Improved Survival Outcomes in Cancer Patients with Hereditary Hemorrhagic Telangiectasia

Duarte, Christine W.; Murray, Kimberly; Lucas, F. Lee; Fairfield, Kathleen M.; Miller, Heather; Brooks, Peter C.; Vary, Calvin P.H.

doi:10.1158/1055-9965.epi-13-0665

Cited by 25 publications

(26 citation statements)

References 44 publications

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“…Patients with HHT often tolerate anticoagulation or antiplatelet therapy well 49. Recently described reduced rates of specific cancers,34 50 51 better survival outcomes for cancer patients who have HHT52 and low myocardial infarction rates20 await explanation. The HHT phenotype is subtly different between HHT genotypes, for instance patients with HHT2 are less likely to have PAVMs and more likely to have hepatic AVMs than patients with HHT1 or SMAD4 -related HHT 37 39.…”

Section: Introductionmentioning

confidence: 99%

British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations

Shovlin

Condliffe

Donaldson³

et al. 2017

Thorax

114

165

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Pulmonary arteriovenous malformations (PAVMs) are structurally abnormal vascular communications that provide a continuous right-to-left shunt between pulmonary arteries and veins. Their importance stems from the risks they pose (>1 in 4 patients will have a paradoxical embolic stroke, abscess or myocardial infarction while life-threatening haemorrhage affects 1 in 100 women in pregnancy), opportunities for risk prevention, surprisingly high prevalence and under-appreciation, thus representing a challenging condition for practising healthcare professionals. The driver for the current Clinical Statement was the plethora of new data since previous hereditary haemorrhagic telangiectasia (HHT) guidelines generated in 2006 and a systematic Cochrane Review for PAVM embolisation in 2011. The British Thoracic Society (BTS) identified key areas in which there is now evidence to drive a change in practice. Due to the paucity of data in children, this Statement focused on adults over 16 years. The Statement spans the management of PAVMs already known to be present (interventional and medical), screening and diagnosis (for PAVMs and HHT) and follow-up of patients following a first diagnosis, intervention or negative screen for PAVMs. The Good Practice Points (in bold) were generated for a target audience of general respiratory, medical and specialist clinicians and were approved by the BTS Standards of Care Committee, before formal peer review and public consultation. The Statement spans embolisation treatment, accessory medical management and issues related to the likelihood of underlying HHT.

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Section: Introductionmentioning

confidence: 99%

British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations

Shovlin

Condliffe

Donaldson³

et al. 2017

Thorax

114

165

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“…Therefore, it is an interesting question of whether HHT manifests cancer-prone phenotypes or not. A clinical observational study demonstrated that reduced endoglin expression in HHT is associated with a lower frequency of common malignancies, including lung, prostate and colorectal cancer, and a more favorable cancer-specific survival (10). Based on these findings, the current patient's case is rare.…”

Section: Discussionmentioning

confidence: 99%

“…Genetic analyses have revealed that abnormalities in endoglin family genes cause HHT (10). In an in vivo experiment, the overexpression of endoglins in prostate cancer cells revealed growth-inhibiting effects on tumor cells (11)(12)(13)(14).…”

Section: Discussionmentioning

confidence: 99%

Small bowel adenocarcinoma arising in a patient with hereditary hemorrhagic telangiectasia: A case report

