1. Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Family Alliance Graham Lovitt 13-Feb-2013

2. 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

3. 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

4. Krebs Cycle

8. History of HLRCC term "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

9. 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 www.vhl.org/hlrcc and a HLRCC discussion topic in patient forum for VHL in INSPIRE. www.vhl.org/hlrcc

10. HLRCC Family Alliance 2011-2013 HLRCC discussion topic in patient forum for VHL in INSPIRE Aug 2011 Facebook Closed Group http://www.facebook.com/groups/hlrcc/ Aug 2012 Medical, Research and Support Council HLRCCFA new website www.hlrccinfo.orgwww.hlrccinfo.org HLRCC Handbook HLRCC Science Jan 2013 HLRCC Brochure Feb 2013 HLRCC UK Patient Registry - Oxford

11. 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

12. HLRCCFA Logo

13. HLRCCFA Brochure