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Advanced Lymphangioleiomyomatosis (LAM)

Targeted mTOR-inhibitor therapy and transplantation for progressive lymphangioleiomyomatosis.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Göğüs Hastalıkları department. Book Appointment →

What is Advanced Lymphangioleiomyomatosis (LAM)?

Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease occurring sporadically or with tuberous sclerosis complex (TSC), in which abnormal smooth-muscle-like LAM cells with mTOR pathway hyperactivation infiltrate lungs, lymphatics and angiomyolipomas.

Patients—almost exclusively women—develop dyspnea, recurrent pneumothorax, chylous effusions and progressive obstructive lung disease; HRCT shows numerous thin-walled cysts diffusely distributed throughout the lungs.

Advanced therapy includes mTOR inhibitors (sirolimus, everolimus) for progressive disease, serum VEGF-D for diagnosis and monitoring, pleurodesis or talc poudrage for recurrent pneumothorax, dietary modification or thoracic-duct intervention for chylothorax, and lung transplantation in end-stage disease.

Symptoms

Progressive exertional dyspnea
Recurrent spontaneous pneumothorax
Chylothorax or chylous ascites
Cough and hemoptysis
Abdominal mass from angiomyolipoma
Unilateral renal mass on imaging
Postpartum or oral-contraceptive related symptom flares

Risk Factors

Female sex of reproductive age
Tuberous sclerosis complex (TSC1/TSC2 mutations)
Exogenous estrogens
Pregnancy may worsen disease
Smoking accelerates decline
Family history of TSC
Renal angiomyolipomas

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Recurrent pneumothorax in young woman
  • Chylothorax of unclear cause
  • Progressive dyspnea with cystic lung disease on HRCT
  • Renal mass with characteristic imaging
  • Family member with tuberous sclerosis
  • Need for VEGF-D testing
  • Pre-transplant evaluation

Treatment Methods

01
HRCT and serum VEGF-D for diagnosis
02
Sirolimus or everolimus for FEV1 decline or chylous complications
03
Pleurodesis (chemical or mechanical) for recurrent pneumothorax
04
Low-fat or medium-chain triglyceride diet for chylothorax
05
Embolization of angiomyolipomas larger than 4 cm
06
Avoidance of estrogen-containing therapies
07
Lung transplantation in end-stage progressive disease

Which Department to Visit?

You can visit our Göğüs Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Göğüs Hastalıkları Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.