From the Guidelines
Yes, angiomatosis is part of von Hippel-Lindau (VHL) syndrome. VHL is an inherited genetic disorder characterized by the formation of abnormal blood vessel tumors (angiomas) in multiple organs. These angiomas can develop in the retina (retinal hemangioblastomas), brain and spinal cord (central nervous system hemangioblastomas), as well as in other organs including the kidneys, pancreas, adrenal glands, and epididymis. The condition is caused by mutations in the VHL tumor suppressor gene located on chromosome 3, which normally helps regulate cell growth. When this gene is defective, it leads to uncontrolled growth of blood vessels, resulting in the characteristic angiomatosis seen throughout the body.
Key Points
- Patients with VHL require lifelong surveillance with regular imaging studies (MRI of brain and spine, abdominal imaging) and ophthalmologic examinations to detect new lesions early.
- Management typically involves a multidisciplinary approach with neurosurgeons, urologists, oncologists, and other specialists to address the various manifestations of the disease as they develop.
- The latest guidelines for ocular surveillance of VHL disease recommend that individuals with known or suspected VHL disease should undergo periodic ocular screening with dilated ophthalmoscopy, starting within 12 months after birth and continuing throughout life 1.
- The frequency of ocular screening may be influenced by the quality of the previous examination obtained in young children, and examination under anesthesia may be considered in children in whom a detailed office examination is not possible 1.
- Patients at risk of VHL disease, including first-degree relatives of patients with known VHL disease, or any patient with single or multifocal retinal hemangioblastomas (RHs), should undergo genetic testing of the VHL gene as part of an appropriate medical evaluation 1.
- Extramacular or extrapapillary RHs should be treated promptly, and even small (diameter < 500 mm) extramacular or extrapapillary RHs should be treated early rather than observed 1.
- Ultra-widefield photography and ultra-widefield fluorescein angiography may be helpful in certain circumstances to monitor RHs and detect small RHs, but they cannot replace a detailed dilated funduscopic examination 1.
From the Research
Definition and Characteristics of Von Hippel-Lindau Syndrome
- Von Hippel-Lindau (VHL) syndrome is a rare, hereditary disorder characterized by the development of multiple tumors and cysts in various parts of the body due to mutations in the VHL gene on chromosome 3p25-26 2.
- Patients with VHL are at increased risk for hemangioblastomas of the brain, spinal cord, and retina, renal cell carcinomas, pheochromocytomas, pancreatic neuroendocrine tumors, and endolymphatic sac tumors 3, 4.
Association with Angiomatosis
- Hemangioblastomas, which are a type of vascular tumor, are a key component of VHL syndrome 5, 4.
- Angiomatosis, which refers to a condition characterized by the presence of multiple angiomas (benign tumors composed of blood vessels), can be considered part of the spectrum of VHL syndrome, given the presence of hemangioblastomas in VHL patients 5.
- However, the term "angiomatosis" is not explicitly mentioned in the provided studies as a direct component of VHL syndrome.
Clinical Manifestations and Management
- Clinical manifestations of VHL syndrome vary widely, and early diagnosis through genetic testing and regular surveillance is crucial for effective management 2, 6.
- Treatment involves monitoring for tumor development, surgical removal of tumors, and targeted therapies for advanced cases 2, 4.
- A multidisciplinary approach is necessary for the management of VHL syndrome, given the complexity and variability of its clinical manifestations 3, 6.