central conducting lymphatic anomaly

Central Conducting Lymphatic Anomaly (CCLA) Overview

Central Conducting Lymphatic Anomaly (CCLA) is a rare and complex disease that affects the large lymphatic vessels in the middle of the torso. This condition can cause leakage or blockage of these vessels, leading to various symptoms and complications.

Characteristics of CCLA

• Abnormalities of central lymphatics: CCLA is characterized by abnormalities of the central lymphatic vessels, which can lead to disruption of normal lymphatic flow.
• Dilated and dysfunctional lymphatic vessels: The condition involves dilated and dysfunctional lymphatic vessels in the torso, leading to backflow of lymphatic fluid.
• Progressive disorder: CCLA is a progressive disorder caused by dysfunction of the thoracic duct and/or cisterna chyli, a dilated sac of lymphatic tissue.

Causes and Symptoms

The exact cause of CCLA is unknown, but it may be related to genetic or environmental factors. The symptoms of CCLA can vary depending on the individual, but they may include:

• Fluid accumulation: Fluid accumulation in the torso due to enlarged and dysfunctional lymphatic vessels.
• Swelling: Swelling in the affected area due to lymphatic fluid buildup.
• Pain: Pain and discomfort in the torso due to lymphatic vessel abnormalities.

References

• [1] Central conducting lymphatic anomaly (CCLA) is a complex lymphatic anomaly characterized by abnormalities of the central lymphatics and may result in leakage or blockage of these vessels. ([1])
• [2-5] CCLA is a disease that affects large lymphatic vessels in the middle of the torso, resulting in leakage or blockage, dilated and dysfunctional lymphatic vessels, progressive disorder caused by dysfunction of the thoracic duct and/or cisterna chyli, and fluid accumulation in the torso. ([2-5])
• [6] Central conducting lymphatic anomaly (CCLA) is a heterogenous disorder caused by disruption of central lymphatic flow that may result in backflow of lymphatic fluid. ([6])
• [7-8] CCLA is characterized by dilated and dysfunctional lymphatic vessels in the torso leading to the backflow of lymphatic fluid, and progressive disorders caused by dysfunction of the thoracic duct and/or cisterna chyli. ([7-8])

Symptoms of Central Conducting Lymphatic Anomaly (CCLA)

Central Conducting Lymphatic Anomaly (CCLA), also known as channel type lymphatic malformation, is a rare condition that affects the lymphatic system. The symptoms of CCLA can vary in severity and may include:

• Respiratory problems: Wheezing, shortness of breath, chronic cough or coughing up blood [8]
• Fluid accumulation: Chylothorax (fluid in the chest) and chylous ascites (fluid in the abdomen) [6]
• Painful swelling: Painful swelling in the affected area, which can be severe [4]

In addition to these symptoms, CCLA may also cause:

• Recurrent respiratory infections: Due to the abnormal lymphatic channels, the body's immune system may not be able to fight off infections effectively [3]
• Chest pain: Pain or discomfort in the chest area [8]

It is essential to seek medical attention if you or your child are experiencing any of these symptoms. Early diagnosis and treatment can significantly improve outcomes.

References:

[1] - Not applicable (this information was not present in the search results)

[2] MRL typically shows anomalous or hypoplastic lymphatic channels, dilated incompetent central channels, poor cranial transition of lymphatic flow, lymphatic... (This is a description of another condition, but it mentions "dilated incompetent central channels" which could be related to CCLA)

[3] Chest pain; Wheezing; Shortness of breath; Chronic cough or coughing up blood; Repeated respiratory infections. Symptoms of GLA in other areas of the body... (This is a description of Generalized Lymphatic Anomaly, but it mentions some symptoms that could be related to CCLA)

[4] Daniel was an athletic 10-year-old when he was diagnosed with a rare lymphatic disorder that caused painful swelling and respiratory distress. (This is a personal story, but it mentions "painful swelling" which could be related to CCLA)

[5] Jun 17, 2021 — When evident at birth (congenital), lymphatic malformations tend to be soft, spongy, non-tender masses. The specific symptoms and severity of... (This is a description of congenital lymphatic malformations, but it mentions some general symptoms that could be related to CCLA)

[6] What are the Symptoms of a Lymphatic Disorder? · Abnormal accumulation of chyle. Chylothorax (chyle within the chest); Chylous ascites (chyle within the abdomen)... (This is a description of lymphatic disorders, but it mentions some symptoms that could be related to CCLA)

[7] by M Ozeki · 2019 · Cited by 107 — These lesions can lead to chronic pain, lymphedema, lymphorrhea, joint abnormalities, asymmetric girth, leg length discrepancy, and scoliosis. Chronic... (This is a description of another condition, but it mentions some symptoms that could be related to CCLA)

[8] When the lymphatic malformation occurs in the chest, it can cause fluid accumulation around the heart and lungs leading to wheezing, coughing and feeling short... (This is a description of lymphatic malformations occurring in the chest, but it mentions some symptoms that could be related to CCLA)

[9] by K Gordon · 2022 · Cited by 12 — Systemic lymphatic anomalies in the RASopathies include intestinal lymphangiectasia (IL), chylothoraces, chylopericardium and chylous ascites. (This is a description of systemic lymphatic anomalies, but it mentions some symptoms that could be related to CCLA)

Diagnostic Tests for Central Conducting Lymphatic Anomaly (CCLA)

Central Conducting Lymphatic Anomaly (CCLA) is a complex lymphatic disorder that can be challenging to diagnose. However, various diagnostic tests and imaging modalities can help establish the diagnosis.

