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OBJECTIVE: Hypophosphatasia (HPP) is a rare inherited metabolic bone disease from deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Reportedly, teriparatide (parathyroid hormone 1-34) can benefit the adult form of HPP, including fracture healing. We studied 2 women with adult HPP given teriparatide and reviewed the reports of 6 additional patients. METHODS: A 68-year-old black woman (patient 1) described low-trauma fractures and had subnormal serum alkaline phosphatase (ALP) activity. Biochemical findings were consistent with HPP. Mutation analysis revealed a heterozygous defect in exon 10 of TNSALP (ALPL). Teriparatide was injected daily for 2 years. Four years later, she fractured her right hip. Treatment was resumed for 8 months without further fractures. A 53-year-old white woman (patient 2) reported low-trauma fractures and had subnormal serum ALP. Mutation analysis revealed a heterozygous defect in exon 8 of TNSALP. She injected teriparatide daily for 2 years. One year later, bone mineral density (BMD) declined and treatment was resumed for 3 months. When she sustained a sacral fracture, teriparatide was administered for a further 18 months. RESULTS: Patient 1's serum ALP increased while receiving teriparatide and returned to baseline after its discontinuation. BMD remained unchanged, but no fractures were sustained. Patient 2's serum ALP increased, but the improvement was not sustained. Femoral neck BMD increased significantly during the first cycle, declined significantly afterwards, and was regained during a second course of teriparatide. CONCLUSION: Teriparatide shows some benefit for adult HPP. ABBREVIATIONS: ALP = alkaline phosphatase BMD = bone mineral density BSAP = bone-specific alkaline phosphatase CTX = C-telopeptide DXA = dual-energy X-ray absorptiometry FN = femoral neck HPP = hypophosphatasia LS = lumbar spine PEA = phosphoethanolamine PLP = pyridoxal 5'-phosphate PTH = parathyroid hormone SQ = subcutaneous TNSALP = tissue-nonspecific isoenzyme of alkaline phosphatase TPTD = teriparatide.

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Tumors or chronic inflammatory lesions of the occipital condyle may cause occipital pain associated with an ipsilateral hypoglossal nerve injury (occipital condyle syndrome). We describe a young woman with recurrent otitis media and occipital condyle syndrome associated with a limited form of Wegener's disease.

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Adult-onset Still disease (AOSD) is an inflammatory condition of unknown etiology that responds to glucocorticosteroids and disease-modifying antirheumatic drugs, particularly methotrexate. However, disease refractory to conventional treatment has led to the reported use of biologic therapy including tumor necrosis factor α inhibitors (infliximab, etanercept, and adalimumab), anakinra, rituximab, and tocilizumab. We report the successful use of abatacept in the treatment of a patient with AOSD manifested by polyarthritis, rash, fevers, elevated liver function tests, and ferritin levels refractory to treatment with methotrexate and hydroxychloroquine. Remission has been maintained for 35 months with the addition of abatacept administered once monthly. There is evidence that T-cell activity plays an important role in the autoimmune activity of AOSD, and modulation of CD28 costimulation of T cells by abatacept has specific immunosuppressive actions that make it an appealing alternative therapeutic option for refractory AOSD.

