How is Hippel-Lindau disease manifested?

Disease, which will be discussed later in thearticle, it is customary to refer to a group of complex hereditary pathologies. Its main characteristic is the formation in the body of multiple tumors originating from the tissues of various organs. From what body will be hit harder, it depends on how the Hippel-Lindau syndrome manifests itself.

However, the case concerning eightpatients who come from the same family, when the only symptom of the pathology was polycystic kidney disease. The diagnosis in this case was established by the identification of a genetic defect (mutation).

Hippel-Lindau disease is attributed to rare pathologies, and the frequency of its occurrence is one case of 36,000 newborns.

Mechanism of pathology development

The basis of the Gippel-Lindau disease liesgeneralized violation of the hereditary nature, characterized by excessive proliferation of capillary tissue and the emergence of a large number of tumor neoplasms.

The disease is transmitted to the next generation in an autosomal dominant type, that is, in the presence of a gene coding for pathology, in one of the parents, the probability of morbidity in the offspring is 50%.

Defect (mutation) leads to suppression of the gene, which is a suppressor of tumor growth.

Manifestations - oncological processes

The main manifestations of the Hippel-Lindau syndrome are tumors of the pituitary gland, cerebellum, spinal cord, retina, internal organs. We list the possible new formations:

• Hemangioblastomas - have localization in the cerebellumor the retina of the eye; come from nervous tissue. CNS neoplasms have a frequency of at least 60% in patients with Hippel-Lindau disease. The average age of patients with this type of central nervous system tumor is 42 years.
• Angiomas are neoplasms of vascular origin that have a localization in the spinal cord.
• Cysts. These are neoplasms that have a cavity filled with a liquid inside. Such elements can be formed in the liver, kidneys, testicles and pancreas. In particular, cysts of the kidneys and pancreas occur in 33-54% of cases.
• Pheochromocytoma - a tumor that originates from the cells of the adrenal medulla. Frequency of occurrence is about 7% of cases. The average age of patients with pheochromocytoma is about 25 years.

• Cellular carcinoma. In particular, the average age of those affected with this tumor is 43 years.
• In men with Hippel-Lindau disease can develop benign tumors in the testicles (for example, papillary cystadenoma).
• In women, there is a tumor lesion of the ligament of the uterus.

Criteria on which the diagnosis is made

The diagnosis of "von Hippel-Lindau disease" may beif any of the symptoms listed in the following list are detected. But this is possible provided that in a history of at least one of the family members of the patient hemangioblastoma of the central nervous system, hemangioblastoma of the retina, cystic kidney or adenocarcinoma:

• hemangioblastoma, which is localized in the cerebellum tissue, as well as in other parts of the central nervous system;
• hemangioblastoma of the spinal cord;
• hemangioblastoma with localization in the bone marrow;
• hemangioblastoma on the retina of the eye;
• cystic kidney tissue damage;
• renal adenocarcinoma;
• cystic pancreas;
• cystadenocarcinoma;
• pheochromocytoma;
• adenoma is epididymal.

It should be noted that the medical specialties, whose representatives deal with the problem of Hippel-Lindau syndrome - neurology, ophthalmology, urology, therapy.

Hemangioblastoma of the central nervous system

The most frequently recorded manifestationssyndrome von Hippel-Lindau is the development of hemangioblastoma of the cerebellum, spinal cord or retina. The tumor that develops on the cerebellum has the following manifestations:

• Headaches of a bursting nature.
• Nausea, vomiting.
• Uncertainty when walking, due to coordination disorders.
• Dizziness.
• Disorders of consciousness (typical for later stages of pathology).

With the localization of hemangioblastoma in the spinal cord,the main clinical symptoms are decreased sensitivity, paresis and paralysis, violations of urination and defecation. Pain syndrome is noted only occasionally.

This type of tumor is referred to slowlyprogressing. And the most informative for diagnosis and control by the method of examination is recognized as magnetic resonance imaging (MRI), enhanced by contrasting the area under study.

The only effective way to treathemangioblastoma of the cerebellum to date is its surgical removal. The use of radiotherapy and medicamental methods did not show a convincing positive result.

