Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria

    January 2014 in “ International Journal of Clinical Medicine ”
    Monem Makki Alshok
    TLDR Premature aging increases the risk of immune problems and autoimmune diseases.
    The document described two cases of progeria, a rare genetic disorder causing rapid aging in children, and its association with autoimmune diseases and acquired von Willebrand disease (VWD). The first case involved a 21-year-old male with typical progeria symptoms, including growth retardation, skin changes, and alopecia, who developed mucocutaneous bullous eruptions and mild hyperlipidemia. His sister, also affected by progeria, suffered from autoimmune hemolytic anemia and died at 14. Molecular studies confirmed a mutation in the LMNA gene. The discussion highlighted that progeria patients might be susceptible to autoimmune disorders due to genetic immunological defects. Research on mouse models showed potential reversibility of progeria symptoms, offering hope for future treatments. The study concluded that genetic and autoimmune mechanisms underlie the observed conditions in progeria patients.
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