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Related Experiment Videos

Hereditary late-onset lymphedema.

L B Holmes, J P Fields, J B Zabriskie

    Pediatrics
    |April 1, 1978
    PubMed
    Summary
    This summary is machine-generated.

    Two types of hereditary late-onset lymphedema, one with recurrent lymphangitis and another with distichiasis, are caused by autosomal dominant genes. Early diagnosis is crucial for effective management of these genetic lymphedema conditions.

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    Area of Science:

    • Genetics
    • Medical Science

    Background:

    • Hereditary lymphedema represents a group of rare genetic disorders affecting lymphatic system development and function.
    • Late-onset lymphedema can manifest in adulthood, often presenting diagnostic challenges.
    • Understanding the genetic basis of lymphedema is crucial for accurate diagnosis and management.

    Observation:

    • Two distinct families presented with hereditary late-onset lymphedema.
    • The first family exhibited recurrent streptococcal lymphangitis, with one member showing lymphatic hypoplasia and benefiting from penicillin prophylaxis.
    • The second family presented lymphedema associated with distichiasis (extra eyelashes) and a wide spinal canal.

    Findings:

    • Both described types of hereditary late-onset lymphedema—lymphedema with lymphangitis and lymphedema with distichiasis—are inherited in an autosomal dominant pattern.

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  • Lymphatic hypoplasia was observed in one case, suggesting a developmental component to the lymphatic dysfunction.
  • Penicillin prophylaxis was effective in preventing recurrent lymphangitis in one affected individual.

    • Implications:

    • Early diagnosis of autosomal dominant lymphedema syndromes is essential for timely intervention and improved patient outcomes.
    • Recognizing the genetic basis of lymphedema can prevent long-term complications such as chronic severe lymphedema.
    • This study highlights the importance of considering genetic factors in the evaluation of late-onset lymphedema, particularly when other familial cases or associated anomalies are present.