Milroy Disease: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Milroy Disease?
A pediatrician, a children's doctor, often sees Milroy disease first. A clinical geneticist, a doctor for inherited conditions, can help with testing. A lymphedema therapist, a swelling-care specialist, helps with treatment. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Milroy disease?
Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system makes fluids and immune cells. It moves them through the body. When lymph fluid builds up, it causes swelling called lymphedema.
Milroy disease is a type of primary lymphedema that is present from birth. It is a rare disorder.
Symptoms
Most people have lymphedema in the lower legs and feet. It is there at birth or starts in infancy. The swelling usually affects both sides of the body. It may worsen over time.
Other features can include:
- Fluid in the scrotum, called a hydrocele, in some males.
- Toenails that slant upward and deep creases in the toes.
- Wart-like growths.
- Large leg veins.
Some people get cellulitis, a skin infection that is not contagious. Cellulitis can damage the thin tubes that carry lymph fluid, called lymphatic vessels.
Causes and who gets it
Changes in the FLT4 gene cause some cases of Milroy disease. These gene changes lead to small or absent lymphatic vessels. Lymph fluid then builds up in the body's tissues and causes lymphedema.
Many people with Milroy disease do not have a change in the FLT4 gene. In these people, the cause is unknown.
Milroy disease is inherited in an autosomal dominant pattern. This means one changed copy of the gene is enough to cause it. In many cases, an affected person inherits the gene change from one affected parent. Other cases happen in people with no family history of the disorder.
The risk of passing the gene change from an affected parent to a child is 50% for each pregnancy.
How doctors diagnose it
A doctor looks for lymphedema in the lower limbs before age one. Then one of two tests can confirm it:
- Genetic testing that finds a disease-causing change in the FLT4 gene.
- Lymphoscintigraphy, an imaging test that shows less movement of a tracer. The tracer is a radioactive substance injected through the skin.
Treatment
For most people with primary lymphedema of the arms or legs, non-surgical care may be the best approach. This means compression, exercise, a healthy body weight, and avoiding infection.
- Compression garments, chosen with a doctor or therapist.
- Complete decongestive therapy, given by a certified lymphedema therapist, to reduce swelling over a few weeks.
- Skin care, sunscreen, and insect repellent to avoid infection.
Antibiotics can treat infections such as cellulitis. They can also help prevent repeat infections.
Diuretics, also called water pills, are of limited use for primary lymphedema. They help mainly when other conditions add to swelling.
If other care is not enough and there is extra fat tissue, a fat-removal surgery can reduce limb size. It is called suction-assisted lipectomy. Compression garments are still needed afterward.
NORD's page on primary lymphedema in general reports no FDA-approved medicines or gene therapies for non-syndromic primary lymphedema that mainly affects the limbs.
When to see a doctor
People with lymphedema are at risk for infections such as cellulitis. Cellulitis causes areas of warm, painful, reddened skin. Red streaks on the skin and more swelling can also appear. Fever, chills, or headaches may also occur. If left untreated, cellulitis can lead to a blood infection called septicemia. It can also cause skin abscesses, open sores, and tissue damage. Tell a doctor right away if you see these signs.
Call 911 or go to the emergency room for severe trouble breathing, fainting, or sudden confusion or trouble waking up.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A direct primary care doctor can help you reach a lymphedema therapist. A certified lymphedema therapist gives complete decongestive therapy, which can reduce swelling.
Common questions
Is Milroy disease inherited?
Yes, it is inherited. Many people inherit the gene change from one affected parent. Other cases happen in people with no family history.
Is there a medicine that treats Milroy disease?
Not at this time. NORD's page on primary lymphedema in general reports no FDA-approved medicine or gene therapy for non-syndromic primary lymphedema that mainly affects the limbs. For most people with primary lymphedema of the limbs, care may focus on compression, exercise, a healthy body weight, and avoiding infection.
When do Milroy disease symptoms start?
They usually start at birth or in infancy. About 85% to 90% of people with an FLT4 gene change have swelling in both lower legs by age one.
Can Milroy disease lead to infections?
Yes, people with lymphedema are at risk for infections such as cellulitis.
Sources
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
