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Rhinology and Facial Plastics
Published in Adnan Darr, Karan Jolly, Jameel Muzaffar, ENT Vivas, 2023
Adnan Darr, Karan Jolly, Shahzada Ahmed, Claire Hopkins
Background: Autosomal dominant, usually presenting in late teensDefect in TGF-β signaling pathway, resulting in deficient contractile tissue in vascular walls (tunica media) and angiogenesis ENG (80% of cases) or ACVRL1 mutationTelangiectasia and AVMs (large vessel malformations occur in large organs including brain, lungs and liver)MADH4 mutation may result in colonic polyps in some patients, later transforming into colorectal cancerHigher risk of DVT
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
Developmental Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James H. Tonsgard, Nikolas Mata-Machado
Blood tests: Full blood count.Genetic testing. If the phenotype is classic, target genetic testing for mutations in ENG and ACVRL1 is appropriate, followed by testing SMAD4 if negative.
Update on pulmonary arterial hypertension research: proceedings from a meeting of experts
Published in Current Medical Research and Opinion, 2018
Vallerie McLaughlin, Matthew Bacchetta, David Badesch, Raymond Benza, Charles Burger, Kelly Chin, Robert Frantz, Adaani Frost, Anna Hemnes, Nick H. Kim, Erika B. Rosenzweig, Lewis Rubin
Registry data can shed light on adverse drug reactions, transplant urgency, and PAH biomarkers, as well as generate hypotheses and help explore causality. Evaluating the French PH registry clarified the risk of PAH due to treatment with dasatinib for chronic myelogenous leukemia52. Based on the inclusion of thresholds for mean right atrial pressure and the 6MWD test for risk stratification from REVEAL, calculations for transplant waitlist urgency could be refined53. Additionally, the association between premature birth and PAH in children and young adults, as evaluated in the Swedish national birth registry (odds ratio of 8.46 [95% CI = 2.97–24.10]), may have relevance to the US, given the higher premature birth rate in the US (9.6%) vs Sweden (5.6%)54. Data from the Giessen (German) PH Registry confirmed that circulating angiopoietin-1 is not a relevant biomarker for PAH severity or outcomes55, while mutation of ACVRL1 (activin A receptor like type 1) was confirmed to be causative for severe PAH from French PAH Network data56.
Intractable bleeding from the renal pelvis in a patient with hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease)
Published in Scandinavian Journal of Urology, 2020
L. F. Qvigstad, O. J. Grøtta, C. Hammarström, E. Baco
The patient was a 68-year-old female with a confirmed genetic diagnosis of HHT (mutation in the ACVRL1 gene) with a strong family history of the disease. She had typical manifestations of telangiectasias in the skin, nasal septum (with recurrent epistaxis) and the gastrointestinal tract. There were known arteriovenous malformations in the liver and in the left renal pelvis. In addition, she had chronic anaemia and pulmonary hypertension, disorders often associated with HHT. The patient also had metastatic breast cancer treated with hormone therapy and her nutritional status was poor. Long term anticoagulant therapy was given due to a deep venous thrombosis of the upper extremity.
Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler’s Disease, Uppsala University Hospital
Published in Upsala Journal of Medical Sciences, 2018
Torbjörn Karlsson, Honar Cherif
In summary, in the first study on the genotype–phenotype correlation in HHT from a Swedish HHT centre we report results indicating that epistaxis debuts earlier and may be more severe in HHT1 than in HHT2. The prevalence of PAVM is higher in HHT1 than in HHT2, whereas HAVM prevalence is higher in HHT2. An HHT patient with mutations in both ENG and ACVRL1 is also described. In addition, we report a high prevalence of cerebral complications in our HHT patient cohort. Nearly one in five of the patients has been diagnosed with ischaemic stroke or cerebral abscess.