Sleep features in Lymphangioleiomyomatosis and their relationship with disease severity: a pilot study.

Lymphangioleiomyomatosis (LAM) is a rare pulmonary disease characterized by progressive airflow limitation. We conducted a pilot trial to investigate the incidence of sleep disorders, sleep quality and their relationship with disease severity. We performed pulmonary function tests, blood gas analysis, overnight 12-channels polysomnography and clinical assessments in 15 consecutive LAM patients. For statistics, p values < 0.05 were considered significant. Sleep efficiency (SE) was inversely correlated with RV/TLC (p = 0.035) and positively with daytime SpO2 (p = 0.010) and PaO2 (p = 0.011). Three cases had obstructive sleep apnea (OSA); seven patients (46.7%) showed a REMOSA. AHIREM was correlated with FEV1% (r = 0.75, p = 0.003), TLC% (r = 0.57, p = 0.026), RV% (r = 0.8, p=<0.0001) and RV/TLC (r = 0.77, p = 0.001). No correlations were observed between anxiety/depression and SE, CAP rate, pulmonary function test variables and AHIREM (p > 0.05). four subjects had nocturnal hypoxia (T90 ≥ 1% of TST) showing lower values of DLCO%, daytime SpO2%, PaO2, FEV1% and a higher value of VR/TLC comparing with the subgroup with normal T90 (p < 0.05). This pilot study shows that sleep alterations could be frequent in LAM and associated to disease severity. Nocturnal hypoxemia and SE were related to lung function impairment. A dysregulation of sleep seems to involve exclusively REM phase, while NREM appears to be preserved. This phenomenon might be linked to the pathophysiology of disease: our study, even with the limits of the small sample size, showed that the presence of REMOSA is related to the disease severity, in particular to the degree of airflow limitation and hyperinflation. More studies are needed to assess this topic.

Respiratory treatment in a patient with nemaline myopathy.

Respiratory involvement of nemaline myopathy is evident on the diaphragm and intercostal muscles function. The present case study aimed to describe the characteristics of the respiratory physiotherapeutic treatment in a patient with nemaline myopathy. Here, we describe a case of a 43-yearold woman with nemaline myopathy undergoing pulmonary rehabilitation during short hospital admission for an acute exacerbation. At the time of hospitalisation, the patient was already under oxygen therapy (1 L/min) and noninvasive home ventilation using bi-level positive airway pressure with a nasal interface. Supplementary therapeutic exercises were implemented in addition to daily nasal noninvasive ventilation. At discharge, ultrasound examination revealed increased diaphragm trophism if compared with data obtained at hospital admission.

Efficacy of hormonal suppression in a patient with chyluria due to lymphangioleiomyomatosis.

Lymphangioleiomyomatosis (LAM) is a rare lung disease affecting almost exclusively young women, characterised by abnormal proliferation of atypical smooth muscle cells. We describe a young woman presenting with chyluria secondary to the presence of a large retroperitoneal lymphangioleiomyoma. Immunohistochemical analysis revealed HMB45-negative LAM cells (HMB45 staining is absent only in rare cases) expressing low levels of estrogen receptors. Estrogen suppressive treatment with triptoreline, a synthetic analogue of Gn-RH, resulted in dramatic reduction of the retroperitoneal mass size. The role of estrogens in the pathogenesis of LAM remains poorly understood, and hormonal therapy is still debated, but this case suggests that at least in some LAM patients, possibly those with HMB45-negative disease and estrogen receptor expression, hormonal therapy may be effective in controlling the disease process.