ABSTRACT
OBJECTIVE: To review the diagnosis and clinical course of a woman with hypophosphatasia who is being treated with newly approved enzyme replacement therapy, asfotase alfa. METHODS: Clinical and laboratory data are presented. RESULTS: This is a unique report of a woman with debilitating adult-onset hypophosphatasia who was successfully diagnosed with low alkaline phosphatase (ALP) levels and elevated vitamin B6 levels. Treatment with asfotase alfa resolved her chronic bony pain symptoms and quadrupled her daily pedometer step count. Furthermore, whole body scans before and after treatment showed less focal uptake overall, suggesting fracture healing after enzyme replacement therapy. CONCLUSION: Improvement in patient reported symptoms, daily pedometer count, and whole body scans was noted after treatment of adult-onset hypophosphatasia with asfotase alfa enzyme replacement therapy. The significance of increased ALP levels after treatment is currently unknown.
ABSTRACT
A 60-year-old African-American male presented to the emergency department with abdominal pain and distention associated with decreased appetite and weight loss for several weeks. A computed tomography (CT) scan of the abdomen and pelvis showed an 8 cm mesenteric mass with surrounding stranding and poorly defined borders. The patient underwent exploratory laparotomy and complete resection of the mass since the frozen section could not give a definite diagnosis. Histopathology showed fibro-adipose tissue with lymphoid hyperplasia, vague nodular collections of foamy histiocytes with giant cell reaction, marked chronic inflammation, fat necrosis, and prominent sclerosis/fibrosis. Methenamine silver and acid-fast stains were negative for fungal and mycobacterial organisms respectively. Examination of tissue with immunohistostains showed increased immunoglobulin G4 (IgG4)-positive plasma cells. Other features observed were scattered areas of phlebitis, pockets of tissue eosinophilia, and focal storiform fibrosis leading to the diagnosis of IgG4-related sclerosing mesenteritis. The patient did not require steroids after the surgical resection and was disease free at six-month follow up.
