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General Rehabilitation

Diagnosis and Management of Lymphedema-Distichiasis Syndrome (LDS): A Case Report

Diagnosis and Management of Lymphedema-distichiasis Syndrome (LDS): A Case Report

Thursday, November 16, 2023

    Primary Author(s)

  • Daniella Lipnick, MD

    Resident
    Montefiore Medical Center/Albert Einstein College of Medicine PM&R Program
    NEW YORK, New York

    • Co-Author(s)

  • ML

    Marco Lawandy, DO

    Resident Physician
    Montefiore Medical Center/Albert Einstein College of Medicine PM&R Program
    Bayonne, New Jersey

  • KS

    Kevin Sperber, MD

    Attending Physician
    Jacobi Medical Hospital
    New York, New York

  • Ricardo J. Fuentes-Saavedra, MD

    Resident Physician
    Montefiore Medical Center/Albert Einstein College of Medicine PM&R Program
    New York, New York

Case Diagnosis: This is a rare case of Lymphedema-Distichiasis syndrome in a man presenting with back pain secondary to severe kyphosis.

Case Description or Program Description: A 63-year-old man with a past medical history of kyphosis, multiple recent admissions for lymphedema complicated by infected ulcers, coronary artery disease, hypertension, and hyperlipidemia, presented to our clinic with a chief complaint of neck and back pain, and limited neck range of motion. He denied any weakness or numbness. On exam, the patient had fixed kyphotic posture of the lumbar spine. On CTLS x-ray imaging, the patient was found to have severe kyphosis.

Setting: Tertiary Medical Center

Assessment/Results: He was previously evaluated by Orthopedic Surgery but was not deemed a surgical candidate because of his open wounds from lymphedema and multiple medical comorbidities. We prescribed conservative management with gabapentin and physical therapy. He was then referred to Rheumatology who diagnosed him with likely Lymphedema-Distichiasis Syndrome.

Discussion (relevance): Lymphedema-distichiasis syndrome (LDS) is a genetic multisystem disorder due to a mutation in the FOXC2 gene. Two main features include bilateral leg swelling and growth of extra eyelashes but other problems include scoliosis/kyphosis. Discussion regarding treatment is scare and tends to focus on managing the lymphedema. However, back and neck pain from kyphosis/scoliosis are other common sequelae that require management.

Conclusions: Though rare, it is important to consider Lymphedema-Distichiasis syndrome when a patient presents with back pain and is also found to have lymphedema and distichiasis. This patient presented later in life, and early treatment with compression garments and spinal bracing may have had a significant impact. Future research needs to determine the particular type of rehabilitation program that would best reduce pain, improve mobility, and quality of life for these patients.