Symptoms and complications

Lymphangiomatosis is a multi-system disorder. Symptoms depend on the organ system involved and, to varying degrees, the extent of the disease. Early in the course of the disease patients are usually asymptomatic, but over time the abnormally proliferating lymphatic channels that constitute lymphangiomatosis are capable of massive expansion and infiltration into surrounding tissues, bone, and organs. 1, 4 Because of its slow course and often vague symptoms, the condition is frequently under-recognized or misdiagnosed. 9

Early signs of disease in the chest include wheezing, cough, and feeling short of breath, which is often misdiagnosed as asthma.The pain that accompanies bone involvement may be attributed to “growing pains” in younger children. With bone involvement the first indication for disease may be a pathological fracture. Symptoms may not raise concern, or even be noted, until the disease process has advanced to a point where it causes restrictive compression of vital structures.4 Further, the occurrence of chylous effusions seems to be unrelated to the pathologic “burden” of the disease, the extent of involvement in any particular tissue or organ, or the age of the patient.10 This offers one explanation as to why, unfortunately, the appearance of chylous effusions in the chest or abdomen may be the first evidence of the disease.

Following are some of the commonly reported symptoms of lymphangiomatosis, divided into the regions/systems in which the disease occurs:

Cardiothoraric

Symptoms that arise from disease of the cardiothoracic region include:

  • a chronic cough
  • wheezing
  • dyspnea (shortness of breath)—especially serious when occurring at rest or when lying down—fever
  • chest pain
  • rapid heartbeat
  • dizziness
  • anxiety
  • coughing up blood or chyle.1

As the deranged lymphatic vessels invade the organs and tissues in the chest they put stress on the heart and lungs, interfering with their ability to function normally. Additionally, these lymphatic vessels may leak, allowing fluid to accumulate in the chest, which puts further pressure on the vital organs, thus increasing their inability to function properly. 1, 4

Accumulations of fluid and chyle are named based on their contents and location:

  • pulmonary edema (the presence of fluid and/or chyle in the lung)
  • pleural effusions (fluid in the lung lining)
  • pericardial effusions (fluid in the heart sac)
  • chylothorax (chyle in the pleural cavity)
  • chylopericardium (chyle in the heart sac)

Abdominal

Lymphangiomatosis has been reported in every region of the abdomen, though the most reported sites involve the intestines and peritoneum; spleen, kidneys, and liver. Often there are no symptoms until late in the progression of the disease. When they do occur, symptoms include:

  • abdominal pain and/or distension
  • nausea
  • vomiting
  • diarrhea
  • decreased appetite
  • malnourishment

When the disease affects the kidneys the symptoms include:

  • flank pain
  • abdominal distension
  • blood in the urine
  • elevated blood pressure, which may result in it being confused with other cystic renal disease.11

When lymphangiomatosis occurs in the liver and/or spleen it may be confused with polycystic liver disease. Symptoms may include:

  • abdominal fullness and distension
  • anemia
  • disseminated intravascular coagulopathy (DIC)
  • fluid accumulation in the abdomen (ascites)
  • decreased appetite
  • weight loss
  • fatigue
  • liver failure1, 12, 13

 

Skeletal

Symptoms of lymphangiomatosis in the skeletal system are the same as those of Gorham’s disease. Frequently asymptomatic, skeletal lymphangiomatosis may be discovered incidentally or when a pathological fracture occurs. Patients may experience pain of varying severity in areas around the effected bone. When the disease occurs in the bones of the spine, neurological symptoms such as numbness and tingling may occur due to spinal nerve compression. 14 Progression of disease in the spine may lead to paralysis. Lymphangiomatosis in conjunction with Chiari I malformation also has been reported.15

References

 

Source: www.lgdalliance.org (April 5th, 2016)