Symptomatic Management

Whereas in the past, splenectomy was frequently performed for the management of severe thrombocytopenia and/or for relief of mechanical compression by the greatly enlarged spleen, by removing the main reservoir for Gaucher cells, splenectomy may induce or aggravate liver and bone involvement. Today, splenectomy is rarely indicated.

Total joint replacement is the most important orthopedic intervention, both in the past and in the present, for patients with avascular necrosis of the joints who suffer from severe pain and disability.

A rare but severe manifestation is spinal cord compression caused by the collapse of one or more adjacent vertebral bodies; options of conservative management and surgical decompression have been employed to reduce pain, ameliorate neurological deficit, and correct gibbus formation. Conversely, among children with type III disease where the gibbous develops without destruction of vertebral bodies and with no impingement on the spinal cord, the main concern is compromised diaphragmatic excursion and secondary restrictive lung disease. In these latter cases, a brace may be required, although kyphosis may not be reversible.

ERT[10] with placental-derived enzyme, alglucerase (Ceredase®; Genzyme Therapeutics Inc.), or the recombinant form, imiglucerase (Cerezyme®, Genzyme Therapeutics Inc., MA), has proven to be safe and effective in more than 3000 patients worldwide. Reduction in organ volumes and improvement in hematological parameters have dramatically improved quality of life.

In a recent summary by the International Gaucher Registry, efficacy and safety profiles of ERT in over 1000 patients with 2-5 years of treatment were recorded.[11] For anemic patients, hemoglobin concentration increased to normal or near-normal within a year with sustained response through 5 years. Hepatomegaly decreased by 3040% over 2-5 years. Splenomegaly decreased by 50-60% over 2-5 years. In patients with bone pain/crises, 52% were pain-free after 2 years and 94% reported no additional crises.

The greatest advantages of ERT may prove to be early administration to children at risk for severe disease, thereby precluding significant visceral and bone involve-

The effect on bone density is preliminary and complicated by the impact of other genetic and environmental factors. Another option for clinical management of both bone loss and secondary bone pain is biphospho-nates, administered in conjunction with ERT, but which may be problematical for children and teenagers.

Infiltrative lung disease secondary to severe Gaucher disease in both children and adults may benefit from ERT. Nonetheless, pulmonary hypertension has been noted in some patients on ERT. Although a causal relationship with ERT has been difficult to prove, treatment withdrawal may be considered in patients who develop progressive primary-like pulmonary hypertension.[13]

Good clinical results have been axiomatic despite a wide range of ERT dosages and frequencies. However, ERT poses significant hardships to patients as it involves repeated intravenous infusions, usually once every 2 weeks, for life. In addition, the high cost limits the number of patients who can avail of this treatment, particularly in developing countries. Finally, the current formulation is incapable of crossing the blood-brain barrier, thereby circumscribing its value in patients with significant neurological manifestations.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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