The symptoms and treatment of disease von Hippel Lindau
The Disease is von Hippel-Lindau disease is considered rare, but its manifestation there is a very dangerous and complicated pathology. Effective recovery is possible only at the initial stage of the disease, and when advanced, even radical methods do not give a full guarantee. The complexity of the treatment due to genetic in nature of origin of disease and the diversity of its manifestations.
Nature of problem
The Syndrome von Hippel-Lindau is a hereditary genetic disease characterized by proliferation of capillaries and numerous tumor manifestations of a different nature in several internal organs. Inheritance of disease occurs in an autosomal dominant manner and is generated by a mutation of the gene growth of tumors (VHL), located on the short arm of the third chromosome.
At its core, disease von Hippel-Lindau belongs to the group of phacomatoses (hereditary disease with a combination of nervous system and skin, as well as the development of endocrine disorders and abnormal development), which causes the combination of hemangioblastoma with a cerebellar angioma of the spinal cord, a variety of cysts of kidneys, pancreas, liver, testes and pheochromocytoma of the adrenal gland. In addition to brain hemangioblastoma observed in the retina of the eye. Almost 25% of cases pathology is marked carcinoma of the kidney.
The Disease is inherited and symptoms can, in principle, occur at any age. However, most often the first manifestations are noted after 30-35 years. At the same time, only early detection of the disease prolongs life of a sick person (without timely action, the life expectancy does not usually exceed 55 years).
The Most common manifestation of the disease von Hippel-Lindau recognized the emergence of hemangioblastoma of the cerebellum and the retina of the eye (almost 75% of all cases). Brain damage occurs usually at the age of 32-34 years, and 24-26 years. Such a neoplasm is benign and develops in the blood vessels.
With the appearance of a tumor in the cerebellum observed these symptoms:
- intracranial hypertension, manifested by headache and dizziness, weakness, nausea, vomiting;
- swaying staggering gait;
- loss of coordination
- tremor (shaking of limbs).
In the case of hemangioma of the retina is added nystagmus, expressed in oscillations of the eyeball in different directions. Dangerous consequence of the tumor, the infiltration of blood into the surrounding brain tissue due to the thinness of the shell of the tumor.
Another development of the disease is in the direction of the occurrence of various tumors in various internal organs. Often enough begins to grow a hepatic cyst is benign in nature and kidney a malignant tumor. Renal cell cancer, often detected at the age of 45-55 years and in most cases asymptomatic for a long time. With the development of pathology appear pain, visible swelling around the waist, found blood traces in the urine.
One of the manifestations of the syndrome of von Hippel-Lindau pheochromocytoma of the adrenal gland, almost always has a benign course. The average age of patients when developing such education is 29-32 years. The tumor may be bilateral with numerous nodes and often formed outside the adrenal tissues. The main symptoms:
- rapid heartbeat
- pale skin.
Pancreatic Tumor types have developed more than half of the patients people. The tumor in the pancreas can be benign or malignant, in the form of cysts and neuroendocrine tumors. The mean age of first manifestation of the tumor is 33-36 years. Malignant neuroendocrine of education is able to spread metastases to the liver.
Tumor of the endolymphatic SAC is formed inside the skull and is benign. Such education has common features:
- development of deafness
- weakening of the facial muscles.
In men, patients with syndrome of von Hippel-Lindau, a common direction of development of the disease is the germination of papillary cystadenoma testicular – neoplasms benign type. In women in rare cases can be detected the tumor of the uterine ligament. These abnormalities are asymptomatic and require no specific treatment.
Overall, given the varied manifestations of the disease, it is subdivided into 2 types. Type 1related disease with these manifestations: retinal angiomas, hemangioblastoma brain and tumor of the kidneys. In type 2 there are several varieties: 2A (angioma of the retina, brain hemangioblastoma, pheochromocytoma); 2B (2A signs are added tumors and cysts of the pancreas and other organs); 2C (pheochromocytoma).
Diagnosis and treatment of the disease
The Primary diagnosis is based on examination of the patient, study the history, examination eye the retina and analysis of hereditary factor. Important information from the analysis of blood to determine the level of glucose and catecholamines. Tumor formation are determined by the results of ultrasound, CT and magnetic resonance imaging.
The Most effective treatment is surgical removal of the tumor. When the tumor size is less than 30 mm is used laser therapy or chemotherapy. Very small entities are usually not removed, but is constantly monitored their growth. As additional funds are used drugs. To normalize brain functioning are appointed by the nootropic agents. When excess of glucose levels are recommended medications that lower the sugar content.