Living with GJC2-related late-onset primary lymphedema
A rare genetic condition with long-lasting swelling in the arms and legs from problems in the lymph system.
Understanding GJC2-related late-onset primary lymphedema
Symptoms can start anywhere from birth to adulthood and vary in severity. Arm swelling may develop only later in the course of the disease. In severe cases there can be repeated skin infections (cellulitis). Varicose veins and weak vein function have also been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Swelling of the legs (lymphedema)
- Ankle swelling
- Fluid buildup in the feet (pedal edema)
- Underdeveloped lymph vessels
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in GJC2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Skin Disease Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the GJC2 gene cause this condition. It is inherited in an autosomal dominant way, which means one changed copy of the gene is enough.
Also known as: gap junction protein gamma 2-related late-onset primary lymphedema
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with GJC2-related late-onset primary lymphedema.
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