After microsurgical removalhemangioblastoma, as a rule, does not recur, but other neoplasms may appear. In the surgical treatment of this tumor, it is necessary to take into account its multiplicity, which is characteristic of the Hippel-Lindau disease.

Retinal angiomatosis

For the ophthalmological localization of the pathological process, a characteristic feature is a triad of signs:

• presence of angioma;
• vasodilation on the fundus;
• the presence of subretinal exudation (accumulation of fluid - the product of inflammation - under the cornea), which can lead to the development of exudative retinal detachment at an advanced stage of the disease.

For the initial stages of the disease, the decrease in pigmentation on the fundus, the increased tortuosity of the blood vessels, is typical. When pressing on the eyeball, pulsation of both arteries and veins is noted.

At later stages, vasodilation and tortuosityvessels are progressing, possibly the formation of aneurysms and angiomas, which have a characteristic form of rounded glomeruli, is a specific sign of Hippel-Lindau disease.

Pheochromocytoma

With adrenal damage, diseaseHippel-Lindau is manifested by the formation of pheochromocytoma. This neoplasm, originating from the substance of the adrenal medulla, has, as a rule, a benign character. Diagnosed in most cases at the age of about 30 years and is characterized by two-sided, multiple nodes and the ability to switch to tissues located side by side.

The following signs show pheochromocytoma:

• Resistant to antihypertensive therapy, hypertension.
• Associated with arterial pressure is cranialgia.
• Pale skin.
• Propensity to hyperhidrosis.
• Tachycardia.

Oncological damage of the pancreas

Oncological pathology of the pancreasVariable: tumors can be both benign and malignant. And on structure it or cystic educations, or neuroendocrine tumors.

Various oncological processes affectingpancreas, occur in half of patients with Hippel-Lindau disease. Symptoms are associated, as a rule, with impaired pancreatic function.

The average age of the patients at the time of detection of tumors was 33-35 years. In the case of a malignant process, the metastatic process is directed to the liver.

Tumor of endolymphatic sac

Developing at the named syndrome, the given oncological process always has a benign character of a current and is shown as follows:

• Auditory disorders, up to complete loss of hearing.
• Dizziness.
• Discoordinate disturbances.
• Noise in ears.
• Parezy muscles of the face.

Diagnostics

Preliminary diagnosis is carried out on the basis of general and ophthalmologic examination of the patient, anamnesis, including hereditary-familial.

Very informative is the study of blood, revealing the content of glucose and catecholamines.

It is advisable to visualize neoplasms using magnetic resonance imaging (MRI).

A source of valuable information for the earlyDiagnosis of eye pathology is fluorescent angiography. This diagnostic technique helps to identify the initial manifestations of pathology in the vascular bed of the fundus, which are not recorded during ophthalmoscopy (such as telangiectasia, newly formed vessels). In the case of progression of the pathological process, this technique makes it possible to detect the feeding tumor of the vessel much earlier than the ophthalmoscopy.

Complete comprehensive examination consists of the following diagnostic procedures:

1. Computer and magnetic resonance imaging. Thanks to the use of these methods, the number of diagnosed diseases in the early stages has increased significantly. And in this case they are often amenable to therapy.
2. Ultrasonic tomography.
3. Angiography is the source of objective information about which organ the tumor is taking.
4. Pneumoencephalography.

It is important to know that in case of detection of a tumor process in one of the organs, it is necessary to conduct a complete examination to exclude the pathology of other areas.

Treatment

General approaches to the treatment of Hippel-Lindau syndromecorrespond to the principles of therapy of oncological diseases. Therapy should be comprehensive and combine surgical and radiotherapy. Each of them is applied strictly in accordance with the indications, contraindications, features of the specific tumor and the patient's condition.

Medications are used mainly as a symptomatic therapy for the correction of certain functions of individual organs and the general condition of the patient.

Forecast

With timely diagnostics and correctlythe selected treatment, the development of the disease, as well as its negative impact on the body can be controlled. An obligatory condition is the diagnosis and the beginning of treatment in the early periods.

However, in a number of cases, despite the efforts made, the prognosis remains unfavorable for the patient due to the high risk of complications.