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.
1500 known patients worldwide with HLRCC
200-300 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 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 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.
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
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