Tag: health awareness

  • Alpha-1

    Alpha-1 Definition and Description of Alpha-1 Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic disorder characterized by insufficient levels of the protein alpha-1 antitrypsin (AAT), which plays a crucial role in protecting the lungs and liver from damage. This deficiency can lead to various health complications, particularly affecting respiratory and liver functions. AAT is produced in…

  • Apert Syndrome

    Apert Syndrome Definition and Description of Apert Syndrome Apert Syndrome is a congenital disorder characterized by the premature fusion of certain skull bones, known as craniosynostosis. This condition affects the development of the skull, which can lead to an abnormal head shape and facial features. Individuals with Apert Syndrome may also experience fusion of fingers…

  • Appalachian Type Amyloidosis

    Appalachian Type Amyloidosis Definition and Description of Appalachian Type Amyloidosis Appalachian Type Amyloidosis is a rare form of amyloidosis characterized by the deposition of abnormal proteins, known as amyloid fibrils, in tissues and organs. This condition is particularly prevalent in certain regions of the Appalachian Mountains, hence its name. Amyloidosis can severely affect various organ…

  • APS

    APS Definition and Description of APS Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by the presence of antiphospholipid antibodies that lead to an increased risk of blood clots. This condition can cause significant complications such as deep vein thrombosis, pulmonary embolism, strokes, and pregnancy-related complications, including miscarriage. The discovery of these antibodies in a…

  • Alexander Disease

    Alexander Disease Definition and Description of Alexander Disease Alexander Disease is a rare and progressive neurological disorder that primarily affects the myelin sheath, which is the protective covering surrounding nerve fibers in the central nervous system. This disease is characterized by the accumulation of abnormal proteins known as Rosenthal fibers in glial cells, which disrupts…

  • Achalasia

    Achalasia Definition and Description of Achalasia Achalasia is a rare esophageal disorder characterized by the inability of the lower esophageal sphincter (LES) to relax properly. This malfunction prevents food and liquid from passing into the stomach, leading to various complications. The term “achalasia” is derived from the Greek words “a-” meaning “without,” “chalasis,” meaning “relaxation.”…

  • Achondroplasia

    Achondroplasia Definition and Description of Achondroplasia Achondroplasia is a genetic disorder characterized by an abnormality in bone growth, leading to dwarfism. It is one of the most common forms of skeletal dysplasia and is caused by mutations in the FGFR3 gene (fibroblast growth factor receptor 3). This condition typically results in disproportionate short stature, with…

  • Agnogenic Myeloid Metaplasia (AMM)

    Agnogenic Myeloid Metaplasia (AMM) Definition and Description of Agnogenic Myeloid Metaplasia (AMM) Agnogenic Myeloid Metaplasia (AMM), often referred to as myelofibrosis, is a rare bone marrow disorder that disrupts the body’s normal production of blood cells. It is categorized as a type of chronic myeloproliferative neoplasm (MPN). In AMM, the bone marrow becomes fibrotic, leading…

  • AAT Deficiency

    AAT Deficiency Definition and Description of AAT Deficiency AAT deficiency, or Alpha-1 Antitrypsin Deficiency, is a genetic disorder characterized by low levels of alpha-1 antitrypsin (AAT), a protein produced by the liver that protects the lungs and other organs from damage caused by enzymes released by white blood cells. This deficiency can lead to various…

  • Abdominal Migraine

    Abdominal Migraine Definition and Description of Abdominal Migraine Abdominal Migraine is a type of migraine that predominantly affects children and manifests through recurrent episodes of abdominal pain. Unlike classic migraines, Abdominal Migraine does not necessarily involve head pain. The discomfort often presents as intermittent pain in the stomach area, which may be accompanied by nausea,…