Thelansis

  Abnormal activation of the complement system due to biallelic loss-of-function mutations in CD55 leads to CHAPLE syndrome, characterized by hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy. The main symptoms of CHAPLE disease include hypoproteinemia, malabsorption syndrome, complement overactivation, bowel inflammation, and increased susceptibility to visceral thrombosis. The disease typically presents in early childhood with gastrointestinal symptoms, such as diarrhea, vomiting, and GI discomfort, as well as facial and extremity edema due to hypoalbuminemia and failure to thrive. Hypoalbuminemia is the most common finding in CHAPLE disease and can be severe, with serum values below 1 g/dl possible. However, the long-term prognosis is unpredictable, as abrupt relapses can occur even after prolonged periods of remission.   Thelansis’s “CHAPLE Syndrome Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2...

 Abnormal activation of the complement system due to biallelic loss-of-function mutations in CD55 leads to CHAPLE syndrome, characterized by hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy. The main symptoms of CHAPLE disease include hypoproteinemia, malabsorption syndrome, complement overactivation, bowel inflammation, and increased susceptibility to visceral thrombosis. The disease typically presents in early childhood with gastrointestinal symptoms, such as diarrhea, vomiting, and GI discomfort, as well as facial and extremity edema due to hypoalbuminemia and failure to thrive. Hypoalbuminemia is the most common finding in CHAPLE disease and can be severe, with serum values below 1 g/dl possible. However, the long-term prognosis is unpredictable, as abrupt relapses can occur even after prolonged periods of remission. Thelansis’s “CHAPLE Syndrome Market Outlook, Epidemiology, Competitive Landscape , and Market Forecast Report – 2021 To 2032...