View clinical trials related to Telangiectasis.
Filter by:Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler's disease, is a genetic disorder that leads to abnormal blood vessel formations. It primarily affects blood vessels in the skin, mucous membranes, and internal organs. The disease can be clinically diagnosed using the Curaçao criteria (1. Positive family history of HHT, 2. Recurrent and spontaneous epistaxis, 3. Multiple typical telangiectasias, 4. Organ involvement with vascular malformations, especially in the liver, lungs, gastrointestinal tract, or brain); if a patient meets at least 3 criteria, the diagnosis of HHT can be established. Patients with HHT often have telangiectasias on their faces. Additionally, many patients suffer from anemia, which can result in a pale and potentially tired appearance. Patients with HHT may be less satisfied with their appearance due to the aesthetic changes in their faces and may also experience psychosocial impairment. To further investigate this, various validated questionnaires (FACE-Q©, PROMIS-Profile-29+2, EQ5D), as well as routinely collected clinical data (e.g., laboratory values including hemoglobin levels, Curaçao criteria, smoking status, alcohol consumption, and the Epistaxis Severity Score (ESS)) will be used.
Ataxia telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility. Currently there are no curative therapy options. The clinical presentation of the disease has a wide variety is linked to the proven mutation, immunological status and residual ATM kinase activity. Apart from these prognostic markers, hardly any biomarker to predict disease course is available. Aim of the present proposal is to evaluate serum concentrations of neurofilament - light chain in the serum of whole blood as biomarker of neurodegeneration prospectively. In addition to that, the investigators will examine the evolution of neurofilament - light chain longitudinally by blood samples from our biobank as well as the concentration of neurofilament - light chain in cerebrospinal fluid (CSF) of affected A-T patients from our biobank. As in other neurodegenerative disorders and ataxias, the investigators expect that neurofilament- light chain levels are increased in the A-T cohort and correlated to the neurological status of A-T patients evaluated by means of AT-score.
Studying the results of treatment of dilated vessels of the lower limbs with laser, and compare them to those obtained with sclerotherapy.