About hippel disease (hls)
What is hippel disease (hls)?
Von Hippel-Lindau syndrome (VHL) is an autosomal dominant genetic disorder characterized by the abnormal growth of blood vessels in certain parts of the body (angiomatosis). Very small blood vessels (capillaries) "knot" together to form benign growths known as angiomas or hemangioblastomas. These may develop in the retinas of the eyes (retinal hemangioblastomas) or in the brain or spinal cord, or in the inner ear (endolymphatic sac tumors). Vascular tumors may also occur in the kidneys (renal cell carcinoma), pancreas (cysts, microcystic cystadenomas, or pancreatic neuroendocrine tumors) and/or adrenal glands (pheochromocytoma). The symptoms of VHL vary greatly and depend on the size and location of the growths.
What are the causes for hippel disease (hls)?
Mutations in the VHL gene cause von Hippel-Lindau syndrome. The VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein. An altered or missing VHL protein cannot effectively regulate cell survival and division. As a result, cells grow and divide uncontrollably to form the tumors and cysts that are characteristic of von Hippel-Lindau syndrome.
What are the treatments for hippel disease (hls)?
Hippel disease (HLS) is a hereditary disorder characterized by tumors developing in many organs. It results from a VHL gene mutation (change). Hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and retina, are tumors associated with HLS. Retinal tumors, also known as retinal angiomas, can cause blindness if they are not promptly treated. Additionally, clear cell renal cell carcinoma (ccRCC), a particular form of kidney cancer, and pancreatic neuroendocrine tumor, a type of pancreatic tumor, are also more likely to occur in people with HLS (pNET). Occasionally, pheochromocytomas or tumors of the adrenal gland progress to metastasise.
Treatment
1. Hippel disease (HLS) associated tumors can be treated. There are many different treatments available according to different tumors. Some treatments are maintained below.
2. Belzutifan: Belzutifan (Welirang) has been approved by the Food and Drug Administration to treat adults with central nervous system hemangioblastomas and specific other tumors that do not require immediate surgery.
3. Surgery: Surgery is typically used to treat the majority of Hippel disease (hls) patients in order to remove tumors before they become dangerous. Focused high-dose radiation therapy can be used to treat some cancers.
Symptoms
Headaches,Hearing loss or ringing in the ears (tinnitus),High blood pressure,Loss of balance,Loss of muscle strength or coordination, omitting,Vision problems
Conditions
Hippel disease (HLS) is a hereditary disorder characterized by tumors developing in many organs,Hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and retina, are one type of tumor associated with HLS,Retinal tumors, also known as retinal angiomas, can cause blindness if they are not promptly treated
Drugs
Belzutifan,Welireg
Is there a cure/medications for hippel disease (hls)?
Hippel disease (HLS) is a rare genetic condition where tumors and cysts develop in specific body organs, including the adrenal glands, pancreas, kidney, reproductive tract, eyes, inner ear, brain, and spinal cord. Although most tumors are benign (not cancerous), some may be malignant (cancer). Patients with Hippel disease (HLS) are more likely to develop certain cancers, including pancreatic and kidney cancer. The syndrome's warning signs and symptoms typically don't show up until young adulthood. It results from a VHL gene mutation (change). HLS is also known as von Hippel-Lindau disease, VHL syndrome, or VHL.
Hippel disease (HLS) cannot be cured, although the accompanying tumors can be treated. A patient's diagnosis is considerably improved by early tumor identification and therapy.
Treatment
There is no cure available for Hippel disease (HLS), although the accompanying tumors can be treated. There are many treatments maintained below.
1. Belzutifan (Welireg) has been approved by the Food and Drug Administration to treat adults with central nervous system hemangioblastomas and specific other tumors that do not require immediate surgery.
2. Surgery is typically used to treat the majority of Hippel disease (HLS) patients in order to remove tumors before they become dangerous. Focused high-dose radiation therapy can be used to treat some cancers.
Symptoms
Headaches,Hearing loss or ringing in the ears (tinnitus),High blood pressure,Loss of balance,Loss of muscle strength or coordination, omitting,Vision problems
Conditions
Hippel disease (HLS) is a hereditary disorder characterized by tumors developing in many organs,Hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and retina, are one type of tumor associated with HLS,Retinal tumors, also known as retinal angiomas, can cause blindness if they are not promptly treated
Drugs
Belzutifan,Welireg