Intestinal Lymphangiectasia Clinical Presentation

Updated: Nov 21, 2023
  • Author: John W Birk, MD, FACG; Chief Editor: Burt Cagir, MD, FACS  more...
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Patients typically present with pitting edema and nonbloody diarrhea. Primary intestinal lymphangiectasia usually results in bilateral edema, whereas the secondary intestinal lymphangiectasia often leads to unilateral edema, caused by various neoplastic, infiltrative, and inflammatory lesions affecting one side of the body. Onset of the disease during the early party of the first decade of life often results in growth retardation. [5]

Additional symptoms include anasarca, lymphedema, weight loss, fatigue, abdominal pain, steatorrhea, malabsorption (fat-soluble vitamin deficiencies), lymphocytopenia, and hypogammaglobulinemia. [5] Despite the presence of hypogammaglobulinemia, opportunistic infections are rare. However, lymphocytopenia predisposes patients to abnormal cellular immunities, such as homograft rejection and cutaneous anergy.

Patients with long-standing lymphangiectasia may also experience ascites, often chylous ascites, and chylous pleural effusions. [5]


Physical Examination

Primary intestinal lymphangiectasia

Peripheral edema, predominantly bilateral lower limb edema, is a common finding in patients with primary intestinal lymphangiectasia. [10] Other signs include anasarca, including decreased breath sounds due to pleural effusion, distended abdomen from ascites, and weight gain.

In some cases, macular edema observed during funduscopic examination has been reported and can lead to reversible blindness. [11]

Pachydermoperiostosis has been associated with intestinal lymphangiectasia. [12] Pachydermoperiostosis is a rare hereditary disease characterized by clubbing of the fingers, periostosis, and skin changes.

Secondary lymphangiectasia

Secondary lymphangiectasia can present with a spectrum of physical findings, which vary depending on the underlying cause.