Causes
Known also as primary congenital lymphedema type I, Milroy disease affects the lymphatic system in a rare genetic way. A mutation in the FLT4 gene, which is involved in lymphatic vessel development, causes it, and it is inherited in an autosomal dominant pattern.
Symptoms
Milroy disease is characterized by the following symptoms:
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A condition in which lymphatic fluid accumulates in the limbs, typically beginning at birth or in early childhood.
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Due to chronic swelling, the affected limbs may have thickened and discolored skin.
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Infections in the affected limbs are more likely to recur as a result of lymphedema.
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As a result of severe cases, the affected limbs may be restricted in movement and functionally impaired.
Diagnosis
Milroy disease is diagnosed by:
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Evaluation of symptoms, medical history, and family history of lymphatic disorders.
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A molecular genetic test is used to confirm a diagnosis of FLT4 gene mutations.
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Lymphedema can be assessed using ultrasound or MRI imaging studies.
Treatment
Milroy disease is treated by managing symptoms and improving quality of life:
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Lymphedema can be managed by wearing compression garments.
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Exercises and lymphatic drainage techniques can improve mobility and reduce complications.
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In some cases, diuretics may be prescribed to reduce fluid retention.
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In severe cases, surgical interventions such as lymphatic bypass surgery or liposuction may be considered.
Prevention
Considering Milroy disease is inherited in an autosomal dominant pattern, genetic counseling can help families understand the risk of passing it down to their children. It is possible to prevent complications such as recurrent infections and skin changes by diagnosing and managing lymphedema early.
Conclusion
As a result of mutations in the FLT4 gene, Milroy disease causes congenital lymphedema. Individuals affected by this condition can significantly improve their quality of life with symptomatic treatment and supportive care, even though there is no cure. Our understanding of Milroy disease continues to advance, which may lead to better treatments in the future.
