Splenic lymphangiomatosis is an extremely rare condition, often considered to be a result of developmental malformation in the lymphatic system. While its occurrence in the spleen is very rare, splenic lymphangiomatosis can be noted with only splenic involvement or it can be a part of a multi-organ disease condition. Splenic lymphangiomatosis, being congenital in nature, is usually seen in children, however, it may be observed at any age in rare cases.
Lymphangiomatosis is a condition in which congenital malformations from the lymphatic system are formed. These are usually benign in nature and are commonly formed in the upper part of the body, like axilla, neck or skin of face, while internal organs like liver, kidneys, soft tissues or bones may be involved sometimes. Involvement of spleen to form splenic lymphangiomatosis is a very rare condition and needs proper evaluation and diagnosis, to plan appropriate management. Involvement of many organs along with splenic lymphangiomatosis makes it difficult to manage, is usually progressive and may have a poor prognosis.
About Splenic Lymphangiomatosis
Splenic lymphangiomatosis can be very rarely found as the only involvement and in most cases other organs are involved too. Based on the involvement of other organs, with clinical significance, splenic lymphangiomatosis can be classified as:
- Systemic Splenic lymphangiomatosis – This condition involves many other organs along with splenic lymphangiomatosis.
- Hepato-splenic lymphangiomatosis – This condition of splenic lymphangiomatosis primarily involves the liver and the spleen.
- Purely splenic lymphangiomatosis – This condition of splenic lymphangiomatosis involves only the spleen, which is very rare. It may be usually seen in children but cases in older adults have also been reported.
Causes of Splenic Lymphangiomatosis
While the exact cause of splenic lymphangiomatosis is not clear, it is speculated that it could be a result of malformations during the embryonic development. The obstruction of the lymphatic vessels affecting the normal lymphatic drainage during embryonic development can be one of the causes of splenic lymphangiomatosis. In splenic lymphangiomatosis, cysts are formed on the spleen, which are mainly formed from lymphatic vessels. In some cases, cysts may also be acquired during the life, leading to splenic lymphangiomatosis.
Symptoms of Splenic Lymphangiomatosis
Splenic lymphangiomatosis may not be symptomatic always and cases are often identified as an incidental finding. Symptoms of Splenic lymphangiomatosis, when present can include upper left abdominal pain, nausea, sometimes vomiting, cough or difficulty in breathing. The course of this disease is often slow and hence not easily identified.
Symptoms presented may often mimic other conditions and the possibility of splenic lymphangiomatosis may remain unnoticed.
Symptoms of splenic lymphangiomatosis depend on the involvement of other organs. Based on the region which is affected, splenic lymphangiomatosis may present with varying symptoms. Some of these include
Gastric Symptoms – Splenic lymphangiomatosis when combined with involvement of any other abdominal organ, may lead to gastric symptoms. The common sites involved are liver, kidneys, intestines or the peritoneum. Symptoms often include pain in abdomen, abdominal distension, reduced appetite, nausea, vomiting. Decreased appetite may cause weight loss and malnourishment. Splenic lymphangiomatosis or involvement of liver can also present with fluid accumulation in abdomen or ascites, anemia and sometimes liver failure in advanced cases. Involvement of kidneys may present with abdominal distension, pain in the flanks, difficulty in passing urine, bloody urine. It may sometimes also result in renal problems and high blood pressure.
Cardiorespiratory Symptoms – Splenic lymphangiomatosis when accompanied with disease in the lungs and chest region, it may result in symptoms of cough, chest pain, fever, wheezing and breathlessness. Difficulty in breathing may be more on movement or even at rest and when lying down. Symptoms of splenic lymphangiomatosis may also include palpitations, anxiety or dizziness. Sometimes, vomiting or coughing up of blood may be noticed. Fluid can get leaked from the lymphatic vessels and can get accumulated in the chest and coverings of the organs. This can lead to pleural effusion, pericardial effusion or accumulation of lymph fluid or chyle in these areas.
When splenic lymphangiomatosis is associated with bone disease, it may present with bone pain in the affected areas. In most cases the condition remains asymptomatic, however, changes may be noted during imaging studies for other purposes or due to pathological fractures. Bones of spine may also get involved along with splenic lymphangiomatosis and can sometimes cause nerve compression, which can lead to symptoms like burning pain, numbness and tingling in the area supplied by that nerve.
Such symptoms may be commonly noted in the hands and feet. If nerve compression progresses, it can also cause permanent damage to the nerve and paralysis. Splenic lymphangiomatosis in children has been reported in many cases, in which the presentation was involvement of other sites more commonly than the spleen. It is possible that splenic lymphangiomatosis in children, is presented with bone and soft tissue involvement. Splenic lymphangiomatosis in children may be noted during investigation of cases with pathological fractures in children and is commonly observed on imaging investigations done for other purposes.
Diagnosis of Splenic Lymphangiomatosis
In splenic lymphangiomatosis, splenic cysts are formed from lymph vessels and usually appear as cystic lesion on the spleen and other affected areas. Splenic lymphangiomatosis can be suspected when splenic cysts are noted during imaging studies. These are often noted during imaging studies for other reasons, which may include investigations for abdominal complaints or cardiothoracic problems. Splenic lymphangiomatosis in most cases occurs in association with involvement of other sites like liver, intestines, bones and soft tissues. Any investigations done for problems in these areas can reveal splenic lymphangiomatosis.
When symptoms related to abdominal involvement are present abdominal ultrasonography may be done. It can reveal enlarged spleen (splenomegaly) or liver enlargement (hepatomegaly) or both (hepatosplenomegaly). Any cystic lesions on the spleen and liver or other abdominal organs can be best viewed in an abdominal CT scan. For associated pulmonary problems, investigations include chest X-ray, CT scan and pulmonary function tests to detect the problem and assess the respiratory function. Additional investigations like bronchoscopy, lymphangiography, etc. may be considered, if appropriate. For bone problems, x-rays and bone scans are done, which can reveal pathology in the bones. Involvement of spine may require x-rays, CT scan or MRI of the spine, to study the bones, muscles and nerve structures in the affected area. During any investigation, involving cystic lesions, effusions with fluid and chyle, splenomegaly, the possibility of splenic lymphangiomatosis must be considered.
The histological study of the spleen and biopsy can reveal the exact nature of changes in the tissues.
Treatment of Splenic Lymphangiomatosis
Treatment of splenic lymphangiomatosis is often symptomatic and depends on the areas affected and their severity. Treatment may include removal of excess accumulated fluid, particularly when lung involvement is present along with splenic lymphangiomatosis. Splenectomy or removal of spleen may be considered in some cases of splenic lymphangiomatosis.