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Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Family Alliance

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

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Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Family Alliance

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  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

  5. 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. Launonenet 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

  6. 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.

  7. 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.org HLRCC Handbook HLRCC Science Jan 2013 HLRCC Brochure Feb 2013 HLRCC UK Patient Registry - Oxford

  8. 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

  9. HLRCCFA Logo

  10. HLRCCFA Brochure

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