Tag: complications

  • Huntington’s Disease (HD)

    Huntington’s Disease (HD) Definition and Description of Huntington’s Disease (HD) Huntington’s Disease (HD) is a progressive neurodegenerative disorder caused by a genetic mutation in the HTT gene. This mutation leads to the production of a toxic protein, which gradually damages brain cells, particularly in areas that control movement, mood, and cognition. The condition typically manifests…

  • Hurler Disease

    Hurler Disease Definition and Description of Hurler Disease Hurler Disease, also known as mucopolysaccharidosis type I (MPS I), is a rare genetic disorder caused by the deficiency of an enzyme called alpha-L-iduronidase. This enzyme is crucial for breaking down certain complex carbohydrates, known as glycosaminoglycans (GAGs), in the body. The accumulation of these GAGs can…

  • Homocystinuria

    Homocystinuria Definition and Description of Homocystinuria Homocystinuria is a rare genetic disorder that results in an abnormal buildup of homocysteine in the blood. It is classified as an inherited metabolic disorder where the body is unable to properly process certain amino acids, particularly methionine, leading to elevated levels of homocysteine. This condition can result in…

  • 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…

  • Hormone Therapy for Endometriosis

    Hormone Therapy for Endometriosis Definition and Description of Hormone Therapy for Endometriosis Hormone therapy for endometriosis is a treatment option that involves the use of hormones or hormone-blocking medications to alleviate the symptoms associated with endometriosis. Endometriosis occurs when tissue similar to the lining of the uterus begins to grow outside of it, causing inflammation…

  • Horner’s Syndrome

    Horner’s Syndrome Horner’s Syndrome Definition and Description of Horner’s Syndrome Horner’s Syndrome, also known as oculosympathetic palsy, is a neurological condition characterized by a disruption in the sympathetic nerves supplying the eye and the muscles around the eye. This syndrome results in a classic triad of symptoms: ptosis (drooping of the eyelid), miosis (constricted pupil),…

  • Histiocytosis X

    Histiocytosis X Definition and Description of Histiocytosis X Histiocytosis X, now recognized as Langerhans cell histiocytosis (LCH), is a rare disorder characterized by an overproduction of Langerhans cells, which are a type of white blood cell that participates in the immune response. This condition can manifest in various forms, affecting both adults and children, and…

  • HIV

    HIV Definition and Description of HIV Human Immunodeficiency Virus (HIV) is a virus that attacks the body’s immune system, specifically targeting CD4 cells, which are crucial for fighting off infections. Without treatment, HIV can lead to the disease known as Acquired Immunodeficiency Syndrome (AIDS). The virus is primarily transmitted through blood, sexual contact, and from…

  • Hemorrhagic Telangiectasia, Hereditary (HHT)

    Hemorrhagic Telangiectasia, Hereditary (HHT) Definition and Description of Hemorrhagic Telangiectasia, Hereditary (HHT) Hemorrhagic Telangiectasia, Hereditary (HHT), also known as Osler-Weber-Rendu syndrome, is a genetic disorder characterized by the development of abnormal blood vessels. These blood vessels tend to be fragile and can lead to frequent nosebleeds, as well as other bleeding complications in various organs,…

  • Hereditary Angioedema

    Hereditary Angioedema Definition and Description of Hereditary Angioedema Hereditary Angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of severe swelling (angioedema) in various parts of the body. These episodes can span from the face, limbs, gastrointestinal tract, to the airways, leading to potential life-threatening complications. The swelling results from an imbalance in…