Subject(s)
Airway Obstruction/surgery , Bronchi/injuries , Polychondritis, Relapsing/complications , Stents/adverse effects , Tracheobronchomalacia/surgery , Airway Obstruction/etiology , Bronchi/surgery , Bronchoscopy , Dyspnea/etiology , Dyspnea/surgery , Humans , Male , Middle Aged , Pneumonectomy , Polychondritis, Relapsing/surgery , Recurrence , Rupture/etiology , Rupture/surgery , Subcutaneous Emphysema/etiology , Tracheobronchomalacia/complications , Tracheobronchomalacia/etiologyABSTRACT
This retrospective, multicentre study evaluated patients with lymphangioleiomyomatosis (LAM) and pre-capillary pulmonary hypertension (PH) by right heart catheterisation. It was conducted in 20 females with a mean ± SD age of 49 ± 12 yrs and a mean ± SD time interval between LAM and PH diagnoses of 9.2 ± 9.8 yrs. All, except for one patient, were receiving supplemental oxygen. 6-min walking distance was mean ± SD 340 ± 84 m. Haemodynamic characteristics were: mean pulmonary artery pressure (PAP) 32 ± 6 mmHg, cardiac index 3.5 ± 1.1 L · min(-1) · m(-2) and pulmonary vascular resistance (PVR) 376 ± 184 dyn · s · cm(-5). Mean PAP was >35 mmHg in only 20% of cases. The forced expiratory volume in 1 s was 42 ± 25%, carbon monoxide transfer factor was 29 ± 13%, and arterial oxygen tension (P(a,O(2))) was 7.4 ± 1.3 kPa in room air. Mean PAP and PVR did not correlate with P(a,O(2)). In six patients who received oral pulmonary arterial hypertension (PAH) therapy, the PAP decreased from 33 ± 9 mmHg to 24 ± 10 mmHg and the PVR decreased from 481 ± 188 dyn · s · cm(-5) to 280 ± 79 dyn · s · cm(-5). The overall probability of survival was 94% at 2 yrs. Pre-capillary PH of mild haemodynamic severity may occur in patients with LAM, even with mild pulmonary function impairment. PAH therapy might improve the haemodynamics in PH associated with LAM.
Subject(s)
Hypertension, Pulmonary/physiopathology , Lymphangioleiomyomatosis/physiopathology , Adult , Breath Tests , Carbon Monoxide/analysis , Cardiac Catheterization , Exercise Test , Female , Hemodynamics , Humans , Hypertension, Pulmonary/mortality , Hypertension, Pulmonary/therapy , Lymphangioleiomyomatosis/mortality , Lymphangioleiomyomatosis/therapy , Middle Aged , Oxygen/blood , Oxygen/therapeutic use , Respiratory Function Tests , Retrospective Studies , Vascular Resistance/physiologyABSTRACT
BACKGROUND: A relative inability to capture a sufficiently large patient population in any one geographic location has traditionally limited research into rare diseases. METHODS AND RESULTS: Clinicians interested in the rare disease lymphangioleiomyomatosis (LAM) have worked with the LAM Treatment Alliance, the MIT Media Lab, and Clozure Associates to cooperate in the design of a state-of-the-art data coordination platform that can be used for clinical trials and other research focused on the global LAM patient population. This platform is a component of a set of web-based resources, including a patient self-report data portal, aimed at accelerating research in rare diseases in a rigorous fashion. CONCLUSIONS: Collaboration between clinicians, researchers, advocacy groups, and patients can create essential community resource infrastructure to accelerate rare disease research. The International LAM Registry is an example of such an effort. 82.
Subject(s)
Lymphangioleiomyomatosis/therapy , Rare Diseases/therapy , Registries , Clinical Trials as Topic , Computer-Assisted Instruction , Humans , Lymphangioleiomyomatosis/diagnosis , Lymphangioleiomyomatosis/genetics , Rare Diseases/diagnosis , Rare Diseases/geneticsABSTRACT
Pulmonary lymphangioleiomyomatosis (LAM) is a rare interstitial disorder affecting exclusively women, and leading to progressive deterioration of lung function. The disease course is highly variable from one patient to another, but no clinical predictor of rapid disease progression is currently available. To identify clinical variables, which could detect patients at risk for rapid lung function decline, we searched for correlations between the rate of forced expiratory volume in 1 s (FEV1) decline and clinical features at diagnosis in a retrospective series of 31 cases of LAM followed for > or = 1 yr. The mean FEV1 decline was 106+/-143 ml/yr or 3.4+/-4.6% predicted FEV1/yr. Among clinical features at diagnosis, only initial values of carbon monoxide transfer factor (TLCO, P = 0.006) and carbon monoxide transfer coefficient (KCO, P = 0.0001) were significantly correlated with the rate of FEV1 decline. Lung volumes and FEV1/forced vital capacity ratio at diagnosis were not predictive of rapid decline. No effect of previous smoking, contraceptive use or pregnancy on FEV1 decline could be detected. We conclude that low TLCO and KCO at the time of diagnosis are the best clinical predictors of rapid FEV1 decline in patients with LAM.
