Generalized Lymphatic Anomaly - Causes, Symptoms, Complications, Diagnosis, and Treatment

Introduction

Generalized lymphatic anomaly is a rare condition that refers to the abnormal growth of lymphatic vessels in the lungs, pleura, bones, and soft tissues. It is also known as lymphangiomatosis or diffuse pulmonary lymphangiomatosis. This is a noncancerous condition in which the abnormal growth of lymphatic vessels results in lymphatic malformations.

What Is a Generalized Lymphatic Anomaly?

Generalized lymphatic anomaly is a rare benign tumor that occurs due to the abnormal growth of the lymphatic system. It involves the lungs, pleura (membrane covering the lungs), bones, and soft tissues. It is a congenital disorder. The abnormal growth of lymphatic vessels leads to malformations that result in the formation of cysts. This increases in size and number and invades the surrounding tissues, compressing the adjacent structures.

What Does a Lymphatic System Mean?

The lymphatic system comprises a network of vessels, lymph nodes, lymphoid organs, and lymphoid tissues and forms a vital part of the circulatory system. The lymphatic vessels carry lymph fluid similar to blood. The lymph travels throughout the body through the lymph nodes and filters unwanted materials like bacteria and damaged cells.

It plays a vital role in the immune mechanism. It removes the interstitial fluid from the tissues. It plays a role in the absorption and transportation of fatty acids. It transports white blood cells to the bones. It also transports antigen-presenting cells like dendritic cells to the lymph nodes and stimulates an immune response.

What Causes Generalized Lymphatic Anomaly?

The cause of the generalized lymphatic anomaly is not known. It is a congenital condition due to the disturbance in lymphatic development before the 20th week of gestation. However, the exact cause remains unknown.

What Are the Symptoms of Generalized Lymphatic Anomaly?

Generalized lymphatic anomaly usually affects the lungs and the surrounding tissues. It can affect any region of the body, like the spleen, liver, and bones, but it does not affect the brain because lymphatic vessels are not present. There are no exact symptoms that refer to the lymphatic anomaly.

Symptoms around the lungs and chest are:

• Chest pain.

• Rapid heartbeat.

• Dizziness.

• Anxiety.

• Fever.

• Wheezing.

• Shortness of breath.

• Chronic cough.

• Coughing up blood.

• Recurrent respiratory infections.

The above symptoms are often misdiagnosed as asthma.

Symptoms in abdominal regions of the body are:

• Abdominal pain.

• Nausea.

• Vomiting.

• Diarrhea.

• Loss of appetite.

• Swelling.

• Fever.

If the kidneys are affected, it causes the following symptoms:

• Flank pain.

• Abdominal distension.

• Blood in the urine.

• Elevated blood pressure.

If the liver/spleen is affected, it causes the following symptoms:

• Abdominal fullness.

• Abdominal distension.

• Anemia.

• Disseminated intravascular coagulopathy.

• Ascites (fluid collection in the abdomen).

• Loss of appetite.

• Weight loss.

• Fatigue.

• Liver failure.

If the bones are affected, it causes the following symptoms:

• Bone pain.

• Numbness and tingling sensation due to compression of spinal nerves.

• Paralysis may occur due to progressive involvement of the spine.

What Are the Complications of Generalized Lymphatic Anomaly?

• Compression of adjacent structures in the chest.

• Compression of the spine leads to paralysis.

• Destruction of bones results in the formation of holes in the bones.

• Accumulation of chyle (lymph fluid and fat absorbed from the small intestine) in the pleural space (chylous pleural effusions).

• Chylothorax (accumulation of chyle in the chest).

• Chylopericardium (chyle trapped in the membrane surrounding the heart).

• Chylous Ascites (chyle trapped in the lining of the abdominal organs).

How Is Generalized Lymphatic Anomaly Diagnosed?

Diagnosis is based on clinical presentation, imaging techniques, and pulmonary function tests.

• Imaging Techniques - Computed tomography (CT), ultrasound, magnetic resonance imaging (MRI), and sonographic imaging techniques are used to diagnose generalized lymphatic anomalies. It reveals the location and severity of the involvement. CT scan helps to identify the pulmonary interstitial, septal, and mesenteric thickening, mediastinal tumors, pleural effusions, ground glass opacities, and cystic bone lesions. CT and MRI scans are used to detect lesions in the bone and soft tissues. The lesions appear as thickened cystic walls, and lesions in the bone appear translucent. Lesions in bones are identified in ribs, humerus, cervical, femur, and other long bones. X-rays show the presence of lytic lesions in bones, pathological fractures, interstitial infiltration in the lungs, and chylous effusions.

• Biopsy - Bone and lung biopsy is an effective diagnostic tool. Microscopic examination shows an increase in the size and number of the lymphatic vessels with lymphatic spaces lined by endothelial cells that involve the dermis, cutis, underlying fascia, and skeletal muscle.

• Pulmonary Function Tests reveal a restrictive and obstructive pattern based on abnormalities in the forced expiratory volume.

• Lymphangiography - An oil-based dye is injected into the lymphatics. It provides images of the lymphatics and helps to differentiate other forms of lymphatic disorders.

• Lymphoscintigraphy - It is a minimally invasive technique to identify the disease progression. It detects the direction of lymphatic flow and helps to differentiate normal and abnormal lymphatic vessels.

How Is Generalized Lymphatic Anomaly Treated?

The treatment is done to reduce the symptoms. The treatment varies with the abnormalities' severity, size, and location. Surgical treatment is required to manage the complications. It is effective in the management of localized lesions. The treatment varies with the parts of the body affected.

The treatment options include:

• Heart and Chest - Thoracocentesis, pericardiocentesis, and pleurodesis are performed to drain the fluid. Ligation of the thoracic duct, pleuroperitoneal shunt, pleurectomy, pericardial window, and pericardiectomy is the surgical procedures performed to manage the complications. Radiation therapy, chemotherapy, drugs like thalidomide, and interferon alpha 2b treat symptoms around the heart and chest. Total parenteral nutrition, medium-chain triglyceride, and a high-protein diet are recommended.

• Abdominal - Interferon alpha 2b, sclerotherapy, percutaneous drainage, Denver shunt, total parenteral nutrition, medium chain triglyceride, and a high protein diet are followed in the management of abdominal symptoms.

• Bone - Interferon alpha 2b, bisphosphonates, surgical resection, radiation therapy, bone grafts, sclerotherapy, percutaneous bone cement, and prostheses are used to manage bone lesions.

Conclusion

Generalized lymphatic anomaly is a rare congenital benign tumor of the lymphatic system. It shows a multifocal involvement. The treatment modalities depend on numerous factors. Therefore, a multidisciplinary approach is essential for diagnosis and treatment.