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