Abstract
BackgroundLymphangioleiomyomatosis is a rare disease occurring almost exclusively in women. Diagnosis often requires surgical biopsy and the clinical course varies between patients with no predictors of progression. We evaluated recent diagnostic guidelines, clinical features and serum biomarkers as diagnostic and prognostic tools.MethodsSerum vascular endothelial growth factor-D (VEGF-D), angiotensin converting enzyme (ACE), matrix metalloproteinases (MMP) -2 and -9, clinical phenotype, thoracic and abdominal computerised tomography, lung function and quality of life were examined in a cohort of 58 patients. 32 healthy female controls had serum biomarkers measured.ResultsSerum VEGF-D, ACE and total MMP-2 levels were elevated in patients. VEGF-D was the strongest discriminator between patients and controls (median = 1174 vs. 332 pg/ml p < 0.0001 with an area under the receiver operating characteristic curve of 0.967, 95% CI 0.93-1.01). Application of European Respiratory Society criteria allowed a definite diagnosis without biopsy in 69%. Adding VEGF-D measurement to ERS criteria further reduced the need for biopsy by 10%. VEGF-D was associated with lymphatic involvement (p = 0.017) but not the presence of angiomyolipomas.ConclusionsCombining ERS criteria and serum VEGF-D reduces the need for lung biopsy in LAM. VEGF-D was associated with lymphatic disease but not lung function.
Highlights
Lymphangioleiomyomatosis is a rare disease occurring almost exclusively in women
receiver operator characteristic (ROC) analysis showed vascular endothelial growth factor-D (VEGF-D) to be the strongest discriminator between those with LAM and controls (area under curve (AUC) 0.967 ± 0.02, 95% CI 0.9271.007) when compared with angiotensin converting enzyme (ACE) (AUC 0.671 ± 0.069, 95% CI 0.538-0.805), matrix metalloproteinases (MMP)-2 (AUC 0.714 ± 0.064, 95% CI 0.590-0.839) and MMP-9 (AUC 0.641 ± 0.069, 95% CI 0.505-0.777) (Figure 1)
VEGF-D is a marker for lymphatic involvement but not angiomyolipomas As VEGF-D is a lymphangiogenic protein we examined if patients with lymphatic involvement had higher levels of VEGF-D than other patients
Summary
Lymphangioleiomyomatosis is a rare disease occurring almost exclusively in women. Diagnosis often requires surgical biopsy and the clinical course varies between patients with no predictors of progression. We evaluated recent diagnostic guidelines, clinical features and serum biomarkers as diagnostic and prognostic tools. Lymphangioleiomyomatosis (LAM) is a rare lung disease which almost exclusively affects women and generally presents before the menopause [1,2]. It can occur sporadically or in association with the genetic condition tuberous sclerosis complex (TSC): both sporadic and TSC-LAM are associated with mutations in the TSC genes[3]. Obstruction of axial lymphatics by LAM cells can cause lymphadenopathy and chylous collections[4].
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