Hyperhomocysteinemia and thrombotic vascular disease

Wuillemin,; Solenthaler,

doi:10.1024/0301-1526.28.3.151

Cited by 14 publications

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“…In adults, it is reported that isolated hyperhomocysteinemia may damage blood vessels, causing pulmonary arterial hypertension (PAH) and/or pulmonary thromboembolism [1, 2]. Both microangiopathy and thromboembolism can be the underlying mechanisms for pulmonary hypertension in CblC deficiency [3–8], but an association between MMA and/or homocysteinemia and diffuse lung disease (DLD) has not been broadly reported.…”

Section: Letter To the Editormentioning

confidence: 99%

Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients

Liu

Peng

Zhou

et al. 2017

Orphanet J Rare Dis

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Combined methylmalonic acidemia (MMA) and homocysteinemia are a group of autosomal recessive disorders caused by inborn errors of cobalamin metabolism, including CblC, D, F, and J, with cblC being the most common subtype. The clinical manifestations of combined MMA and homocysteinemia vary, but typically include neurologic, developmental and hematologic abnormalities.We report 4 children with combined MMA and homocysteinemia who presented predominantly with late-onset diffuse lung diseases (DLD). Of these, 3 accompanied by pulmonary arterial hypertension (PAH), 1 accompanied by hypertension, and 2 accompanied by renal thrombotic microangiopathy (TMA), which was confirmed by renal biopsy. This confirms combined MMA and homocysteinemia should be considered in the differential diagnosis of DLD with or without PAH or renal TMA.

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Section: Letter To the Editormentioning

confidence: 99%

Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients

Liu

Peng

Zhou

et al. 2017

Orphanet J Rare Dis

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Hyperhomocysteinemia and the MTHFR C677T mutation in Budd‐Chiari syndrome

Yue

Huang

et al. 2002

American J Hematol

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Cobalamin C deficiency presenting with diffuse alveolar hemorrhage and pulmonary microangiopathy

Liu

Tang

Zhou

et al. 2020

Pediatric Pulmonology

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ObjectiveCombined methylmalonic acidemia and homocysteinemia is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism, which consists of five subtypes including cblC, cblD, cblF, cblJ, and cblX deficiencies. The purpose of this study is to summarize new clinical features mainly diffuse alveolar hemorrhage (DAH) in cblC deficiency.MethodsWe made a retrospective analysis of four pediatric patients diagnosed with DAH and pulmonary microangiopathy due to cblC deficiency between January 2017 and December 2018 in Beijing Children's Hospital.ResultsThis study describes four patients with their ages ranging from 4 years 2 months to 7 years 6 months with cblC deficiency who developed late‐onset diffuse lung disease (DLD). Of these, the first three patients presented predominantly with DAH, and the last patient with pulmonary microangiopathy confirmed by thoracoscopic lung biopsy. All patients were accompanied by pulmonary arterial hypertension (PAH), two accompanied by respiratory failure, and two accompanied by moderate megaloblastic anemia. Diffuse ground‐glass opacification and poorly defined ground‐glass centrilobular nodules were seen on high‐resolution computed tomography in one patient and three patients, respectively. All patients were suspected of having idiopathic pulmonary hemosiderosis or interstitial lung disease at other hospitals. All of them received treatment with corticosteroid before admission, but the symptoms did not improve. Moreover, all patients carried compound heterozygous mutations (c.80A>G, c.609G>A) in MMACHC and improved significantly after being treated for cblC deficiency and PAH.ConclusionsCblC deficiency should be considered in the differential diagnosis of DAH especially with PAH, and pulmonary microangiopathy be the main reason of DLD in these patients.

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Hyperhomocysteinemia and thrombotic vascular disease

Cited by 14 publications

References 0 publications

Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients

Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients

Hyperhomocysteinemia and the MTHFR C677T mutation in Budd‐Chiari syndrome

Cobalamin C deficiency presenting with diffuse alveolar hemorrhage and pulmonary microangiopathy

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