Living with Hereditary lymphedema type I
An inherited condition with long-lasting swelling, mostly in the legs, from a lymphatic system problem.
Understanding Hereditary lymphedema type I
It can start before birth, at birth, or in infancy, and it can appear later. How much swelling occurs varies. People can also have changes in the nails and skin. Different types of primary lymphedema are caused by different genes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Swelling from excess lymph fluid (lymphedema)
- Swollen ankles and feet
- Skin infection (cellulitis)
- Varicose veins
- Abnormal toenails
- Thickened skin (hyperkeratosis)
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 FLT4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Lymphatic Education and Research Network may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Lymphatic Education and Research Network
- 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 Lymphatic Education and Research Network and other patient organizations
- 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
It is caused by changes in the FLT4 gene. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: congenital hereditary lymphedema; congenital primary lymphedema; early onset lymphedema; flt4 hereditary lymphedema; hereditary lymphedema 1; hereditary lymphedema caused by mutation in flt4
Patient organizations
- Lymphatic Education and Research NetworkHereditary lymphedema type I · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary lymphedema type I.
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