Table 2.
Organ-wise Involvement in Gaucher Disease.
| Organ system | |
|---|---|
| General | Reduced quality of life, delayed milestones, growth retardation, pubertal status |
| Skeletal | Chronic bone pain (33%), acute bone crises (7%) Kyphosis including gibbus, scoliosis and chest deformities Bone fractures (7%) Skeletal growth retardation (36%) Bone remodeling failure (Erlenmeyer flask deformity) Osteopenia (55%) Osteonecrosis, avascular necrosis head femur Osteolysis, osteosclerosis |
| Visceral organs | Abdominal pain, early satiety, feeling of fullness, diarrhea Splenomegaly (85%), splenic infarcts Hepatomegaly (63%) (may progress to cirrhosis, portal hypertension) Cholelithiasis |
| Hematological | Anemia (34%)—Fatigue, exertional dyspnea, need for blood transfusions Thrombocytopenia (68%) spontaneous bleeding—epistaxis, bruising, menorrhagia or hemostatic problems after trauma, surgery or post-partum bleeding Leukopenia: increased risk of infection Gammopathy |
| Lungs | Dyspnea (exertional), cough, recurrent respiratory infections Pulmonary hypertension with dyspnea on exertion or at rest, syncope Hepatopulmonary syndrome—clubbing, cyanosis, orthopnea |
| CNS (Type 2/3) | Strabismus, saccade initiation failure, supranuclear gaze palsy, slow object tracking, hypertonia, rigidity, opisthotonus, bulbar palsy, seizures, ataxia, myoclonus, dementia, mental retardation |
| Skin | Yellow/brownish discoloration Bruises, petechiae |
| Heart | Valvular calcification, congestive heart failure, arrhythmias |
| Eyes | Pingueculae Corneal opacities Strabismus, saccade initiation failure (ocular motor apraxia) in type 3 disease |
| Lymphatic | Enlarged lymph nodes |
| Malignancies | Increased risk of multiple myeloma, hematological malignancy, hepatocellular carcinoma, renal cell carcinoma |
The percentages are taken from Charrow J et al of the Gaucher Registry.5 Figures for neurological involvement will differ between populations.