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The Patient with Non-Group 2 Pulmonary Hypertension
Published in Andreas P. Kalogeropoulos, Hal A. Skopicki, Javed Butler, Heart Failure, 2023
Sophia Anastasia Mouratoglou, George Giannakoulas
Patients with sporadic or familial PAH should be advised on genetic testing and counseling because of the strong possibility that they may carry a disease-causing mutation and a BMPR2 mutation screening should be offered. When no BMPR2 mutations are identified, screening for other, rarer mutations may be considered (ACVRL1 and mutations in ENG, KCNK3, CAV1 genes, etc.). Patients with sporadic or familial pulmonary veno-occlusive disease/ pulmonary capillary hemangiomatosis (PVOD/PCH) should be tested for EIF2AK4 mutations as the presence of a bi-allelic EIF2AK4 mutation is sufficient to confirm PVOD/PCH without lung biopsy.1,2
Diagnostic and prognostic markers and treatment of connective tissue disease-associated pulmonary arterial hypertension: current recommendations and recent advances
Published in Expert Review of Clinical Immunology, 2020
Masaru Kato, Ayako Sugimoto, Tatsuya Atsumi
Pulmonary veno-occlusive disease (PVOD)/pulmonary capillary hemangiomatosis (PCH) is another distinctive involvement of SSc-PAH, which also has a great impact on the mortality of these patients [76]. Although PVOD/PCH was characterized as a distinct subgroup in the previous classification of PH (group 1ʹ PH), the term ‘PAH with overt features of venous/capillaries (PVOD/PCH) involvement’ has been proposed in the new classification of PH [1], based on the recent findings that PAH and PVOD/PCH belong to a spectrum of pulmonary vascular disease rather than representing two morphologically distinct and clear-cut entities. Muscular remodeling of septal veins was observed in PAH lungs carrying BMPR2 gene mutations [77]. Conversely, pulmonary arterial remodeling is present to a significant extent in PVOD linked to EIF2AK4 gene mutations [78]. Abnormalities in the pulmonary veins, such as arterialization and intimal fibrosis, are much more highly present in SSc-PAH than in IPAH [15–17]. In the clinical practice, the presence/copresence of PVOD/PCH is suspected by a severely decreased DLCO (frequently around 35%) [79] and radiologically with chest CT triad, including mediastinal lymph node enlargement, centrilobular ground-glass opacities/nodules and septal lines [80,81,82]. The presence of two or more of the triad is associated with worse survival [76]. In patients with SSc-PAH, particularly given the decline of DLCO as discussed above, the latter, radiological evaluation may be more practical. Since PVOD/PCH copresence in IPAH and CTD-PAH is associated with a limited response and a risk of pulmonary edema on PAH specific therapies [83], the treatment strategy for these conditions, along with that for SSc-PAH coexisting ILD, will be discussed in the next section.
Rapidly progressive fatal hypoxia in a young woman
Published in Baylor University Medical Center Proceedings, 2021
Aaron J. Sohn, Joseph M. Guileyardo, Alastair J. Moore, Kenneth A. Ausloos, Chetan A. Naik
On autopsy, the heart weighed 385 g, and there was marked right ventricular hypertrophy and dilatation (Figure 2a). The pleural surfaces and lung parenchyma were intensely congested. Histologically, the lungs were congested and the alveolar septal capillaries were dilated and filled with edema and occasional hemosiderin-laden macrophages (Figure 2b). Many medium- to small-sized veins exhibited obstructive intimal fibrosis ranging from loose and edematous to hypocellular, dense, and collagenous (Figure 2c). Mutation analysis for the EIF2AK4 gene was negative.
Case report: pulmonary veno-occlusive disease: a rare but fatal cause of pulmonary hypertension in a patient following allogeneic stem cell transplantation
Published in Acta Clinica Belgica, 2022
Morias Katrien, Stevens Dieter, Delie Anke, Dendooven Amelie, Michel De Pauw, Derom Eric
The exact cause and pathogenesis remains unclear [1–4], but on a cellular level there is vascular injury with endothelial damage [5]. Given the number of reported risk factors for the development of PVOD, listed in Table 1, the aetiology is most likely multifactorial [1,2,4,6]. Nevertheless, in 2014 there was an important breakthrough with the finding of bi-allelic mutations in the EIF2AK4-gene, responsible for hereditary PVOD with an autosomal recessive transmission pattern [1,2,4,8]. Presumably up to 10 % [1] – 25 % [8] of even the sporadic phenotype might be driven by this mutation as well. This recent discovery could be important to untangle and elucidate the molecular and cellular pathogenesis of PVOD to a deeper level. Our patient had multiple-risk factors as well, including a haematological malignancy for which she received toxic chemotherapy with alkylating agents and total body irradiation followed by an allogeneic stem cell transplantation. In addition, she had posttransplantation complications such as cutaneous GvHD and neutropenic sepsis, which are, together with opportunistic infections, most likely to provide an additional inflammatory substrate for endothelial damage and the development of PVOD [5]. In fact, PVOD is nowadays seen as a rare complication of autologous stem cell transplantation and myeloablative allogeneic stem cell transplantation. This may suggest that PVOD is a regimen-related toxicity [9], although it is hard to identify the major culprit because patients receive multiple-drug treatments [1]. In our patient there was a classic temporal association between her stem cell transplantation and the development of PVOD, as this is typically seen several weeks to months following stem cell transplantation, but in a minority of cases it can even occur within days [5,9]. Given the suggestive findings in this case and the absence of a familial history of PVOD, genetic testing for EIF2AK4-mutation was not performed, although Montani et al. strongly advises to perform genetic testing on every suspected or proven PVOD, with or without family history of the disease [1].