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Related Concept Videos

Pulmonary Hypertension: Classification and Pathogenesis01:30

Pulmonary Hypertension: Classification and Pathogenesis

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Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
423

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[Pulmonary lymphangioleiomyomatosis (LAM)].

D Theegarten1, T Hager2

  • 1Institut für Pathologie, Universitätsklinikum Essen, Hufelandstr. 55, 44145, Essen, Deutschland. Dirk.Theegarten@uk-essen.de.

Der Pathologe
|January 9, 2021
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Summary

Lymphangioleiomyomatosis (LAM) is a rare lung disease primarily affecting women. Early diagnosis and treatments like mTORC1 inhibitors offer a favorable prognosis, with lung transplantation as an option for severe cases.

Keywords:
LymphangioleiomyomatosisRenal angiomyolipomaTSC1 geneTSC2 geneTuberous sclerosis

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Area of Science:

  • Pulmonology
  • Genetics
  • Oncology

Background:

  • Lymphangioleiomyomatosis (LAM) is a rare pulmonary disease predominantly affecting females.
  • It is characterized by mutations in TSC-1 and TSC-2 genes, presenting sporadically or with tuberous sclerosis complex (TSC).
  • Pulmonary multicysts and LAM cell proliferations are key morphological features.

Purpose of the Study:

  • To provide a comprehensive overview of Lymphangioleiomyomatosis (LAM).
  • To discuss the genetic basis, clinical manifestations, and diagnostic characteristics of LAM.
  • To outline current and potential therapeutic strategies and prognostic factors.

Main Methods:

  • Literature review of LAM pathogenesis, clinical presentation, and treatment.
  • Analysis of characteristic morphological findings in pulmonary LAM.
  • Review of associated conditions like renal angiomyolipoma and facial angiofibroma in TSC-associated LAM.

Main Results:

  • LAM presents with pulmonary cysts and micronodal proliferations, often with renal angiomyolipomas.
  • Mutations in TSC-1 and TSC-2 genes are central to LAM development.
  • The 10-year survival rate is 80%, improvable with mTORC1 inhibitors.

Conclusions:

  • LAM is a rare but treatable lung disease with a generally favorable prognosis.
  • Genetic mutations and characteristic morphological findings aid diagnosis.
  • Advances in treatment, including mTORC1 inhibitors and lung transplantation, improve patient outcomes.