KEGG   DISEASE: Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis
H01866                      Disease                                
Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis
Pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH) are rare diseases that are classified as a subgroup of pulmonary arterial hypertension (PAH). PVOD is histologically characterized by intimal fibrosis that narrows and occludes pulmonary veins and it accounts for 5-10% of cases initially thought to be idiopathic PAH (IPAH). PCH is histologically characterized by localized capillary proliferation within the lung in which capillaries invade the pulmonary interstitium, vessels and, less commonly, airways. PCH has been reported to be much less frequent than PVOD. In recent years, PAH-targeted drugs including epoprostenol have improved the survival of patients with IPAH. PVOD/PCH has a very similar clinical presentation to PAH but is characterised by a worse prognosis and the possibility that severe pulmonary oedema can develop with specific PAH therapy. PVOD associated with a BMPR2 mutation has been reported. Recently, it has been suggested that EIF2AK4 mutations are the major cause of heritable PVOD.
Cardiovascular disease
Human diseases [BR:br08402]
 Cardiovascular diseases
  Vascular diseases
   H01866  Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Pulmonary heart disease or diseases of pulmonary circulation
   BB01  Pulmonary hypertension
    H01866  Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis
(PVOD1) BMPR2 [HSA:659] [KO:K04671]
(PVOD2) EIF2AK4 [HSA:440275] [KO:K16196]
See also H01621 Pulmonary arterial hypertension.
Other DBs
ICD-11: BB01.0
ICD-10: I27.0
MeSH: D011668 C535861
OMIM: 265450 234810
Miura A, Akagi S, Nakamura K, Ohta-Ogo K, Hashimoto K, Nagase S, Kohno K, Kusano K, Ogawa A, Matsubara H, Toyooka S, Oto T, Ohtsuka A, Ohe T, Ito H
Different sizes of centrilobular ground-glass opacities in chest high-resolution computed tomography of patients with pulmonary veno-occlusive disease and patients with pulmonary capillary hemangiomatosis.
Cardiovasc Pathol 22:287-93 (2013)
Montani D, Price LC, Dorfmuller P, Achouh L, Jais X, Yaici A, Sitbon O, Musset D, Simonneau G, Humbert M
Pulmonary veno-occlusive disease.
Eur Respir J 33:189-200 (2009)
PMID:12446270 (BMPR2)
Runo JR, Vnencak-Jones CL, Prince M, Loyd JE, Wheeler L, Robbins IM, Lane KB, Newman JH, Johnson J, Nichols WC, Phillips JA 3rd
Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II.
Am J Respir Crit Care Med 167:889-94 (2003)
PMID:24292273 (EIF2AK4)
Eyries M, Montani D, Girerd B, Perret C, Leroy A, Lonjou C, Chelghoum N, Coulet F, Bonnet D, Dorfmuller P, Fadel E, Sitbon O, Simonneau G, Tregouet DA, Humbert M, Soubrier F
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.
Nat Genet 46:65-9 (2014)

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