She fights with diminished strength to piece together tidbits of information from other VHL patients and pass it along to researchers at national research institutes and doctors who are slowly building a better understanding about a disease that manifests itself differently in every patient. People with VHL are predisposed to form tumors or cysts in certain organs, especially the kidneys, central nervous system, endolymphatic sac, retina, adrenal glands, pancreas and epididymis. Signs that patients and doctors should look for include a family history of VHL and at least one lesion in one of those target organs or two typical VHL lesions.
Diagnosis can be tricky.
In fact, VHL is the most common syndrome of hereditary kidney cancer. While blood vessels normally grow like trees, in people with VHL little knots of blood capillaries usually occur. These knots then can cause problems themselves or in nearby organs. If a doctor sees any of these manifestations they need to think of von Hippel-Lindau and arrange to have studies done. A lot of advances have been made since Fran was finally diagnosed when she was 36.