Lymphangioleiomyomatosis: differential diagnosis and optimal management.

[lymphangioleiomyomatosis]

Lymphangioleiomyomatosis (LAM ) is an uncommon disease presented as diffuse thin -walled cystic changes in the lung . The main differential diagnoses include pulmonary Langerhans ' histiocytosis (PLCH ), Birt-Hogg-Dubé syndrome (BHD ), lymphoid interstitial pneumonia (LIP ), and amyloidosis . A combination of clinical , radiological , and pathological approaches as well as genetic testing will clarify the diagnosis in most cases . LAM is a disease almost exclusively in women . Dyspnea , pneumothorax , and hemoptysis are common presentations in LAM patients . LAM is also a lymphatic disorder affecting lymphatic vessels and lymph nodes . Chylothorax , chylous ascites , and lymphangiomyomas are frequently seen . LAM can present sporadically as a single entity or as part of tuberous sclerosis complex (TSC ). Angiomyolipoma (AML ) is a characteristic extra -pulmonary lesion , either found in association with sporadic or TSC-related LAM . High -risk populations should be screened for LAM , including adult women with TSC and female patients with spontaneous pneumothorax , AMLs in the kidney , and diffuse cystic lung diseases . Definitive diagnosis of LAM is based on a high level of clinical suspicion on presentation supported by pathological findings or by a distinct feature , such as a history of TSC , AMLs in the kidney , chylothorax , or chylous ascites . Vascular endothelial growth factor -D (VEGF-D ) in serum is a noninvasive and reliable diagnostic biomarker . In experienced centers , trans-bronchial lung biopsy (TBLB ) provides a convenient and safe way to obtain lung specimens for diagnostic purposes . An effective treatment for LAM is now available , namely using a mechanistic target of rapamycin (mTOR ) inhibitor such as sirolimus . Efficacy of sirolimus has been confirmed in clinical trials . Research in other molecular-targeted therapies is under investigation . A previously little-known rare disease with no cure is now better understood with regards to its pathogenesis , diagnosis , and management . In this review , current knowledge in diagnosis and differential diagnosis of LAM will be discussed , followed by the discussion of therapy with mTOR inhibitors .

Diseases
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Diseases presenting "female patients" symptom

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carcinoma of the gallbladder

classical phenylketonuria

congenital adrenal hyperplasia

cushing syndrome

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esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

heparin-induced thrombocytopenia

lymphangioleiomyomatosis

oligodontia

papillon-lefèvre syndrome

phenylketonuria

pyruvate dehydrogenase deficiency

sneddon syndrome

trochlear dysplasia

von hippel-lindau disease

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

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