Appeal type: Experimental/Investigational
Decision: Overturned

Physician 1The patient is a 65-year-old woman who has been diagnosed with Gauchers disease type I. The patient has been receiving enzyme replacement therapy for several years. She underwent a left knee replacement one year ago for unknown reasons with some residual tenderness noted three months later. The submitted notes indicate there was a small area of avascular necrosis at the superior aspect of the right femoral head seen on an MRI performed in May 2003. This was presumably a stage I lesion since it was not seen on x-ray. X-rays of the spine, hips, and knees show only minimal disc and degenerative joint changes without fractures, lytic lesions or deformities such as the Erlenmeyer flask deformity classic for Gauchers disease. DEXA scans of the spine and hip for bone mineral density reveal normal T scores compared to young adult women and no evidence of osteoporosis. The patients provider has recommended the patient receive Aredia for osteoporosis, avascular necrosis and marrow infiltration. The Health Plan has denied authorization for the requested medication indicating Aredia is considered experimental for treatment of the patients medical condition.Patients with Gauchers disease often develop generalized osteoporosis and local painful bone crises, avascular necrosis, and fracture due to local Gaucher cell bone marrow infiltration. This patient with presumed Gauchers disease type I has no evidence of osteoporosis on DEXA scan. With the possible exception of a small stage I osteonecrotic lesion at the superior aspect of the right femoral head ten months ago, there is no evidence of marrow infiltration or any bone deformity or fracture. Thus, treatment with enzyme replacement therapy alone may reverse bone marrow infiltration though it takes several years and is not as effective as the results seen in other visceral organs. Antiresorptive therapy with bisphosphonates has been utilized in some children and adults with severe generalized and local skeletal involvement with some success in decreasing bone crises and recurrent fractures.  It is unlikely that high dose pamidronate therapy (i.e., Aredia) would benefit this patient who exhibits no evidence of osteoporosis, bone crises or fractures. Asymptomatic stage I osteonecrosis is best treated conservatively. If there is progression, core decompression or osteotomy could be attempted. Bisphosphonates have no role in non-steroid induced aseptic necrosis.Based upon the information set forth above, I have determined that the requested medication is not likely to be more beneficial for treatment of the patients medical condition than any available standard therapy. Therefore, the Health Plans denial should be upheld.  Physician 2The patient is a 65-year-old woman with Gauchers disease, which has affected her bones such that she has osteoporosis, avascular necrosis of the right hip, and is post total knee replacement of her left knee. The patient is intolerant of oral bisphosphonates so the patients provider has recommended Aredia. The Health Plan indicates Aredia is considered experimental for this disease.Oral and intravenous bisphosphonates are clearly effective in stabilizing and reversing the bone loss seen in a host of conditions including benign and malignant osteoporosis, Pagets disease, multiple myeloma, breast and prostate cancer, etc. A large trial to demonstrate similar benefits in Gauchers disease would be difficult if not impossible to accomplish due to the rarity of the disease. However, there are sufficient data cited in Gauchers patients to reasonably conclude similar benefits can be seen in Gauchers disease. Furthermore, gastrointestinal intolerance to oral bisphosphonates is common and a frequent cause of patient discontinuance. Aredia, an intravenous bisphosphonate, is a medically reasonable alternative.Based upon the information set forth above, I have determined that the requested medication is likely to be more beneficial for treatment of the patients medical condition than any available standard therapy. Therefore, the Health Plans denial should be overturned.Physician 3The patient is a 65-year-old woman with Gauchers disease and evidence of fairly severe osteoporosis. The submitted materials indicate the patient cannot tolerate an oral bisphosphonate due to gastrointestinal distress. It has been proposed that she be given regular intravenous Aredia. The Health Plan has denied authorization for Aredia indicating it is considered experimental for treatment of the patients diagnosis.Gauchers disease is a genetic disorder caused by a specific enzyme deficiency. It can cause severe problems with bone structure despite treatment with the enzyme itself. Though there are not a large number of studies documenting the use of bisphosphonates (drugs that inhibit osteoclasts and therefore prevent bone destruction), these drugs have anecdotally been often used in Gauchers disease. Certainly, bisphosphonates are used often in osteoporosis generally, as is documented in the submitted medical literature. Although most patients are treated with oral Fosamax, it is medically reasonable to use intravenous Aredia in those patients who cannot tolerate Fosamax. Based upon the information set forth above, I have determined that the requested medication is likely to be more beneficial for treatment of the patients medical condition than any available standard therapy. Therefore, the Health Plans denial should be overturned.