RESUMEN
BACKGROUND: The present article is an English-language version of the French National Diagnostic and Care Protocol, a pragmatic tool to optimize and harmonize the diagnosis, care pathway, management and follow-up of lymphangioleiomyomatosis in France. METHODS: Practical recommendations were developed in accordance with the method for developing a National Diagnosis and Care Protocol for rare diseases of the Haute Autorité de Santé and following international guidelines and literature on lymphangioleiomyomatosis. It was developed by a multidisciplinary group, with the help of patient representatives and of RespiFIL, the rare disease network on respiratory diseases. RESULTS: Lymphangioleiomyomatosis is a rare lung disease characterised by a proliferation of smooth muscle cells that leads to the formation of multiple lung cysts. It occurs sporadically or as part of a genetic disease called tuberous sclerosis complex (TSC). The document addresses multiple aspects of the disease, to guide the clinicians regarding when to suspect a diagnosis of lymphangioleiomyomatosis, what to do in case of recurrent pneumothorax or angiomyolipomas, what investigations are needed to make the diagnosis of lymphangioleiomyomatosis, what the diagnostic criteria are for lymphangioleiomyomatosis, what the principles of management are, and how follow-up can be organised. Recommendations are made regarding the use of pharmaceutical specialties and treatment other than medications. CONCLUSION: These recommendations are intended to guide the diagnosis and practical management of pulmonary lymphangioleiomyomatosis.
Asunto(s)
Angiomiolipoma , Neoplasias Pulmonares , Linfangioleiomiomatosis , Esclerosis Tuberosa , Humanos , Linfangioleiomiomatosis/diagnóstico , Linfangioleiomiomatosis/terapia , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/terapia , Neoplasias Pulmonares/genética , Esclerosis Tuberosa/diagnóstico , Esclerosis Tuberosa/terapia , Esclerosis Tuberosa/genética , Pulmón , Angiomiolipoma/tratamiento farmacológicoRESUMEN
BACKGROUND: Successful treatment of acromegaly improves disease-related cardiovascular mortality and morbidity, but its effects on autonomic modulation of the heart rate are unknown. OBJECTIVES: We documented treatment-induced changes in time-domain heart rate variability, taking into account the confounding effects of obstructive sleep apnea. PATIENTS AND METHODS: Sixteen consecutive patients (12 males, aged 43 ± 12 y) with newly diagnosed acromegaly underwent overnight (12:00-7:00 am) cardiac Holter recordings coupled with polysomnography. Data were obtained before and 10 ± 6 months after successful treatment of acromegaly. RESULTS: IGF-1 levels fell from 807 ± 333 to 207 ± 69 µg/L and normalized in all patients. Seven patients (44%) had obstructive sleep apnea (apnea-hypopnea index 33 ± 21/h) at baseline. Treatment had no significant effect on polysomnographic indices. After treatment, increases were noted in the normal-to-normal heart period (NN), SD-NN, the percentage of NN differing from the previous NN by greater than 50 msec, and the root mean square of successive differences in NN (each P < .05). These heart rate variability results were not influenced by the type of treatment, and there was no relationship between changes in NN and changes in the apnea-hypopnea index (P = .58). CONCLUSION: Early after successful treatment of acromegaly, we observed increased parasympathetic modulation/decreased sympathetic modulation of the nighttime heart rate, an effect that seems unrelated to changes in sleep apnea status. Treatments aimed at normalizing IGF-1 may improve cardiovascular homeostasis through improved cardiac autonomic nervous system modulation.