Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis, Susceptibility To

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

PAH, BMPR2, CPB2, HLA-B, EDN1, FOXO1, SLC6A4, TGFBR1, TGFB1, TERC, TBX1, SPP1, AGT, CCL2, REN, PTGIS, PTGIR, PPIA, PECAM1, PDGFRB, THBD, PDE5A, TNF, NPPB, MIR759, MIR942, MIR940, MIRLET7B, COPD, EXD2

PAH, BMPR2, CPB2, HLA-B, EDN1, FOXO1, SLC6A4, TGFBR1, TGFB1, TERC, TBX1, SPP1, AGT, CCL2, REN, PTGIS, PTGIR, PPIA, PECAM1, PDGFRB, THBD, PDE5A, TNF, NPPB, MIR759, MIR942, MIR940, MIRLET7B, COPD, EXD2, PHAX, NOX4, NOX1, ADAMTS13, PDPN, CTPP, ROCK2, ADIPOQ, PROM1, PAFAH1B1, NCAM1, NOS3, CRP, F5, F3, F2R, EPHA2, DGCR, ACE, CDH5, FCGR3A, CD40LG, CD34, CD6, CASP3, DST, BCL2, F8, FCGR3B, NFKBIL1, KDR, ALB, MUC6, MPO, MMP2, MGP, MAA, CXCL10, MTOR, ICAM1, HTR2A, HP, HLA-DPB1, HIF1A, HGF, MIR3148

Drugs

Ambrisentan ( AMBRISENTAN MYLAN, LETAIRIS, VOLIBRIS ), Beraprost sodium ( DORNER ), Bosentan ( STAYVEER, TRACLEER )

Ambrisentan ( AMBRISENTAN MYLAN, LETAIRIS, VOLIBRIS ), Beraprost sodium ( DORNER ), Bosentan ( STAYVEER, TRACLEER ), Elafin, Iloprost ( VENTAVIS ), Lisuride hydrogen maleate, Methyl 4,6-diamino-2-[1-(2-fluorobenzyl)-1H-pyrazolo[3,4-b]pyridine-3-yl]-5-pyrimidinyl(methyl)carbamate, Riociguat ( ADEMPAS ), Selexipag ( UPTRAVI ), Sildenafil citrate ( MYSILDECARD, REVATIO ), Sitaxentan sodium ( THELIN ), Terguride, Treprostinil diethanolamine (oral use) ( ORENITRAM ), Treprostinil sodium ( Trepulmix ), Treprostinil sodium (inhalation use) ( TYVASO, REMODULIN )

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Clinical Features

Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare disease characterized by persistent pulmonary embolism resulting in pulmonary hypertension and consequent right heart failure. The estimated annual incidence of CTEPH is 500 to 2,500 patients in the U.S. and the estimated prevalence in Japan is about 450 patients. Although deep vein thrombosis (DVT) may be a predisposing factor, many patients do not have concurrent DVT, suggesting that there are different clinical categories, namely DVT-positive CTEPH and DVT-negative CTEPH (Kominami et al., 2009).

Mapping

Among 160 Japanese patients with CTEPH, 99 without DVT and 61 with DVT, and 380 controls, Kominami et al. (2009) identified multiple associations between DVT-negative CTEPH and markers on chromosome 6p21.3. The associations were for marker DPB1*0202 of the HLA-DPB1 gene (142858) (OR, 5.07; corrected p value = 0.00014), IKBLp*03 of the NFKBIL1 gene (601022) (OR, 2.33; corrected p value = 0.033), and HLA-B*5201 of the HLA-B gene (142830) (OR, 2.47; corrected p value = 0.016). There were no significant associations between these markers and DVT-positive disease. A comparison of clinical characteristics stratified by susceptibility genes suggested that the HLA-DPB1 gene controlled the severity of the vascular lesion, whereas the NFKBIL1 gene was associated with a relatively mild phenotype. The findings suggested a role for inflammation in the development of the disease.