Tag: healthcare advocacy

  • Transthyretin Familial Amyloid Polyneuropathy

    Transthyretin Familial Amyloid Polyneuropathy: Definition and Description of Transthyretin Familial Amyloid Polyneuropathy: Transthyretin Familial Amyloid Polyneuropathy (ATTR-FAP) is a rare hereditary disorder caused by the accumulation of amyloid proteins in various tissues and organs, particularly affecting peripheral nerves. ATTR-FAP is related to the misfolding of transthyretin (TTR), a protein produced by the liver that is…

  • Homozygous Alpha-1-Antitrypsin Deficiency

    Homozygous Alpha-1-Antitrypsin Deficiency Definition and Description of Homozygous Alpha-1-Antitrypsin Deficiency Homozygous Alpha-1-Antitrypsin Deficiency (AAT deficiency) is a genetic disorder characterized by the lack of a protein called alpha-1-antitrypsin (AAT) that protects the lungs and liver from damage. Individuals with this deficiency have significantly lower levels of AAT, which can lead to various health issues, particularly…

  • Classic Type Pfeiffer Syndrome

    Classic Type Pfeiffer Syndrome Definition and Description of Classic Type Pfeiffer Syndrome Classic Type Pfeiffer Syndrome is a congenital disorder characterized by the premature fusion of certain cranial sutures, leading to an abnormal head shape and facial features. This condition falls under the category of syndromic craniosynostosis and primarily affects the skull, resulting in a…