We also need a blood test for pancreatic enzymes and glucose. Typically, such studies are prescribed in all cases of retinal angiomatosis. They help differentiate Hippel-Lindau syndrome from retinopathy, neuropathy, and retinoblastoma. In addition, a regular examination of Levothyroxine from the age of 10, whose close relatives had kidney tumors, angiomas or hemangioblastomas, is mandatory. People with this condition need to see a doctor as soon as possible. Treatment of Hippel-Lindau syndrome is only surgical and symptomatic. But usually small tumors, less than 3 cm, if they do not cause any symptoms, are not removed. You just need to monitor their development and undergo regular examinations. Radiation therapy is also sometimes used to remove small tumors.
Tumors in the retina are treated with azure coagulation or cryotherapy. This helps maintain vision. Sometimes inhibitors of vascular endothelial growth are used in retinal angioma. In case of renal cell carcinoma, surgery is also indicated in case of a tumor larger than 3 cm. Usually, with early diagnosis, it is possible to save the kidney by removing only part of the damaged tissues. This is done through laparoscopy or ablation. If a pheochromocytoma is present, it must be removed. Since such a tumor can cause an increase in blood pressure, alpha-blockers are indicated before surgery.
Symptomatic therapy consists in the use of synthroid drugs. They are selected depending on the manifestations of the disease. In brain tumors, nootropic drugs are often prescribed to improve cerebral circulation, coordination of movements and balance. For tumors of the pancreas that caused fluctuations in blood glucose levels, hypoglycemic drugs are prescribed.
For a favorable course of the disease, it is necessary to constantly monitor the growth of existing tumors and the emergence of new ones. To do this, they regularly do MRI of the brain and spine. With late diagnosis and lack of treatment, complications may develop. Most often, retinal detachment or loss of vision occurs. And when tumors compress vital organs and cerebrovascular accident, Hippel-Lindau disease can be fatal.
Occasionally, aneurysms or angiomas may rupture. In this case, hemorrhage occurs in the brain or other organs. This, too, can be fatal. But the most common cause of death in patients is cerebellar hemangioblastoma. Usually life expectancy in people with Hippel-Lindau disease is 40-50 years.
Hippel-Lindau disease is a rather serious hereditary pathology. Multiple tumors that form with it can disrupt the functioning of many organs and even lead to the death of the patient. But if you identify the disease at an early stage, you can keep it under control and prevent serious complications. Now more than 100 mutations of this gene are known, leading to the appearance of tumors. Regular examination of children with an unfavorable family history helps to detect them in time.
The disease is hereditary, so its prevention is impossible. But it is recommended in families where the husband or wife is sick, before conceiving a child, consult a geneticist. In addition, after the birth of a baby, it is necessary to regularly examine him with an ophthalmologist, since most often in children the disease begins with damage to the organs of vision.