P-18 Three Body Problem Patient: Ehler-Danlos Syndrome Combined With Hypophosphatasia And Fatty Acid Oxidation Defect

    January 2025 in “ JCEM Case Reports ”
    Hazal Salva, Di̇lek Gogas Yavuz
    TLDR Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
    This case study discusses a 27-year-old male with a complex medical history involving Ehler-Danlos syndrome (EDS), hypophosphatasia, and mastocytosis. The patient experienced low libido, hypoglycemia, and reduced hair growth, among other symptoms. Diagnosed with EDS at 22, he had joint hypermobility leading to dislocations and hypoglycemia due to a genetic mutation affecting fatty acid oxidation. Mastocytosis was indicated by elevated tryptase levels and a positive c-kit mutation. Hormonal evaluations revealed hypogonadotropic hypogonadism, and treatment with subcutaneous choriogonadotropin-alpha was initiated. Despite overlapping symptoms with osteogenesis imperfecta, no mutation for this condition was found. The study suggests that enzyme replacement therapy may help alleviate symptoms in such complex cases.
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