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Related Experiment Video

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Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting

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Published on: May 1, 2015

Lymphedema in tuberous sclerosis complex.

Alexandra L Geffrey¹, Julianna E Shinnick, Brigid A Staley

¹Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts.

American Journal of Medical Genetics. Part A

|March 27, 2014

Summary

This summary is machine-generated.

Tuberous Sclerosis Complex (TSC) is linked to lymphedema, a condition affecting fluid buildup. This study found a higher frequency of lymphedema in TSC patients, particularly females, suggesting a gender-specific manifestation.

Keywords:

edema lymphatic abnormalities lymphedema tuberous sclerosis complex

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Area of Science:

Genetics and rare diseases
Vascular disorders
Oncology

Background:

Tuberous Sclerosis Complex (TSC) is a genetic disorder affecting multiple organs.
Congenital lymphedema is a rare but reported association with TSC.
The mammalian target of rapamycin (mTOR) pathway is implicated in TSC pathogenesis.

Purpose of the Study:

To investigate the frequency and characteristics of lymphedema in a large cohort of Tuberous Sclerosis Complex patients.
To determine if lymphedema is more prevalent in TSC than in the general population.
To explore potential gender-specific patterns of lymphedema in TSC.

Main Methods:

Retrospective review of medical records for 268 Tuberous Sclerosis Complex patients.
Identification of cases with lymphedema or edema of unknown etiology.
Collection of genotypic and phenotypic data.

Main Results:

Ten new cases of lymphedema in TSC patients were identified (4% prevalence).
Two new cases of congenital lymphedema were reported, both in females.
Eight cases of acquired lymphedema were also found.
Patients with TSC and lymphedema were more likely to be female with renal angiomyolipomas (AMLs).

Conclusions:

Lymphedema occurs more frequently in Tuberous Sclerosis Complex patients than in the general population.
Congenital lymphedema in TSC appears to be a gender-specific (female) manifestation.
Further research into mTOR antagonists may be beneficial for treating lymphedema in TSC.