This weekly series highlights eponyms in oncology. This week, we explore the history and namesakes of von Hippel-Lindau disease.

Von Hippel-Lindau (VHL) disease is a neoplastic syndrome associated with germline mutations in the VHL gene.1 Although most cases of VHL disease are familial, 20% arise from de novo mutations.

Patients with VHL disease may develop a broad range of malignant and benign tumors in the central nervous system, kidneys, adrenal glands, pancreas, and reproductive organs. 

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VHL-related death is commonly due to complications from renal cell carcinoma and central nervous system tumors. Early intervention in patients with VHL disease can prevent or delay morbidity and mortality, so experts recommend age-specific cancer screening for this group.

History of the Name

Eugen von Hippel, MD, a German ophthalmologist, and Arvid Lindau, MD, PhD, a Swedish pathologist, are the namesakes of VHL disease.2

Dr von Hippel was born in Königsberg, Germany, in 1867 and died in 1939.3 He studied internal medicine, pathology, and ophthalmology. He was a professor at the University of Heidelberg from 1892 to 1909, the University of Halle from 1909 to 1914, and the University of Göttingen from 1914 until his retirement in 1934.  

Dr von Hippel identified and described the clinical and histologic features of retinal hemangioblastoma.2 However, he never made a connection between retinal hemangioblastoma and VHL disease.4 

It was Dr Lindau who ultimately linked the systemic features of VHL to retinal and craniospinal hemangioblastomas.

Dr Lindau was born in Malmo, Sweden, in 1892 and died in 1958. He received his MD and PhD from the University of Lund. He became a professor there in 1933, while also serving as a military physician (from 1924 to 1934). 

While performing postmortem studies on patients with cerebellar hemangioblastomas, Dr Lindau found cysts in the pancreas, liver, and kidneys, as well as pheochromocytomas and hemangioblastomas of the liver, spinal cord, and retina. 

Based on these and subsequent findings, Dr Lindau suggested that the co-occurrence of visceral and nervous system lesions with retinal vascular changes represent a single disease process.     

Because of this work, “Lindau’s disease” was initially proposed as the name for VHL disease. However, because of Dr von Hippel’s original description of retinal hemangioblastomas, “von Hippel” was added to the name in the 1930s.

References

  1. Varshney N, Kebede AA, Owusu-Dapaah H, et al. A review of von Hippel-Lindau syndrome. J Kidney Cancer VHL. 2017;4(3):20-29. doi:10.15586/jkcvhl.2017.88
  2. Glasker S, Vergauwen E, Koch CA, Kutikov A, Vortmeyer AO. Von Hippel-Lindau disease: Current challenges and future prospects. Onco Targets Ther. 2020;13:5669-5690. doi:10.2147/OTT.S190753
  3. Igersheimer J. Eugen Von Hippel 1867-1939. Arch Ophthalmol. 1940;23(4):857-859. doi:10.1001/archopht.1940.00860130951016
  4. Huntoon K, Oldfield EH, Lonser RR. Dr. Arvid Lindau and discovery of von Hippel-Lindau disease. J Neurosurg. 2015;123:1093-1097. doi:10.3171/2015.1.JNS131963

Topics:

Eponyms in Oncology General Oncology Pancreatic Cancer Renal Cell Carcinoma