Lymphatic Anomalies Flashcards
What is the definition of lymphatic malformations?
Lymphatic malformations are caused by abnormal development of lymphatic channels, leading to cystic dilation of lymphatic tissue. These can be microcystic (<5mm) or macrocystic.
What is the incidence of lymphatic malformations?
Lymphatic malformations occur in approximately 1 in 5,000 live births. Antenatally diagnosed lesions may spontaneously involute or be associated with spontaneous abortion.
When do lymphatic malformations typically present?
Most lymphatic malformations present by 2 years of age and are usually noted at birth.
Where is the most common site for lymphatic malformations?
The posterior cervical triangle is the most common site, but lesions can cross the midline of the neck and occur anywhere in the body.
What is the characteristic appearance of lymphatic malformations?
Lesions typically transilluminate, are painless, and may present as cystic swellings, especially after an infection increases lymphatic flow to the area.
How do lymphatic malformations present in smaller lesions or those in other parts of the body?
Smaller lesions or those in other areas (20%) may present as cystic swellings later, particularly after infection that increases lymphatic flow in the drainage region.
What diagnostic methods are used for lymphatic malformations?
Ultrasound and frequently MRI are used to define the anatomical extent of the lesion and to distinguish between microcystic and macrocystic characteristics.
What complication can occur in lymphatic malformations?
Superinfection of the lesion can occur, causing associated erythema and pain, though this is not common.
Why is excision of lymphatic malformations often difficult?
Lymphatic malformations occur early in embryonic development and transgress tissue planes, making excision difficult. Surgery may be required for airway management or to debulk or resect the lesion when feasible, but cosmetic or functionally disfiguring surgery is usually not indicated.
What is the preferred treatment for lymphatic malformations?
More conservative treatments are usually preferred, including sclerotherapy with pro-inflammatory agents like bleomycin or alcohol.
How is sclerotherapy performed for lymphatic malformations
Sclerotherapy involves aspiration of the fluid from the cyst(s), followed by the instillation of pro-inflammatory agents such as bleomycin or alcohol. This procedure is typically performed under ultrasound guidance, with treatments repeated 3-6 weeks based on the response.
What are the potential risks of using alcohol in sclerotherapy
Alcohol can cause significant tissue necrosis if there is leakage along the needle tract, although it has fewer systemic side effects compared to other agents.
What is the role of Sirolimus in the treatment of lymphatic malformations?
Sirolimus, an mTOR inhibitor, is emerging as a novel treatment for large, disfiguring multicystic lymphatic malformations. It can help reduce the size of the lesions for safer surgical resection, though data on its efficacy is currently limited.
What monitoring is required when using Sirolimus for lymphatic malformations?
Therapeutic drug levels, lipid profile, and neutrophil count need to be monitored when using Sirolimus, and future studies will help determine which patients benefit most from this therapy.
When does primary lymphoedema typically present?
Primary lymphoedema typically presents during childhood to puberty, with pitting oedema of one or both limbs, usually in the lower leg, and a female preponderance.
What is the pathology of primary lymphoedema?
Primary lymphoedema is caused by malformation of the lymphatic drainage of the limb, which may involve small fibrotic lymph nodes and progressive obliteration of lymphatics in some cases.
How is primary lymphoedema diagnosed?
Diagnosis is supported by clinical history and findings, with ultrasound and MRI used to corroborate the diagnosis and exclude secondary (obstructive) causes of lymphoedema.
What is the mainstay of treatment for primary lymphoedema?
The mainstay of treatment includes compressive bandaging, elastic pressure garments, elevation, massage, and attention to hygiene to prevent skin ulceration or cellulitis.
Is surgical intervention commonly required for primary lymphoedema?
Surgical intervention is rarely indicated for primary lymphoedema.
What multidisciplinary care is important in managing primary lymphoedema?
Multidisciplinary care involving occupational therapy and physiotherapy is important in managing primary lymphoedema.