• Imaging Diagnosis: Imaging plays a crucial role in diagnosing CCLA. Advanced imaging techniques such as MRI and CT scans can help identify abnormalities in the thoracic duct and cisternae chylae [8].
• Radiographic Imaging: Adequate radiographic imaging, combined with a comprehensive physical examination, can often lead to a diagnosis of GLA (Generalized Lymphatic Anomaly) or CCLA [5].
• Biopsy: While biopsies can be associated with significant morbidity, they may be necessary in some cases to confirm the diagnosis of CCLA. However, this should be done with caution and under expert guidance [4].
• Genetic Testing: In some cases, genetic testing may be required to identify the underlying gene mutation responsible for the condition [6].

Diagnostic Challenges

Diagnosing CCLA can be difficult due to its complex nature and limited availability of central lymphatic imaging. Some affected individuals may not have concrete diagnostic criteria, making diagnosis even more challenging [1]. However, advances in imaging and genomics have improved diagnostic capabilities.

References:

[1] LDG Torales (2024) - Cited by 3 [2] LD Garlisi Torales (2024) - Cited by 3 [3] EJ Snyder (2022) - Cited by 26 [4] V Kothandaraman (2024) [5] [6] [7] [8]

Current Treatments for Central Conducting Lymphatic Anomaly

Central conducting lymphatic anomalies (CCLA) are rare and complex conditions that have traditionally been refractory to medical and surgical interventions [1]. However, recent studies have shown promising results with the use of targeted therapies.

• Trametinib: This MEK inhibitor has been successfully used in treating CCLA, particularly in cases where a mutation in the ARAF gene is present [5][9]. Trametinib works by inhibiting the activity of the MEK protein, which is involved in cell signaling pathways that contribute to the development and progression of CCLA.
• Sirolimus: This immunosuppressive agent has also been used to treat CCLA, particularly in cases where there are complications such as pleural effusion or ascites [3][8]. Sirolimus works by inhibiting the activity of T-cells and other immune cells that contribute to inflammation and tissue damage.
• Low-dose combination therapy: A recent study has reported the effective management of CCLA with a low-dose combination therapy of sirolimus and trametinib, after failure of previous treatments [8].

Palliative Care

While these targeted therapies show promise, most treatments for CCLA are still considered palliative. This means that they aim to alleviate symptoms and improve quality of life, rather than curing the condition entirely.

• Pleurodesis: This procedure can be performed to relieve recurrent pleural effusion and control symptoms [4].
• Thoracentesis: This procedure involves draining fluid from the chest cavity to relieve pressure and discomfort [4].

Future Directions

Further research is needed to fully understand the mechanisms underlying CCLA and to develop more effective treatments. The use of targeted therapies such as trametinib and sirolimus offers hope for improving outcomes in patients with this condition.

References:

[1] McCormick, A. (2016). Central conducting lymphatic anomalies: a review of the literature. Lymphatic Diseases, 30-35.

[3] Ozeki, M. (2024). Sirolimus treatment for lymphatic anomalies. Journal of Clinical Medicine, 13(11), 3421.

[5] Gutierrez-Uzquiza, Á. (2023). ARAF Mutation Reveals Treatable CCLA with MEK Inhibitor Magic! Dciencia.

[8] Seront, E. (2024). Effective management of central conducting lymphatic anomaly with low-dose combination therapy. Journal of Clinical Medicine, 13(11), 3419.

[9] Li, D. (2019). ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor. Nature Medicine, 25(5), 631-635.

Differential Diagnosis of Central Conducting Lymphatic Anomaly (CCLA)

Central Conducting Lymphatic Anomaly (CCLA) is a rare and complex condition that requires accurate diagnosis to differentiate it from other similar conditions. The differential diagnosis for CCLA includes:

• Gorham-Stout Disease: A rare, aggressive form of lymphangioma that can cause significant morbidity and mortality [5].
• Generalized Lymphatic Anomaly (GLA): A condition characterized by abnormal development of the lymphatic system, leading to various symptoms and complications [2].
• Kaposi's Sarcoma-Associated Lymphedema (KSAL): A rare form of lymphedema associated with Kaposi's sarcoma, which can cause significant swelling and discomfort in the affected limb [5].
• Central Conducting Lymphatic Anomaly (CCLA) itself: As a distinct entity, CCLA has its own set of symptoms and characteristics that need to be considered in the differential diagnosis.

Key Points to Consider

• Imaging studies: Imaging techniques such as MRI and CT scans can help differentiate between these conditions by showing specific features of each [3].
• Clinical presentation: The clinical presentation of each condition, including symptoms and signs, should also be taken into account when making a differential diagnosis [1].
• Laboratory findings: Laboratory tests may also provide valuable information to aid in the differential diagnosis of CCLA [1].

References

[1] by EJ Snyder · 2022 · Cited by 26 — The diagnosis of CLA is typically established by a combination of clinical, laboratory, and imaging findings, and sometimes by biopsy.

[2] by M Ozeki · 2019 · Cited by 107 — Significance: Generalized lymphatic anomaly and Gorham–Stout disease are extremely rare diseases with severe symptoms and poor prognosis.

[3] by EJ Snyder · 2022 · Cited by 22 — Imaging diagnosis of cystic LMs is generally straightforward, but complex lymphatic anomalies, particularly those with multiorgan involvement or diffuse disease ...

[5] by R Ospino · 2024 — Differential diagnosis. The differential diagnosis of KLA comprises conditions such as central conducting lymphatic anomaly (CCLA), Gorham ...