Severe pulmonary hypertension in pulmonary alveolar microlithiasis: A comprehensive literature review.
Curr Probl Cardiol
; 49(5): 102453, 2024 May.
Article
en En
| MEDLINE
| ID: mdl-38342349
ABSTRACT
This review focuses on Pulmonary Alveolar Microlithiasis (PAM), an autosomal recessive genetic disorder characterized by calcium crystal deposits (microliths) resulting from loss of function of the SLC34A2 gene. PAM is a rare disease with approximately 1100 reported cases globally. The historical context of its discovery and the genetic, epidemiological, and pathophysiological aspects are discussed. PAM falls under interstitial lung diseases and is associated with pulmonary hypertension (PH), primarily categorized as Group 3 PH. The clinical manifestations, diagnostic approaches, and challenging aspects of treatment are explored. A clinical case of PAM with severe pulmonary hypertension is presented, emphasizing the importance of comprehensive evaluation and the potential benefits of phosphodiesterase-5 inhibitors (PDE5i) therapy. Despite limited therapeutic options and challenging diagnosis, this review sheds light on recent developments and emerging treatments for PAM and associated pulmonary hypertension.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Calcinosis
/
Enfermedades Genéticas Congénitas
/
Hipertensión Pulmonar
/
Enfermedades Pulmonares
Límite:
Humans
Idioma:
En
Revista:
Curr Probl Cardiol
Año:
2024
Tipo del documento:
Article
Pais de publicación:
Países Bajos