Introduction
Lymphangioleiomyomatosis(LAM)isararedis-
ease that mainly affects women of reproductive age,
thatischaracterisedbyproliferationofatypicalmuscle
cells (LAM cells) around the airways, blood vessels
and lymphatic vessels, which can result in cystic de-
structionofthelungsandpulmonaryfunctionimpair-
ment.LAMmayoccurinsporadicformorinassocia-
tionwithtuberoussclerosiscomplex(TSC)(1,2).
LAM is clinically characterised by recurrent
spontaneous pneumothorax, progressive dyspnoea,
haemoptysis, and chylothorax (1-5). Extrapul-
monary manifestations include renal angiomyolipo-
mas, abdominal and pelvic masses along the axial
lymphatics (lymphangiomyomas), and chylous as-
cites (1, 2-4). The most common abnormalities
foundinpulmonaryfunctiontests(PFTs)includean
obstructive pattern, air trapping, and a reduction in
the diffusion capacity of the lungs for carbon
monoxide(DL
CO
)(4,6-8).
Clinical course and characterisation of
lymphangioleiomyomatosis in a Brazilian reference centre
B.GuedesBaldi,C.SalimG.Freitas,M.SponholzAraujo,O.MeiraDias,D.A.SilvaPereira,S.
PinheiroPimenta,R.A.Kairalla,C.R.RibeiroCarvalho
PulmonaryDivision,HeartInstitute(InCor),HospitaldasClínicas,UniversityofSaoPauloMedicalSchool,SaoPaulo,Brazil
Abstract. Background and objective: Lymphangioleiomyomatosis(LAM)isararediseasethatpromotespulmonary
cysticdestructionandimpairspulmonaryfunction.WeaimtodescribefeaturesandclinicalcourseofLAMpatients
from Brazil. Methods: We described the clinical and functional features, performance in six minute walk test
(6MWT),managementdetails,survivalandclinicalcourseof84LAMpatientsfollowedinaBrazilianreferencecen-
tre. Results: Allsubjectswerewomen,theaverageageatonsetofsymptomswas38years,andtheaverageatdiagno-
siswas42years.Themajorsymptomsduringthecourseofthediseaseweredyspnoeaandpneumothorax.Thepa-
tientsexperiencedimpairedqualityoflife,withworsescoresinthephysicalandemotionaldomains.Themostcom-
monabnormalitiesinpulmonaryfunctiontestswereanobstructivepatternandreduceddiffusioncapacity,whereas
aquarterofthepatientshadnormalspirometricresults.Inthe6MWT,althoughpatientshadpreservedexerciseca-
pacity,morethanhalfofthepatientshadsignificantdesaturation.Hormonalblockageanddoxycyclinewerethemost
commontreatmentmodalitiesemployedinourpatients.Thesurvivalprobabilityfromdiagnosiswas90%at5years,
whereasthemeanannualrateofdeclineinFEV1was60±78mL. Conclusions: Clinicalandfunctionalfeaturesof
theLAMpatientsfromourcentrearesimilartothosefromothercountries.Oursampleshowedpreservedexercise
capacity,withdesaturationinthe6MWT,andimpairedqualityoflife.Survivalwassimilar,whereastheannualrate
ofdeclineofFEV1wasslightlylowerthaninrecentstudies. (Sarcoidosis Vasc Diffuse Lung Dis 2014; 31: 129-135)
Key words: Angiomyolipoma;Brazil;lymphangioleiomyomatosis;Respiratoryfunctiontests;Survival
Received:15August2013
Correspondence:BrunoGuedesBaldi,M.D.,
Dr.EnéasdeCarvalho
AguiarAvenue,44,Fifthfloor,PostalCode05403-900,
SãoPaulo,Brazil.
Telephone:55112661-5695;Fax:55112661-5695
E-mail:bruno.guedes2@terra.com.br
Original article: Clinical Research
SARCOIDOSISVASCULITISANDDIFFUSELUNGDISEASES2014;31129-135 ©Mattioli1885