Hippel-Lindau disease: causes, symptoms, diagnosis, treatment

Angiomatosis of the retina and the cerebellum constitute the syndrome known as the Hippel-Lindau disease. The disease is inherited by an autosomal dominant type. The gene responsible for the occurrence of the syndrome is localized on the short arm of the chromosome 3 (3p25-p26). The main signs of the disease include retinal angiomatosis, cerebellar hemangioblastoma, brain and spinal cord, as well as renal carcinomas and pheochromocytomas.

A characteristic feature of this disorder is the variety of clinical symptoms. One patient rarely finds all pathological signs of the disease.

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Symptoms of Hippel-Lindau disease

Neurological

Damage to the central nervous system is almost always localized below the onset of the cerebellum. The most common hemangioblastoma of the cerebellum, occurring with a frequency of about 20%. Similar lesions occur in the brain and spinal cord, but more rarely. There may be syringobulbia and syringomyelia.

Lesions of internal organs

The kidneys are involved in a pathological process with the formation of carcinomas or hemangioblastomas from parenchymal cells. Less often there is a hemangioma of the pancreas. Pheochromocytomas are observed in approximately 10% of patients. Paraganglioma epididymus is not characteristic for the syndrome of Hippel-Lindau.

Ophthalmic manifestations

Approximately 2/3 of all cases of the disease, retinal angiomatosis, localized, as a rule, on the middle periphery is observed. Five stages of development of this damage are described.

• Stage 1. Preclinical; the initial accumulations of capillaries, their insignificant expansion by the type of diabetic microaneurysms.
• Stage 2. Classical; formation of typical retinal angiomas.
• Stage 3. Exudative; is caused by increased permeability of vascular walls of angiomatous nodes.
• Stage 4. Retinal detachment of exudative or tractive nature.
• Stage 5. Terminal stage; retinal detachment, uveitis, glaucoma, phthisis of the eyeball. Treatment, started at the early stages of the disease, is associated with a lower risk of complications. Cryotherapy, laser and radiotherapy, as well as surgical resection, are possible.

It is necessary to screen patients with Hyppel-Lindau syndrome, which includes the following studies:

1. annual inspection with registration of the received data;
2. ophthalmic examination every 6-12 months from the age of 6;
3. at least a single urinalysis for the presence of pheochromocytoma and a repeat of the study with increasing or unstable blood pressure;
4. bilateral selective angiography of the kidneys after reaching patients 15-20 years of age, with a repetition of the procedure every 1-5 years;
5. MRI of the posterior cranial fossa;
6. Computed tomography of the pancreas and kidneys after reaching patients 15-20 years of age, with a repetition of the procedure every 1-5 years or unscheduled if appropriate symptoms appear. It is advisable to screen children from the affected parents and / or other close relatives with a high risk of the disease. The study is conducted in the following areas:
   • Examination with registration of the received data after the child reaches 10 years of age;
   • annual ophthalmological examination from the age of 6 or when there are suspicious symptoms;
   • at least once a urinalysis for the presence of pheochromocytoma and a repeat of the study with increasing or unstable blood pressure;
   • MRI of the posterior cranial fossa, CT of the pancreas and kidneys after reaching the age of 20;
   • echography of the pancreas and kidneys after 15-20 years of age;
   • if possible, a family history study to determine which family member is the carrier responsible for the occurrence of the gene syndrome.