A woman experiencing joint and mobility issues turned to holistic medicine after feeling that her regular doctors weren’t adequately addressing her health problems. In recounting her health history to a new doctor, she also shared that she was concerned about her cancer risk since her deceased father had von Hippel-Lindau (VHL) syndrome and there was a strong history of breast cancer on her maternal side. VHL is a hereditary condition known to increase the risk of various tumors, including tumors in the blood vessels of the brain, spinal cord, and retina. Patients with VHL are also at higher risk for kidney cancer and pancreatic neuroendocrine tumors, as well adrenal gland tumors.
This doctor suggested the patient assess her genetic risk for cancer through the direct-to-consumer genetic testing firm 23andMe. The patient learned through this testing that she had several half-siblings. They talked about their test results and came to the conclusion that they were all conceived from the same sperm donor. The patient shared her suspicions with her mother, who denied this was the case. The mother further claimed the patient had been tested as a child for pathogenic variants in VHL but was negative; she did not provide any test records.
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