Worthy of note are a few features present in our patient and not described in the other patients with MAGEL2 mutations. [nature.com]

Autoimmune enteropathy is primarily diagnosed in children presenting with intractable secretory diarrhea and villous atrophy. Autoimmune enteropathy is occurs as a result of antibodies directed against intestinal epithelial and goblet cells. [emedicine.medscape.com]

Baseline echocardiography is not recommended based on these findings alone but depend on other symptoms and differential diagnoses upon presentation. [onlinelibrary.wiley.com]

• Amyloidosis

  […] seen in intestinal resection of intestinal bypass Damaged absorbing surface, as seen in celiac sprue, tropical sprue, Crohn disease, AIDS enteropathy, chemotherapy, or radiation therapy Infiltrating disease of the intestinal wall, such as lymphoma and amyloidosis [emedicine.medscape.com]

• Whipple Disease

  chemotherapy, or radiation therapy Infiltrating disease of the intestinal wall, such as lymphoma and amyloidosis Infections, including bacterial overgrowth, giardiasis, Whipple disease, cryptosporidiosis, and microsporidiosis Postabsorptive phase Obstruction [emedicine.medscape.com]

• Diarrhea

  Autoimmune enteropathy is primarily diagnosed in children presenting with intractable secretory diarrhea and villous atrophy. Autoimmune enteropathy is occurs as a result of antibodies directed against intestinal epithelial and goblet cells. [emedicine.medscape.com]

  The clinical symptoms of MCAS include flushing, pruritis, hypotension, asthma, diarrhea, abdominal bloating, and cramping. [onlinelibrary.wiley.com]

• Thrombosis

  Inadequate mixing of nutrients, bile, and pancreatic enzymes, as seen in rapid intestinal transit, gastrojejunostomy, total and partial gastrectomy, or intestinal resection after mesenteric emboli or thrombosis, also causes impaired hydrolysis. [emedicine.medscape.com]

• Dermatitis

  Acrodermatitis enteropathica is an autosomal recessive disease with selective inability to absorb zinc, leading to villous atrophy and acral dermatitis. [emedicine.medscape.com]

Treatment of functional GI complaints in hEDS is problematic due to the absence of tailored strategies and an apparent resistance to pharmacologic treatments at standard dosages/regimens. [onlinelibrary.wiley.com]

Unfortunately, unlike the other types of EDS, hEDS has no known genetic etiology responsible for any significant portion of this population. [onlinelibrary.wiley.com]

Based on data obtained from a large epidemiological study undertaken on a population of 12,853, 3.4% had joint hypermobility and widespread pain which was been used as a proxy for hEDS [Mulvey et al., 2013]. [onlinelibrary.wiley.com]

There was also an increase in retro‐odontoid pannus formation, a pathophysiologic process thought to represent abnormal stress of the transverse ligament. [onlinelibrary.wiley.com]

Pain Primary prophylaxis and treatment of nociceptive pain relies upon physical approaches to improve joint stability and prevent or reduce myofascial spasm. [onlinelibrary.wiley.com]