(HLRCC) Family Alliance

Hereditary Leiomyomatosis and
Renal Cell Cancer (HLRCC) Family
Graham Lovitt
What is HLRCC ?
• Cutaneous Piloleiomyomas (Skin Lumps)
• Uterine Leiomyomas (Fibroids)
• Papillary Type 2 or Collecting Duct Renal Cell
• Kidney cysts (semi benign until have hard
• 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
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
Ilene Sussman VHLFA Executive Director
HLRCCFA Brochure