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OBJECTIVE: To describe the effects of 24 months of teriparatide therapy in an adult with hypophosphatasia, which thus far has no established medical treatment. METHODS: A 75-year-old woman with hypophosphatasia was treated with ergocalciferol and calcium supplements for 2 years. She had sustained multiple spontaneous and low-trauma fractures since she was 10 years old. Baseline biochemical values (and reference ranges) were as follows: serum total alkaline phosphatase ranged from 14 to 17 U/L (30 to 110), bone-specific alkaline phosphatase (BSALP) was 5 U/L (14 to 43), serum phosphorus was elevated at 5.4 mg/dL (2.6 to 4.4), and pyridoxal 5'-phosphate was high at 250 ng/mL (5 to 30). At baseline, she had mild secondary hyperparathyroidism (intact parathyroid hormone, 76 pg/mL; reference range, 10 to 65), which was corrected by the calcium supplementation and vitamin D therapy. Dual-energy x-ray absorptiometry (DXA) scanning in 2003 showed L1-L4 bone mineral density (BMD) of 0.786 g/cm2, T score of -3.3, and Z score of -1.7; DXA also showed femoral neck BMD of 0.740 g/cm2, T score of -2.5, and Z score of -0.5. During walking, the patient sustained a low-trauma fracture in a metatarsal. Teriparatide, synthetic parathyroid hormone(1-34), in a dosage of 20 microg subcutaneously was given daily from April 2004 until June 2006. RESULTS: After about 1.5 years of teriparatide therapy, BSALP reached the lower end of the reference range at 16 U/L, and after 24 months of continuous teriparatide treatment, both serum total alkaline phosphatase and BSALP normalized at 30 U/L and 18 U/L, respectively. Pyridoxal 5'-phosphate declined from a baseline of 250 to 188 ng/mL after 17 months of treatment. Urinary N-telopeptide increased from a baseline of <6 to 19 after 17 months and to 70 bone collagen equivalents/mmol creatinine after 24 months of anabolic therapy. Repeated DXA scanning showed a substantial improvement in lumbar spine BMD and stability in hip BMD. The patient experienced no clinical fractures or adverse events during teriparatide therapy. CONCLUSION: In one woman with adult hypophosphatasia, 2 years of teriparatide treatment improved biochemical markers of bone remodeling and increased skeletal mineralization. Teriparatide may prove to be a viable treatment for adult hypophosphatasia; thus, this intervention warrants further evaluation.

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HYPOTHESIS: Rheumatoid arthritis is a common disabling form of arthritis that frequently affects the hands and feet. With time, the majority of affected individuals will become disabled. METHODS: Sixty-nine consecutively selected mild to moderately affected individuals with rheumatoid arthritis provided demographic data and agreed to complete the Short Musculoskeletal Function Assessment (SFMA) instrument. Focus group subjects selectively used minimally adaptive nonprescription footwear. Control subjects had similar disease expression, but did not alter their choice of footwear due to their disease. RESULTS: Adult patients with rheumatoid arthritis demonstrate a significant negative impact on their quality of life with mild or moderate disease expression, as evidenced by poor scores in all six domains of the SFMA. Subjects who used even mildly adaptive nonprescription footwear demonstrated a statistically significant negative impact in mobility (p < .044) and functional index (p < .052) domains as compared with the control population having similar overall disease expression. Focus subjects also demonstrated a trend to less favorable scores in the arm and hand domain. Mean scores of the daily activity, emotional status, and bother index domains fared worse than population norms, but there was no statistical difference between subjects using, or not using, adaptive footwear. CONCLUSIONS: Individuals affected with mild to moderate rheumatoid arthritis are disabled as compared with the general population. There is a severe negative impact on mobility and functional capacity when the disease process begins to affect their feet.

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Patients with uveitis such as the patient whose case is reported here are often referred to rheumatologists for investigation of possible underlying systemic diseases. This patient presented with decreased vision, photophobia, weight loss, and fevers and was found to have uveitis, elevated creatinine, and interstitial nephritis. This raised consideration of a variety of systemic diseases before she was determined to have the tubulointerstitial nephritis with uveitis (TINU) syndrome. The TINU syndrome, although known to some ophthalmologists and nephrologists, is still rather obscure. Uncommon but not rare with 133 cases in the literature, TINU syndrome should be one more diagnosis to be considered in patients with uveitis. The median age of onset is 15, but it ranges from 9 to 74. There is a 3:1 female preponderance. Response to corticosteroids, which are used in 80% of reported cases, is rapid. The prognosis for the renal disorder is excellent, although the uveitis often recurs or remains chronic.