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Gaucher’s Disease

Discussion

     - in 1882, Gaucher described idiopathic hypertrophy of spleen w/o leukemia;
- results from autosomal recessive deficiency of lysosomal enzyme glucocerebrosidase (b-glucosidase), which ordinarily destoys the lipid material;
- it is the most common genetic lysosomal storage disorder;
- results in accumulation of of glucocerebroside in retinuloendothelia cells;
- bone involvement is common in Gaucher's disease;
- expansion and erosion of the cortices of bone with instances of AVN, bone crisis, and pathologic frx;
- classification:
- type I: (adult form)
- chronic noneuronopathic type;
- central nervous system is spared & disease is characterized by slowly progressive visceral and osseous involvement;
- enlarged spleen may cause mechanical problems, including abdominal distention and abdominal pain as well as
shortness of breadth, as well as causing pan cytopenia;
- splenectomy may be performed for thrombocytopenia;
- bone pain is a common complaint, which often resolves after 1-2 days;
- bone pain may also be due to pathologic frx, osteomyelitis, or DJD;
- type II::
- acute neuropathic form;
- most patients don't survive more than 9 months;
- type III:
- sub acute neuronopathic;
- convulsions are frequent;


- Clinical Presentation:
- bone crises (episodes of pain and swelling), sometimes accompanied by fever but w/o x-ray changes, are common, recurrent
manifestations of the disease.
- often the pain cannot be controled w/ narcotics;
- pain may last days or several weeks;
- AVN of the femoral head
- is often the most symptomatic lesion;
- bilateral disease is common;
- hypersplenism:
- spleen may become enormous and splenic infarcts are common;
- pancytopenia w/ severe thrombocytopenia is seen;
- splenectomy offers temporary relief but pancytopenia may recur w/ depletion of the normal marrow elements;


- Radiographs:
- fusiform enlargement of distal metaphyseal area of femur w/ incomplete tubulation & radiolucent areas;
- flaring of distal femur (Erlenmeyer-flask deformity), is classic sign;
- note that the "flask" deformity is also found in Niemann-Pick disease and osteopetrosis;
- Niemann Pick disease is associated w/ severe mental retardation (and therefore should not be confused w/ Gaucher's disease);
- osteopetrosis has a characteristic appearance (hence should not be confused w/ Gaucher's);
- look for bone destruction, sclerosis, & periosteal new bone form formation in femoral shaft in bone crisis or pseudoosteomyeltic form;
- aseptic necrosis of femoral heads, bone infarcts, & pathologic frx of long bone are all frequent complications;
- references:
- Image Challenge: NEJM

- MRI:
- decreased T2 signal is seen in the marrow of long bones, vertebrae, & hips and is related to the areas of marrow infiltrated by Gaucher's lipids;


- Treatment:
- b-glucosidase mannose substitution:
- mannose substitution to the enzyme glucosidase allows it to enter macrophages and destroy lipid;
- destroys the accumulated glucocerebroside in the lysosomal body;

- pathologic frx:
- frx related to pathologic weakening of skeleton secondary to Gaucher's involvment are best treated conservatively;
- frxs are esp common in young children;
- frx proximal end of femur may occur in children & adults;
- these may be treated non operatively although there may be w/ some varus deformity;
- bone crisis:
- most patients are managed w/ brief bed rest and analgesics, which is followed by crutches as tolerated;
- AVN:
- no effective treatment or preventative measures;
- most patients are managed w/ brief bed rest and analgesics which is followed by crutches as tolerated;
- total hip replacement:
- increased risks of infection & bleeding
- increased loosening of prosthetic components

References