The Genetic Puzzle Behind Primary Lymphoedema: What the Genes Reveal
- rachaelboggiano
- May 8
- 2 min read
Updated: May 20
The Genetic Puzzle Behind Primary Lymphoedema: What the Genes Reveal
After learning about genetic testing for primary lymphoedema at a recent community meet-up, I’ve become deeply interested in the different gene mutations linked to the development of this condition. Primary lymphoedema arises from malformations in the lymphatic system caused by abnormalities or mutations in certain genes. These genetic changes lead to the symptoms we know by affecting how the lymphatic vessels form and function.
Here are the key genes involved:
ADAMTS3: Produces an enzyme that breaks down cartilage
BRAF: A gene involved in the MAPK pathway that controls cell growth
CCBE1: Helps develop and maintain lymphatic vessels
EPHB4: A receptor that guides cell interactions during lymphatic development
FAT4: Supports cell adhesion and signaling in the lymphatic system
GATA2: Regulates development of blood and lymphatic cells
GJA1 & GJC2: Encode proteins that allow cells to communicate directly
HGF: Stimulates cell growth and movement
IKBKG: Controls immune responses and inflammation through NF-kB regulation
KIF11: Involved in cell division by managing chromosome segregation
MAP2K1 & MAP2K2: Activate key signaling pathways for cell growth
Monosomy X: A chromosomal condition where only one X chromosome is present in females
PIEZO1: A sensor for fluid flow in lymphatic vessels
PIK3CA: Plays a role in cell growth, survival, and metabolism
PTPN11 & PTPN14: Regulate important cell signaling pathways
RASA & RASA1: Modulate RAS signaling, which controls cell growth
RIT1: Helps with cell adhesion and communication
SOS1: Activates the RAS signaling pathway
SOX18: Important for the development of lymphatic and other tissues
TSC1 & TSC2: Tumor suppressors that keep cell growth in check
VEGFC: A growth factor essential for forming and maintaining lymphatic vessels
Although many of these terms can be quite complex, diving into this genetic landscape has been incredibly eye-opening and fulfilling. It helps me better understand my condition not just physically, but intellectually. It gives me hope that with more research, more targeted treatments might become available in the future. I have now been referred to St. George's Hospital, London for genetic testing to be done on me.
