Description Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs cysts in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life. Tumors called hemangioblastomas are characteristic of von Hippel-Lindau syndrome. These growths are made of newly formed blood vessels.
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Slit lamp photograph showing retinal detachment in Von Hippel—Lindau disease Signs and symptoms associated with VHL disease include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure.
Conditions associated with VHL disease include angiomatosis , hemangioblastomas , pheochromocytoma , renal cell carcinoma , pancreatic cysts pancreatic serous cystadenoma , endolymphatic sac tumor , and bilateral papillary cystadenomas of the epididymis men or broad ligament of the uterus women.
As a result, loss of vision is very common. However, other organs can be affected: strokes, heart attacks, and cardiovascular disease are common additional symptoms.
There are over germline mutations and somatic mutations found in VHL disease. Every cell in the body has 2 copies of every gene bar those found in the sex chromosomes, X and Y. However, the second copy still produces a functional protein. Tumours form from only those cells where the second copy of the gene has been mutated. A lack of this protein allows tumors characteristic of von Hippel—Lindau syndrome to develop.
An inherited mutation of the VHL gene is responsible for the remaining 80 percent of cases. This leads to its degradation via the proteasome. During hypoxia, the proline residues are not hydroxylated and pVHL cannot bind. This is a subunit of a heterodimeric transcription factor that at normal cellular oxygen levels is highly regulated. Ala 65 Val, p. Gly 80 Asp, p. Gly 93 Glu, p.
Gln Glu, p. Gln Glu[ check spelling ] in the protein contributed to renal clear cell carcinoma. In individuals with a family history of VHL disease, one hemangioblastoma, pheochromocytoma or renal cell carcinoma may be sufficient to make a diagnosis. As all the tumours associated with VHL disease can be found sporadically, at least two tumours must be identified to diagnose VHL disease in a person without a family history.
These tests can be used to screen family members of those afflicted with VHL disease; de novo cases that produce genetic mosaicism are more difficult to detect because mutations are not found in the white blood cells that are used for genetic analysis. For this reason, individuals with VHL disease are usually screened routinely for retinal angiomas, CNS hemangioblastomas, clear-cell renal carcinomas and pheochromocytomas.
Photocoagulation and cryotherapy are usually used for the treatment of symptomatic retinal angiomas, although anti-angiogenic treatments may also be an option. Renal tumours may be removed by a partial nephrectomy or other techniques such as radiofrequency ablation. In an article appearing in the Associated Press, it has been speculated by a Vanderbilt University endocrinologist that the hostility underlying the Hatfield—McCoy feud may have been partly due to the consequences of Von Hippel—Lindau disease.
The article suggests that the McCoy family was predisposed to bad tempers because many of them had a pheochromocytoma which produced excess adrenaline and a tendency toward explosive tempers.
Von Hippel Lindau
Abstract The emergence of the New Information and Communication Technologies ICT and the large number of information flows have given rise to a new social paradigm marked by the use of Social Networks in all areas, including health; a fact that has allowed to delete the space-time barriers. That is why thanks to the globalized access of the Internet, increasing the value of any service is possible, in our case, community social intervention through the figure of the 3. In this way, the digital identity, the ethics of the Social Worker and the impact of social networks on health becomes a new challenge for Social Work. Because of that, we will analyze the importance of 3. Key Words Rare diseases, von Hippel-Lindau, 3. Trabajo Social Hoy, 86, doi:
Enfermedad de von Hippel-Lindau, una visión desde el trabajo social 3.0