 yrs Persons w/gallstones may need more frequent follow up by ultrasound.
Serum iron, ferritin, & vitamin B₁₂	In persons whose blood counts indicate anemia
Liver enzymes (aspartate aminotransferase or alanine amino transferase)	At least every 6-12 mos If abnormal results are obtained, consider referral to gastroenterologist.
Hematologic	Assess for bleeding from nose or gums, menorrhagia, bruises, petechiae	At least every 6-12 mos
Hemoglobin Platelet count Coagulation indices	Prior to surgical or dental procedures Additional testing based on symptoms & treatment status
Pulmonary	Assessment for shortness of breath Pulmonary exam	At least every 6-12 mos
EKG & echocardiography w/Doppler to identify ↑ pulmonary artery pressure	In those who have had splenectomy, ≥ every 6-12 mos if initial reading has indicated ↑ PA pressures; or as indicated, per cardiologist
Cardiac	Assessment for fatigue Clinical cardiac exam	In adults, at least every 6-12 mos
Nutrition	Assessment of growth (height, weight, & head circumference using standardized growth charts)	In children, at least every 6-12 mos
Assessment for weight loss	In adults, at least every 6-12 mos
Vitamin D	In those taking vitamin D, every 6-12 mos
Psychiatric	Assessment for depression, change in social, domestic, or school- or work-related activities	In adults, at least every 6-12 mos
Endocrine	Assessment of pubertal changes (using Tanner staging system)	In prepubertal patients, at least every 6-12 mos
Neurologic	Assessment of gait & for neurologic manifestations A severity scoring tool has been developed to evaluate neurologic features of type 2 & 3 GD. ⁴	At least every 6-12 mos
Assessment for parkinsonian manifestations	Per neurologist

System/Concern

Evaluation

Frequency

General

Clinical assessment of disease progression using disease severity scoring system (DS3) ¹

At least every 12 mos

Clinical disease markers: ²

Lyso-Gb1
Plasma activity of chitotriosidase (a macrophage-derived chitin-fragmenting hydrolase)
Plasma PARC/CCL18

Note: Lyso-Gb1 is preferred, if available, obviating the need to monitor w/non-specific biomarker.

At least every 6-12 mos

Musculoskeletal

Assess for joint pain, ↓ range of movement, & bone pain

Radiograph of femur (AP view), spine (lateral view), & any symptomatic sites

For emergent complaints, or just before treatment modality or dose change

Coronal T₁- & T₂-weighted MRI of hips to distal femur

T₁-weighted MRI to monitor bone marrow infiltration
T₂-weighted MRI to detect bone infarcts, osteonecrosis, & osteomyelitis

DXA scan to identify osteoporosis

In those w/suspected osteoporosis
At least every 2 yrs, in persons w/osteoporosis identified on previous DXA scan

Bone age radiograph

In children w/growth & pubertal delay

Liver / Spleen manifestations / Biliary disease

Assess for abdominal pain & early satiety due to abdominal pressure.

At least every 6-12 mos

Assessment of spleen & liver volumes (& parenchymal abnl) by abdominal MRI or ultrasound (if MRI is not available)
Assessment for gallstones ³

At least every 1-2 yrs
Persons w/gallstones may need more frequent follow up by ultrasound.

Serum iron, ferritin, & vitamin B₁₂

In persons whose blood counts indicate anemia

Liver enzymes (aspartate aminotransferase or alanine amino transferase)

At least every 6-12 mos
If abnormal results are obtained, consider referral to gastroenterologist.

Hematologic

Assess for bleeding from nose or gums, menorrhagia, bruises, petechiae

At least every 6-12 mos

Hemoglobin
Platelet count
Coagulation indices

Prior to surgical or dental procedures
Additional testing based on symptoms & treatment status

Pulmonary

Assessment for shortness of breath
Pulmonary exam

At least every 6-12 mos

EKG & echocardiography w/Doppler to identify ↑ pulmonary artery pressure

In those who have had splenectomy, ≥ every 6-12 mos if initial reading has indicated ↑ PA pressures; or as indicated, per cardiologist

Cardiac

Assessment for fatigue
Clinical cardiac exam

In adults, at least every 6-12 mos

Nutrition

Assessment of growth (height, weight, & head circumference using standardized growth charts)

In children, at least every 6-12 mos

Assessment for weight loss

In adults, at least every 6-12 mos

Vitamin D

In those taking vitamin D, every 6-12 mos

Psychiatric

Assessment for depression, change in social, domestic, or school- or work-related activities

In adults, at least every 6-12 mos

Endocrine

Assessment of pubertal changes (using Tanner staging system)

In prepubertal patients, at least every 6-12 mos

Neurologic

Assessment of gait & for neurologic manifestations
A severity scoring tool has been developed to evaluate neurologic features of type 2 & 3 GD. ⁴

At least every 6-12 mos

Assessment for parkinsonian manifestations

Per neurologist

From: Gaucher Disease

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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