Systematic screening in hereditary hemorrhagic telangiectasia

Kroon, Steven; Snijder, Repke J.; Faughnan, Marie E.; Mager, Hans‐Jurgen

doi:10.1097/mcp.0000000000000472

Cited by 25 publications

(26 citation statements)

References 88 publications

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“…Although much rarer than PAVMs, cerebral vascular malformations (CVMs) can also result in severe morbidity and mortality. The prevalence of PAVMs and CVMs depends on the HHT type: PAVMs occur in up to 60% of patients with HHT type 1 and 5-10% of patients with HHT type 2, and CVMs occur in 8-16% in HHT type 1 and in 0.5-1.5% in HHT type 2 [5]. A PAVM is a direct connection between the pulmonary artery and pulmonary vein with the absence of a normal capillary bed.…”

Section: Introductionmentioning

confidence: 99%

Hereditary Hemorrhagic Telangiectasia (HHT) and Survival: The Importance of Systematic Screening and Treatment in HHT Centers of Excellence

Gussem

Kroon

Hosman

et al. 2020

JCM

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Hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant disease, is characterized by telangiectases and arteriovenous malformations (AVMs). Untreated AVMs, especially in the lungs—pulmonary AVMs (PAVMs)—can result in morbidity with a decreased life expectancy. We have investigated whether HHT patients, systematically screened for HHT-related organ involvement and treated if needed, have a similar survival as persons without HHT. We included all individuals screened for HHT between 2004 and 2016 with a genetically or clinically confirmed diagnosis (HHT group) or excluded diagnosis (non-HHT control group). The social security number was used to confirm status as dead or alive in December 2019. We included 717 HHT patients and 471 controls. There was no difference in survival between the HHT and the non-HHT control group. The HHT group had a life expectancy of 75.9 years (95% confidence interval (CI) 73.3–78.6), comparable to the control group (79.3 years, 95% CI 74.8–84.0, Mantel–Cox test: p = 0.29). In conclusion, the life expectancy of HHT patients systematically screened for HHT-related organ involvement and treated if needed in an HHT center of excellence was similar compared to their controls, justifying systematic screening and treatment in HHT patients.

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Section: Introductionmentioning

confidence: 99%

Hereditary Hemorrhagic Telangiectasia (HHT) and Survival: The Importance of Systematic Screening and Treatment in HHT Centers of Excellence

Gussem

Kroon

Hosman

et al. 2020

JCM

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“…Despite these phenotype patterns, there is significant intra-familial as well as inter-familial clinical variability among HHT patients [18]. Screening for possible VMs is recommended for early detection and appropiate treatment [10,19,20].…”

Section: Introductionmentioning

confidence: 99%

Gender differences in hereditary hemorrhagic telangiectasia severity

Mora-Luján

Iriarte

Alba

et al. 2020

Orphanet J Rare Dis

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Background: Gender differences in organ involvement and clinical severity have been poorly described in hereditary hemorrhagic telangiectasia (HHT). The aim of this study was to describe differences in the severity of HHT manifestations according to gender. Methods: Severity was measured according to Epistaxis Severity Score (ESS), Simple Clinical Scoring Index for hepatic involvement, a general HHT-score, needing for invasive treatment (pulmonary or brain arteriovenous malformations-AVMs-embolization, liver transplantation or Young's surgery) or the presence of adverse outcomes (severe anemia, emergency department-ED-or hospital admissions and mortality). Results: One hundred forty-two (58.7%) women and 100 (41.3%) men were included with a mean age of 48.9 ± 16.6 and 49 ± 16.5 years, respectively. Women presented hepatic manifestations (7.1% vs 0%) and hepatic involvement (59.8% vs 47%), hepatic AVMs (28.2% vs 13%) and bile duct dilatation (4.9% vs 0%) at abdominal CT, and pulmonary AVMs at thoracic CT (35.2% vs 23%) more often than men. The Simple Clinical Scoring Index was higher in women (3.38 ± 1.2 vs 2.03 ± 1.2), and more men were considered at low risk of harboring clinically significant liver disease than women (61% vs 25.3%). These differences were mantained when considering HHT1 and HHT2 patients separetely. Duodenal telangiectasia were more frequent in men than women (21% vs 9.8%). Invasive treatments were more frequently needed in women (28.2% vs 16%) but men needed attention at the ED more often than women (48% vs 28.2%), with no differences in ESS, HHT-score, anemia hospital admissions or mortality. Conclusions: HHT women showed more severe hepatic involvement than men, also among HHT1 and HHT2 patients. Women had higher prevalence of pulmonary AVMs and needed invasive procedures more frequently, while men needed attention at the ED more often. These data might help physicians to individualize HHT patients follow-up.

