Lymphangioleiomyomatosis
Description
● General Background:
A rare multisystem disease that mostly affects the lungs but also affects the kidneys and lymphatics.
● Types:
➣ Sporadic LAM: caused by aberrant proliferation of smooth muscle-like cells, this condition happens without tuberous sclerosis.
➣ Congenital LAM is linked to tuberous sclerosis complex (TSC) mutations in the TSC1/TSC2 gene.
● Epidemiology:
➣ Primarily impacts women who are of reproductive age.
➣ In the US and Europe, the estimated incidence is about 1 per 1,000,000, which is probably underdiagnosed.
● Pathophysiology:
➣ The lymphatics, airway walls, and lung parenchyma all include an abundance of smooth muscle-like cells.
➣ mutations in the TSC gene that cause dysregulation of the mTOR (mammalian target of rapamycin) pathway.
➣ There are two types of cells: epithelioid polygonal cells and myofibroblast spindle cells.
➣ Chest discomfort, coughing, haemoptysis, spontaneous pneumothorax, and dyspnoea are typical clinical presentations.
● Case example:
➣ The patient is a 39-year-old woman who has a healthy lifestyle, doesn't smoke, works as a technology sales representative, and travels by air frequently.
➣ The main complaints are presyncope, dyspnoea, and sharp left-sided chest discomfort that radiates to the neck and back.
➣ History:
• No noteworthy family history, recent bronchitis, and chronic sinusitis.
• Pale, diaphoretic, respiratory discomfort, and 91% RA O₂ saturation were observed throughout the examination.
• Physical examination: reduced noises from the lungs, particularly the left one.
● Investigations:
➣ CT and chest X-ray: big left pneumothorax and severe emphysema.
➣ Workup: No angiomyolipoma on renal ultrasonography.
➣ HIV, lack of α1-antitrypsin: negative.
➣ Anti-SSA, anti-SSB, and ACE: normal or negative.
➣ ANA: 1:40, somewhat positive.
Protocol
● Emergency Management:
• Urgent pigtail thoracostomy for pneumothorax.
• oxygen via nasal cannula and chest tube.
• Surgery (because of suspected LAM and insurance problems):
• Pneumothorax recurrence prevention by chemical pleurodesis during video-assisted thoracoscopic surgery (VATS).
• Lower left lobe wedge resection.
• The pleural tent technique.
• Simple post-operative course; released on nasal O₂.
● Pathology Findings:
• Lung parenchyma with cysts is the gross specimen.
• Histology: Thickened interstitium lining cystic alterations.
• Spindle-to-bland epithelioid eosinophilic cells.
• Immunostains: Actin, progesterone receptor, human melanoma black antibody (HMB45), and microphthalmia transcription factor (MiTF) are all positive.
• Lymphangioleiomyomatosis (LAM) has been established as the diagnosis.
➣ Following the discharge and Aftercare
• At LAM Speciality Clinic, outpatient sirolimus (a mTOR inhibitor) was initiated.
• advised against flying since frequent flights increase the risk of pneumothorax.
• assessed for a bilateral lung transplant in the future.
• Chest X-ray at 2-month follow-up: no new pneumothorax, chronic emphysematous alterations, and hyperinflation.
● Clinical Problems and Medical Management:
➣ The following clinical issues are common in LAM patients:
• Bronchodilators, supplementary oxygen treatment, and pulmonary rehabilitation programs are used to treat progressive dyspnoea brought on by airway blockage and cystic abnormalities in the lungs.
• In order to prevent recurrence, spontaneous pneumothorax (collapsed lung) often necessitates the implantation of a chest tube and, in certain situations, surgical intervention such as pleurodesis.
• Chylous effusions are treated using interventional techniques to drain fluid and dietary changes such a low-fat diet supplemented with medium-chain triglycerides.
• mTOR inhibitors, which have been demonstrated to stabilise or enhance lung function in afflicted people, can pharmacologically reduce the course of the disease.
• respiratory failure, which in end-stage instances may need mechanical ventilation and, eventually, the possibility of lung transplantation.
● Nursing Problems and Interventions:
➣ Nurses are essential in helping patients with LAM in a number of ways:
• Impaired gas exchange: Maintaining airway patency and enhancing ventilation can be achieved by regular respiratory status evaluations, the delivery of prescribed oxygen, and posture to optimise lung expansion.
• Activity intolerance can be addressed by pulmonary rehabilitation activities to improve endurance, rest times, monitoring vital signs while engaging in activity, and promoting a gradual rise in activity levels.
• Risk factors for infection include upholding stringent infection control procedures, teaching patients proper hygiene habits, and keeping an eye out for early infection symptoms brought on by mTOR inhibitor-induced immunosuppression.
• Nutritional imbalance: Managing dietary requirements and preventing malnutrition can be achieved by working with nutritionists to give the right nutritional assistance (such as a low-fat diet for chylous effusion).
• Since chronic respiratory diseases frequently have an impact on mental health, it is important to provide emotional support, patient education about the illness, coping mechanisms, and assistance in accessing counselling or support groups for individuals experiencing anxiety and psychological discomfort.
• Complication monitoring and prevention: Continuous evaluation for pleural effusion, pneumothorax symptoms, and pharmacologic therapy side effects, as well as timely reporting and action.
Notes
For more details visit 10.7759/cureus.8386
