Table 5.

Gaucher Disease: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Bone pain
  • Referral to orthopedist to eval for mechanical problem (e.g., pathologic fracture or joint collapse secondary to osteonecrosis, degenerative arthritis)
  • Analgesics
  • Joint replacement surgery as needed
Bone pain in persons who have undergone joint replacement may indicate a problem w/the prosthesis & need for surgical revision.
Low bone density
  • Referral to metabolic bone specialist
  • Calcium & vitamin D
  • Anti-bone-resorbing agents may be indicated.
Wenstrup et al [2004], Masi & Brandi [2015]
Splenomegaly Partial or total splenectomy as needed for persons w/:
  • Massive splenomegaly
  • Significant areas of splenic fibrosis
  • Persistent severe thrombocytopenia w/high risk of bleeding
  • Partial or toral splenectomy may be needed in those w/massive spleen, areas of fibrosis, & persistent significant thrombocytopenia (platelets <30,000/mm3) & risk of bleeding, whether on therapy or not.
  • Splenectomy is not recommended where ERT/SRT is available, & there is no emergency bleeding, as it is assoc w/↑ bone disease.
Severe anemia / Bleeding
  • Transfusion of blood products as needed for severe anemia &/or bleeding diathesis
  • Eval by hematologist prior to any major surgery, dental procedure, or parturition.
Anemia & bleeding unresponsive to ERT or SRT should prompt investigations for intercurrent disease process.
Cholelithiasis Treatment per gastroenterologist or abdominal surgeon in those w/gallstones
Pulmonary disease / Pulmonary hypertension Treatment per pulmonologist &/or cardiologist
Multiple myeloma Treatment per oncologist
Psychological manifestations Treatment per psychiatrist &/or clinical psychologist
Parkinsonism Treatment per neurologist
Seizures Treatment per neurologistIn persons w/type 3 GD
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics in older persons w/neurologic involvement.

GD = Gaucher disease; ERT = enzyme replacement therapy; SRT = substrate reduction therapy

From: Gaucher Disease

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