The disease, which will be discussed later in the article, is usually classified as a group of complex hereditary pathologies. Its main characteristic feature is the formation in the body of multiple tumors originating from the tissues of various organs. It depends on which organ is affected more strongly, how the Hippel-Lindau syndrome manifests itself.
However, there is a known case of eight patients coming from the same family, when the only symptom of the pathology was polycystic kidney disease. The diagnosis in this case was established by identifying a genetic defect (mutation).
Hippel-Lindau disease is classified as a rare disease with an incidence of 1 in 36,000 newborns.
Mechanism of development of pathology
The basis of Hippel-Lindau disease is a generalized disorder of a hereditary nature, characterized by excessive growth of capillary tissue and the appearance of a large number of tumor neoplasms as a result.
The disease is transmitted to the next generation in an autosomal dominant manner, that is, if one of the parents has the gene encoding the pathology, the probability of the disease of the offspring is 50%.
Defect (mutation) leads to the suppression of the gene, which is a suppressortumor growth.
Manifestations - oncological processes
The main manifestations of the Hippel-Lindau syndrome are tumors of the pituitary gland, cerebellum, spinal cord, retina, and internal organs. We list the possible neoplasms:
- Hemangioblastomas - have localization in the cerebellum or retina; originate 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 tumor of the central nervous system is 42 years.
- Angiomas are neoplasms of vascular origin located in the spinal cord.
- Cysts. These are neoplasms that have a cavity filled with fluid 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 is a tumor originating from the cells of the adrenal medulla. The frequency of occurrence is about 7% of cases. The average age of patients with pheochromocytoma is about 25 years old.
- Cell carcinoma. In particular, the average age of patients with this tumor is 43 years.
- Men with Hippel-Lindau disease may develop benign neoplasms in the testicles (eg, papillary cystadenoma).
- Women have uterine ligament tumors.
Criteria for diagnosis
Von Hippel-Lindau disease can be diagnosed if at least one of the symptoms listed below is detected. But this is possible provided that at least one of the patient's family members has a history of hemangioblastoma of the central nervous system, hemangioblastoma of the retina, cystic formations of the kidneys or adenocarcinoma:
- hemangioblastoma, which is located in the cerebellar tissue, as well as in other parts of the central nervous system;
- spinal cord hemangioblastoma;
- hemangioblastoma with localization in the bone marrow;
- hemangioblastoma on the retina;
- cystic lesion of kidney tissue;
- renal adenocarcinoma;
- cystic formations of the pancreas;
- cystadenocarcinoma;
- pheochromocytoma;
- epididymal adenoma.
It should be noted that the medical speci alties that deal with the problem of Hippel-Lindau syndrome are neurology, ophthalmology, urology, therapy.
Hemangioblastoma CNS
The most commonly reported manifestation of von Hippel-Lindau syndrome is the development of hemangioblastoma of the cerebellum, spinal cord or retina. A tumor that has developed on the cerebellum has the following manifestations:
- Headaches of bursting nature.
- Nausea, vomiting.
- Uncertainty when walking due to lack of coordination.
- Dizziness.
- Impaired consciousness (typical for the later stages of pathology).
When hemangioblastoma is localized in the spinal cord, the main clinical symptoms are decreased sensitivity, paresis and paralysis, impaired urination and defecation. Pain syndrome is observed only occasionally.
This type of tumor is classified as slowly progressive. And the most informative examination method for diagnosis and control is magnetic resonance imaging (MRI), enhanced by contrasting the area under study.
The only effective way to treat cerebellar hemangioblastoma today is its surgical removal. The use of radiation and drug methods did not show a convincing positive result.
After microsurgical removal, hemangioblastoma usually 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 typical for Hippel-Lindau disease.
Retinal angiomatosis
For the ophthalmic localization of the pathological process, a characteristic feature is the triad of signs:
- presence of angioma;
- vasodilation in the fundus;
- presence of subretinal exudation (accumulation of fluid - a product of inflammation - under the cornea), which can cause the development of exudative retinal detachment at an advanced stage of the disease.
For the initial stagesdisease is typically a decrease in pigmentation in the fundus, increased tortuosity of blood vessels. When pressing on the eyeball, a pulsation of both arteries and veins is noted.
In the later stages, vasodilation and tortuosity of the vessels progress, the formation of aneurysms and angiomas, which have a characteristic appearance of rounded glomeruli, is possible - this is a specific sign of Hippel-Lindau disease.
Pheochromocytoma
When the adrenal glands are affected, Hippel-Lindau disease is manifested by the formation of pheochromocytoma. This neoplasm, originating from the substance of the adrenal medulla, is usually benign. It is diagnosed in most cases at the age of about 30 years and is characterized by bilaterality, multiple nodes and the ability to move to adjacent tissues.
Pheochromocytoma is manifested by the following signs:
- Hypertension resistant to antihypertensive therapy.
- Blood pressure related cranialgia.
- Pale skin.
- Tendency to hyperhidrosis.
- Tachycardia.
Cancer of the pancreas
Oncological pathology of the pancreas is variable: tumors can be both benign and malignant. And in terms of structure, these are either cystic formations or neuroendocrine tumors.
Various oncological processes that affect the pancreas occur in half of patients with Hippel-Lindau disease. Symptoms in this case are usually associated with impaired pancreatic function.gland.
The average age of patients at the time of detection of neoplasms is 33-35 years. In the case of a malignant process, the metastatic process is directed to the liver.
Tumor of the endolymphatic sac
Developing with the named syndrome, this oncological process always has a benign course and manifests itself as follows:
- Auditory disorders, up to complete hearing loss.
- Dizziness.
- Discoordination disorders.
- Tinnitus.
- Paresis of facial muscles.
Diagnosis
Preliminary diagnosis is carried out on the basis of a general and ophthalmological examination of the patient, anamnesis, including hereditary and family history.
Very informative is a blood test that reveals the content of glucose and catecholamines in it.
It is advisable to visualize neoplasms using magnetic resonance imaging (MRI).
Fluorescein angiography is a source of valuable information for the early diagnosis of eye pathology. 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 identify the vessel supplying the tumor much earlier than ophthalmoscopy.
A complete comprehensive examination consists of the following diagnostictreatments:
- Computer and magnetic resonance imaging. Thanks to the use of these methods, the number of diseases diagnosed at an early stage has increased significantly. And in this case, they are often amenable to therapy.
- Ultrasound tomography.
- Angiography is a source of objective information about which organ the neoplasm originates from.
- Pneumoencephalography.
It is important to know that if a tumor process is detected in one of the organs, it is necessary to conduct a full examination to exclude the pathology of other areas.
Treatment
General approaches to the treatment of Hippel-Lindau syndrome are consistent with the principles of cancer therapy. Therapy should be complex and combine surgical and radiation methods. Each of them is used strictly in accordance with the indications, contraindications, characteristics of a particular tumor and the patient's condition.
Drugs are used mainly as symptomatic therapy to correct some functions of individual organs and the general condition of the patient.
Forecast
With timely diagnosis and correctly selected treatment, the development of the disease, as well as its negative impact on the body, can be controlled. A prerequisite is early diagnosis and treatment.
However, in some cases, despite the efforts made, the prognosis remains unfavorable for the patient due to the high risk of developingcomplications.
