High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex
LC Costello, TE Hartman, JH Ryu - Mayo Clinic Proceedings, 2000 - Elsevier
LC Costello, TE Hartman, JH Ryu
Mayo Clinic Proceedings, 2000•ElsevierObjective To determine the frequency of pulmonary lymphangioleiomyomatosis (LAM), a
rare cystic lung disorder that occurs almost exclusively in women of reproductive age, in
women with tuberous sclerosis complex (TSC), an inheritable multiorgan hamartomatosis.
Patients and Methods In this retrospective cohort study, the medical records of 78 women
with definite TSC were reviewed, and pertinent information was recorded, including the
demographic data, clinical manifestations, results of lung biopsies and autopsies, and …
rare cystic lung disorder that occurs almost exclusively in women of reproductive age, in
women with tuberous sclerosis complex (TSC), an inheritable multiorgan hamartomatosis.
Patients and Methods In this retrospective cohort study, the medical records of 78 women
with definite TSC were reviewed, and pertinent information was recorded, including the
demographic data, clinical manifestations, results of lung biopsies and autopsies, and …
Objective
To determine the frequency of pulmonary lymphangioleiomyomatosis (LAM), a rare cystic lung disorder that occurs almost exclusively in women of reproductive age, in women with tuberous sclerosis complex (TSC), an inheritable multiorgan hamartomatosis.
Patients and Methods
In this retrospective cohort study, the medical records of 78 women with definite TSC were reviewed, and pertinent information was recorded, including the demographic data, clinical manifestations, results of lung biopsies and autopsies, and findings on imaging studies of the chest and abdomen. All available computed tomographic (CT) scans of the chest and abdomen were reviewed.
Results
Of 78 women with definite TSC seen from 1977 to 1998, 20 (26%) had evidence of LAM. Surgical lung biopsy or autopsy in 7 patients confirmed the diagnosis of their lung disease. Characteristic CT findings of LAM were noted in 13 additional patients. Twelve of these 20 patients with TSC-associated LAM had respiratory symptoms, including exertional shortness of breath and spontaneous pneumothorax, that eventually led to their pulmonary diagnosis.
Conclusions
The frequency of lung involvement (LAM) in women with TSC is substantially higher than previously suspected and may be even higher than reported in this retrospective study. These findings support the recommendation for a screening CT of the chest for all women with TSC.
Elsevier