Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Family Alliance Graham Lovitt 13-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 known patients worldwide with HLRCC families 7,000,000,000+ world population But under- diagnosed

Krebs Cycle

History of HLRCC term "myoma" was defined a hundred years before by Virchow in 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 Alliance VHL - 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 and a HLRCC discussion topic in patient forum for VHL in INSPIRE.

HLRCC Family Alliance HLRCC discussion topic in patient forum for VHL in INSPIRE Aug 2011 Facebook Closed Group Aug 2012 Medical, Research and Support Council HLRCCFA new website HLRCC Handbook HLRCC Science Jan 2013 HLRCC Brochure Feb 2013 HLRCC 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

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HLRCCFA Brochure