With the U.S. Food & Drug Administration’s approval in 2014 of asfotase alfa for replacement of tissue-non-specific alkaline phosphatase (TNSALP or TNAP) in juvenile-onset hypophosphatasia (HPP), rheumatologists have a responsibility to recognize the more subtle manifestations of this condition in adults to avoid missed treatment opportunities for fractures, dental loss and musculoskeletal pain. Hypophosphatasia is…
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease of immune dysregulation characterized by unchecked inflammatory responses leading to end-organ dysfunction. Primary HLH results from inherited mutations that impair the capacity for immune regulation; secondary HLH arises from the inappropriate response to an immune stimulus, such as infection, malignancy or autoimmunity. What is less well known is…
When evaluating patients with possible myopathic symptoms, rheumatologists must consider a rare, but important, group of inherited disorders: the metabolic myopathies. However, their diagnosis often remains a challenge. Early recognition of these primary metabolic myopathies is essential to help prevent disease morbidity and mortality from rhabdomyolysis. Here, we focus on the metabolic myopathies that present…