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Lesions lips, patient with hemorrhagic hereditary telangiectasia. Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain.
Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) Ataxia–telangiectasia Sturge–Weber syndrome , a nevus formation in the skin supplied by the trigeminal nerve and associated with facial port-wine stains, glaucoma , meningeal angiomas and intellectual disabilities
Treatment options are limited and usually include lifelong immunoglobulin replacement therapy. [24] This therapy is thought to help reduce bacterial infections. This treatment alone is not wholly effective, and many people still experience other symptoms such as lung disease and noninfectious inflammatory symptoms.
There is no cure for EMD, but symptoms can be managed. Some symptom management includes eating slower and taking smaller bites; in some cases medications can be useful to manage other issues that contribute to EMD such as a proton pump inhibitor to ease gastroesophageal reflux (acid reflux), or a smooth muscle relaxant for issues with the muscles.
CREST syndrome, also known as the limited cutaneous form of systemic sclerosis (lcSSc), is a multisystem connective tissue disorder.The acronym "CREST" refers to the five main features: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber disease; Hilbert–Huang transform; Hiphop Tamizha, an Indian musical duo; Historic House Trust of New York City; Historic Houses Trust, New South Wales; Omega-hydroxypalmitate O-feruloyl transferase, an enzyme; Howard Thompson (film critic), who wrote under the pen name HHT
Hypogammaglobulinemia is an immune system disorder in which not enough gamma globulins are produced in the blood (thus hypo-+ gamma + globulin + -emia).This results in a lower antibody count, which impairs the immune system, increasing risk of infection.