About lindau disease
What is lindau disease?
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 symptoms for lindau disease?
Neck stiffness symptom was found in the lindau disease condition
Von Hippel-Lindau disease-related tumors can grow in many different parts of the body. Hence there isn’t one primary symptom. Depending on the size and location of tumors, you may experience symptoms such as:
- Abnormality of the eye: Any abnormality of the eye, that includes location, spacing, and intraocular abnormalities.
- Hypertension: The presence of chronic increased pressure in the systemic arterial system.
- Abdominal pain: Pricking, throbbing, or aching physical discomforts or sensations in the abdominal part of the body and perceived to originate in the abdomen.
- Anxiety: Sudden feeling of nervousness, tenseness, or panic, feeling fearful, apprehensive, or threatened by uncertainty, worrying about the negative effects of past unpleasant experiences and future negative possibilities, fears of falling apart or losing control.
- Headache: Experiencing pain/Cephalgia sensed in various parts of the head, not confined to the area of distribution of any nerve.
- Retinal detachment: Separation of the inner layers of the retina (neural retina) from the pigment epithelium.
- Increased intracranial pressure: Increased pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.
- Other symptoms include hearing loss or ringing in the ears (tinnitus), high blood pressure, loss of balance, loss of muscle strength or coordination, Vomiting and vision problems.
What are the treatments for lindau disease?
People with the rare inherited von Hippel-Lindau disease are at a higher risk of developing cancerous and noncancerous tumors in multiple organs.
- Surgery or radiation therapies are the two most commonly used treatments for von Hippel-Lindau Disease and associated problems.
- The choice of treatment depends on the location of the tumor or cyst and the resulting problems.
- Endolymphatic sac tumors are usually removed through minimally invasive surgery or radiation therapy.
- Large and fast-growing Hemangioblastoma (a type of noncancerous tumor in the brain or spinal cord) is also treated through surgery or focused-beam or stereotactic radiation therapy.
- Retinal hemangioblastomas can be treated with laser photocoagulation or cryotherapy.
- Surgery is also the main treatment for pheochromocytomas. It involves partial or complete removal of the adrenal gland.
- Minimally invasive laparoscopic surgery can also be an option depending on the case. However, sometimes, if the tumor is small or slow-growing or is located in sensitive areas, where treatment may cause damage, the doctor advises not to get it treated, but rather restrict its growth.
- FDA has also approved a new drug called belzutifan (Welireg) to treat adults with several tumors associated with VHL.
- More specifically, it is approved for use in the case of renal cell carcinoma (a type of kidney cancer), central nervous system hemangioblastomas, and pancreatic neuroendocrine tumors.
What are the risk factors for lindau disease?
Risk factors associated with Lindau disease include:
- If you have a close relative with VHL, your chances of getting the disease are 50% because VHL is an inherited condition.
- Every cell has VHL. It is a tumor-suppressor gene. But, mutations in the gene cause tumors to go out of control. As a result, tumors start developing in different parts of the body.
- People who inherit VHL mutation will eventually acquire a mutation in the second copy of the gene in some cells, leading to the features of von Hippel-Lindau syndrome.
- A patient with the condition will have symptoms of von Hippel-Lindau disease by the time, they are 65.
- If risk factors for death due to VHL are considered, some studies suggest that onset age, family history, mutation type, and first presenting symptom affect the survival of patients with VHL disease.
- Lindau disease affects males and females and all ethnic groups equally and occurs in all parts of the world.