About 2,700 patients were diagnosed with telangiectasia each year in the United States. In an article titled "Holiday Hiccups: Why Parents Call Pediatricians About their Children's Illnesses" published in the December 19, 2004, issue of the "Journal of the American Medical Association", a survey was conducted to identify, and characterize the demographics of those diagnosed with telangiectasia in the period from March 7 to July 7, 2004. Of the 5,200 respondents interviewed, 54% were White, 24% Black, 9% Hispanic, and 9% from other ethnic/racial groups.
Recent findings provides further data on the mechanism of telangiectasia, hereditary hemorrhagic type. The observation of abnormal capillarization, which was most obvious in the lower dermis and skinfold dermis, might have a role in the pathogenesis of telangiectasia, hereditary hemorrhagic.
The disorder is often detected at birth, or shortly after, and is characterized by telangiectasia, bruises, ecchymoses or hemorrhages, with or without telangiectasia, bleeding disorders, and variable growth. Telangiectasia, hereditary hemorrhagic telangiectasia, is a rare autosomal recessive disorder characterized by progressive telangiectasias of the skin, mucous membranes, eyes, and skeleton, and associated bleeding or hemorrhagic disorders.
The current understanding of the pathophysiology of telangiectasias points to therapies that target the molecular mechanisms that regulate telangiogenesis. The goal of therapy in hereditary hemorrhagic telangiectasia is to slow telangiogenesis (increased new vessel formation) in peripheral blood and/or bone marrow microvasculature, thereby reducing bleeding and restoring blood volume in the affected person. This strategy may be effective if blood pressure is not dangerously low. Potential treatments for hereditary hemorrhagic telangiectasia include agents that inhibit telangiogenesis, such as vascular endothelial growth factor (VEGF) inhibitors and anti-platelet agents, as well as agents to reduce the frequency and severity of bleeding episodes.
In most patients with the signs of telangiectasia, a diagnosis of hereditary hemorrhagic telangiectasia can be made with confidence. Telangiectasis can have different appearances, from a well-defined area to generalized telangiectasia.
The telangiectasia family mutation, TGFBR1, in carriers has been shown to be a key modifier of telangiectasia disease phenotype and penetrance. TGFBR1 genotypes also predict clinical cancer risk and can be used to predict treatment response to anti-angiogenic drug therapy for a subset of cancer patients. This raises the important question of whether the TGFBR1 mutation can be successfully prevented in carriers. Clinical presentation of the patients with TGFBR1, TAL1, and TAR syndrome were evaluated. Patients with TGH/HBB mutation demonstrated significantly lower levels of telangiectasia and lower genotyping results compared to patients without TAL1 or TAR mutations.
The family history may provide a clue to genetic investigation. Telangiectactic and telangiastatic phenotype in the context of hemostasis defects should lead genetic analysis towards B12 allele identification. To validate the role of this allele in HH, more families are needed to confirm the observation.
Today we know there are some types of telangiectasia that respond to a specific drug, while other types do not. Still, we are beginning to discover drugs that could possibly help in the treatment of telangiectasia. One such drug, bevacizumab, is currently being used to treat retinal vascular diseases that do not respond to other drugs. In most cases, the only treatment for telangiectasia is supportive in nature.
Currently, the most effective [and safest] treatment for wet AMD is laser photocoagulation therapy; however, this option is unavailable to about half of all people with wet AMD. Moreover, current laser technology is inadequate for many patients to visualize their retina [even if they do have good optic acuity]. One alternative treatment for patients with wet AMD is bevacizumab injections (Bexxar), which are now routinely used in ophthalmology clinical settings.
VEGF was upregulated in patients taking bevacizumab (but not those taking bevacizumab plus placebo). Recent findings do not support the hypothesis that the effects of bevacizumab can be explained solely by a treatment-induced enhancement of the pro-angiogenic factor, VEGF.
The clinical trial results are not sufficiently positive for telangiectasia, hereditary hemorrhagic with short stature to justify clinical trial for this condition. These trials are needed to identify the treatment benefit and side effect risk.