A genetic form of angioedema due to C1-inhibitor deficiency (HAE-C1-INH). A rare, autosomal-dominant disease, HAE-C1-INH is characterized by recurrent attacks of marked, diffuse, nonpitting and nonpruritic skin swellings, painful abdominal attacks, and laryngeal edema. The extremities and the gastrointestinal tract are most commonly affected. Swelling of the upper respiratory mucosa poses the greatest risk because death from asphyxiation. Attacks are variable, may be the result of stress or physical trauma. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment may include a variety of medications and therapy.
- Hereditary atransferrinemia
A genetic disorder in which there is absence of transferrin, a plasma protein that transports iron through the blood. Atransferrinemia is characterized by anemia and hemosiderosis (iron deposition) in the heart and liver. The iron damage to the heart can lead to heart failure. The anemia is typically microcytic and hypochromic (the red blood cells […]
- Hereditary hemorrhagic telangiectasia
A genetic disease characterized by the presence of multiple direct connections between arteries and veins called arteriovenous malformations (AVMs). Small AVMs, or telangiectases, close to the surface of skin and mucous membranes often rupture and bleed after slight trauma. Abbreviated HHT. The most common manifestations of HHT are recurrent nosebleeds beginning at about 12 years […]
- Hereditary kidney cancer
von Hippel-Lindau syndrome Birt-Hogg-Dube syndrome Hereditary papillary renal cell carcinoma All of these syndromes are inherited in an autosomal dominant manner.
- Hereditary mixed polyposis syndrome
(HMPS) A cancer family syndrome characterized by the development of a variety of different types of polyps in the colon, including atypical juvenile polyps and adenomas of the colon, and by the development of colorectal carcinoma (cancer of colon and rectum). HMPS is inherited in an autosomal dominant manner. The HMPS gene locus is on […]
- Hereditary mutation
A gene change that occurs in a germ cell (an egg or a sperm) and is then incorporated into every cell in the developing body of the new organism. Hereditary mutations play a role in cancer, as, for example, in the eye tumor retinoblastoma and Wilms’ tumor of the kidney. Also known as germline mutation.