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“…The life expectancy of unscreened and untreated HHT patients is lower than that of people without HHT with an earlier median age of death ranging from 3 to 7 years [13,24]. HHT guidelines recommend screening children with suspected or diagnosed HHT for pulmonary AVMs and cerebral AVMs.…”

Section: Discussionmentioning

confidence: 99%

“…The neurologic complications of HHT attributed to these AVMs include embolic stroke, cerebral abscess formation, migraine, hemorrhagic stroke, and seizures [13]. Screening for cerebral AVMs in children is recommended by HHT guidelines, and it is performed in North American HHT centers; however, in some other countries, screening for cerebral AVMs is postponed until adulthood [24,25]. Unenhanced magnetic resonance imaging is recommended to detect cerebral AVMs as early as possible or at the time of diagnosis, preferably in the first 6 months of life [26].…”

Section: Discussionmentioning

confidence: 99%

Current Status of Clinical Diagnosis and Genetic Analysis of Hereditary Hemorrhagic Telangiectasia in South Korea: Multicenter Case Series and a Systematic Review

et al. 2019

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Purpose: Hereditary hemorrhagic telangiectasia (HHT), a rare genetic vascular disorder, has been rarely reported in South Korea. We investigated the current prevalence and presenting patterns of genetically confirmed HHT in South Korea. Materials and Methods: We defined HHT patients as those with proven mutations on known HHT-related genes (ENG, ACVRL1, SMAD4, and GDF2) or those fulfilling 3 or 4 of the Curaçao criteria. A computerized systematic search was performed in PubMed and KoreaMed using the following search term: ("hereditary hemorrhagic telangiectasia" AND "Korea") OR ("Osler-Weber-Rendu" AND "Korea"). We also collected government health insurance data. HHT genetic testing results were collected from three tertiary hospitals in which the genetic tests were performed. We integrated patient data by analyzing each case to obtain the prevalence and presenting pattern of HHT in South Korea. Results: We extracted 90 cases from 52 relevant articles from PubMed and KoreaMed. An additional 22 cases were identified from the three Korean tertiary hospitals after excluding seven cases that overlapped with those in the published articles. Finally, 112 HHT patients were identified (41 males and 71 females, aged 4-82 years [mean±standard deviation, 45.3±20.6 years]). The prevalence of HHT in South Korea is about 1 in 500,000, with an almost equal prevalence among men and women. Forty-nine patients underwent genetic testing, of whom 28 had HHT1 (ENG mutation) and 19 had HHT2 (ACVRL1 mutation); the other two patients were negative for ENG, ACVRL1, and SMAD4 mutations. Conclusion: The prevalence of HHT is underestimated in Korea. The rate of phenotypic presentation seems to be similar to that found worldwide. Korean health insurance coverage is limited to representative genetic analysis to detect ENG and ACVRL1 mutations. Further genetic analyses to detect HHT3, HHT4, and other forms of HHT should be implemented.

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Systematic screening in hereditary hemorrhagic telangiectasia

Abstract: Screening of HHT patients and their first-degree relatives is recommended to prevent severe complications including stroke, brain abscess and intracranial hemorrhage.

Cited by 25 publications

References 88 publications

Hereditary Hemorrhagic Telangiectasia (HHT) and Survival: The Importance of Systematic Screening and Treatment in HHT Centers of Excellence

Hereditary Hemorrhagic Telangiectasia (HHT) and Survival: The Importance of Systematic Screening and Treatment in HHT Centers of Excellence

Gender differences in hereditary hemorrhagic telangiectasia severity

Current Status of Clinical Diagnosis and Genetic Analysis of Hereditary Hemorrhagic Telangiectasia in South Korea: Multicenter Case Series and a Systematic Review

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