Thursday, December 18, 2008

The Hatfields, the McCoys, and von Hippel Lindau Syndrome

I saw a patient in my clinic today with the diagnosis of von Hippel-Lindau Disease. She has a Cr in the mid 2's as a result of prior vascular disease as well as being status-post nephrectomy for a renal cell carcinoma discovered several years ago. To review, von Hippel-Lindau (VHL) disease is a rare, autosomal dominant genetic condition characterized by hemangioblastomas of the cerebellum, spinal cord and retina; individuals also have a high rate of nephrology-relevant tumors such as renal cell carcinoma and pheochromocytoma. The VHL gene is a tumor suppressor gene.

What do the Hatfields & McCoys have to do with VHL? In my rapid google search of VHL in the minutes preceding this patient's office visit, I found this interesting hit in which a Vanderbilt geneticist posits that this infamous Appalachian feud between two warring families could in part be due to the fact that the McCoy family is known to carry the VHL disease gene, with multiple affected family members who went public a few years ago. The theory states that pheochromocytomas within affected individuals would lead to an easily-angered and overly-aggressive phenotype as a result of unregulated adrenaline secretion by existing pheochromocytomas. Truth or fiction? It seems a matter of speculation, but a historically fun theory to consider.

1 comment:

Joel Topf said...

You need to read Malcolm Gladwells take on Appalachian people and Honor Culture as an explanation for the frequent feuds found in West Virginia, Kentucky and other mountainous remote areas of America. The book is Outliers and its excellent