Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Family Alliance
Graham Lovitt13-Feb-2013
What is HLRCC ?
• Cutaneous Piloleiomyomas (Skin Lumps) • Uterine Leiomyomas (Fibroids)• Papillary Type 2 or Collecting Duct Renal Cell
Carcinoma• Kidney cysts (semi benign until have hard
lumps)• Benign adrenal tumors • Leydig testicular cancer
How Rare is HLRCC ?
a rare disease is defined as a disease that affects less than 5 patients per 10,000 people
The European Organization for Rare Diseases (EURORDIS) defines a disease / disorder as ‘ultra-rare’ when it affects fewer than 20 patients per one million of population. 1500 known patients worldwide with HLRCC 200-300 families
7,000,000,000+ world population
But under- diagnosed
Krebs Cycle
History of HLRCCterm "myoma" was defined a hundred years before by Virchow in 1854.
Reed’s Syndrome or "multiple cutaneous and uterine leiomyomas" (MCUL) in 1973
V. Launonen et al. published a paper linking malignant kidney cancer in 2001
I.P. Tomlinson et al. identified alterations in the FH gene in 2002
HLRCC Family Alliance formed in 2004
HLRCC Family AllianceVHL - Von Hippel-Lindau (VHL) Family Alliance was formed 1993
HLRCCFA is supported as a project of the VHL Family Alliance (Von Hippel-Lindau (VHL)) and was formed in 2004
In 2011 the chairman wanted to leave.
There was a unmaintained webpage under www.vhl.org/hlrcc and a HLRCC discussion topic in patient forum for VHL in INSPIRE.
HLRCC Family Alliance 2011-2013HLRCC discussion topic in patient forum for VHL in INSPIREAug 2011 Facebook Closed Group http://www.facebook.com/groups/hlrcc/
Aug 2012Medical, Research and Support CouncilHLRCCFA new website www.hlrccinfo.org HLRCC HandbookHLRCC Science
Jan 2013HLRCC Brochure
Feb 2013HLRCC UK Patient Registry - Oxford
HLRCC Family Alliance Committee
Julie Haff Rejman, Chair
Antony Horton, Vice Chair
Graham J Lovitt, Vice Chair
Joyce Graff, HLRCCFA and VHLFA Director of Wellness
Ilene Sussman VHLFA Executive Director
HLRCCFA Logo
HLRCCFA Brochure