et al. 2016

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Abstract. Patients with hereditary hemorrhagic telangiectasia (HHT) are reportedly at a lower overall risk of malignancies, and small bowel adenocarcinoma (SBA) arising in a HHT patient is extremely rare. In this study, the case of a 37-year-old female with HHT who developed a poorly differentiated jejunal adenocarcinoma five years after ileocecal resection for multiple colonic adenomas is presented. The patient underwent curative resection of the cancer invading the ileum and the mesentery of the transverse colon, but had to overcome critical complications perioperatively, stemming from HHT-associated peripheral capillary dilatation and arteriovenous malformation, including nosebleeds and possible infusion-induced air embolism through pulmonary shunts. The patient subsequently received adjuvant chemotherapy including capecitabine and oxaliplatin for 6 months, and currently remains alive without any evidence of recurrence 12 months after the second surgery. This patient with SBA was an instructive case demonstrating the necessity of careful attention during major surgery in HHT. IntroductionHereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is an autosomal dominant disorder characterized by cutaneous and/or mucosal telangiectasias and arteriovenous malformations (AVMs), with a prevalence rate of 1-2 patients per 10,000 individuals worldwide (1). HHT is clinically diagnosed using the Curaçao criteria, which was established in 1999 (2). Approximately 80% of HHT patients exhibit a mutation in endoglin or activin A receptor-like kinase 1 genes. Repeated nosebleeds due to the mucosal telangiectasias are the most common somatic symptom and present a major HHT-related health concern that affects patient quality of life (3). At present, an optimal treatment strategy for HHT has not yet been established. However, in patients that exhibit severe bleeding, infection and hypoxia, surgery is usually required (3,4). The prognosis of HHT patients depends on the presence of the infection associated with AVMs, including organ abscesses and sepsis (1). Notably, the mean lifespan of HHT patients has been found to be shortened when compared with controls (63.2 vs. 70.0 years) (4). To date, only a few cases of tumors arising in the small bowel have been reported (5,6). In this study, the first case of a patient with HHT to develop cancer of the jejunum following surgical removal of multiple colonic adenomas is presented. Case reportA 32-year-old female underwent a laparoscopy-assisted ileocecal resection for multiple polyps in the cecum and appendix veriforme at the University of Tokyo Hospital, (Tokyo, Japan), as reported in a previous study (7). The patient was subsequently diagnosed with HHT. Five years later, she visited a local practitioner complaining of appetite loss which had lasted for two months, recent abdominal pain, and intermittent vomiting. Shortly thereafter, the patient was referred back to the University of Tokyo Hospital to receive treatment for obstructive ileus, which was manag...

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“…Following demonstration of better survival outcomes for HHT cancer patients (Duarte 2014), the authors examined cancer incidence, pooling lung, breast, prostate and colorectal cancer. Using a general population registry, 316,581 matched cancer patients and non-cancer controls were identified, including 219 and 212 HHT cases respectively.…”

Section: To the Editormentioning

confidence: 99%

Cancer and hereditary haemorrhagic telangiectasia

Hosman

Shovlin

2016

J Cancer Res Clin Oncol

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Objective To examine associations between cancer incidence and hereditary haemorrhagic telangiectasia (HHT). Methods Two studies with contrasting conclusions were compared. The first had used a registry-based, matched-pairs approach, while the second utilised HHT family-based, survey methodology. Results The first manuscript captured data on cancer incidence in a total of 316,581 matched cancer patients–non-cancer controls, which included 431 HHT cases. No association was found between HHT and pooled cases of lung, breast, prostate, and colorectal cancer (adjusted OR 0.978, 95% CI [0.795, 1.204]). The second, which was powered to examine these four cancers individually, captured data from 2161 HHT cases and 2817 related controls. Fewer HHT-affected individuals had cancer (398/2161, [18.4%]) compared to 668/2817 (23.7%) related controls (p = 0.0012). Of the four most common cancers, prostate and colorectal cancer rates were equivalent, but lung cancers were significantly less frequent in HHT (adjusted OR 0.48 [0.30, 0.70], p = 0.0012), and breast cancer was more frequent (adjusted OR 1.52 [1.07, 2.14] p = 0.018). Conclusions The respective studies had different methodological strengths and weaknesses. Potential reasons for the discrepant conclusions include study power, particularly important to dissect specific cancers where differential contributions from HHT genotypes and environmental confounders might be predicted

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Improved Survival Outcomes in Cancer Patients with Hereditary Hemorrhagic Telangiectasia

Cited by 25 publications

References 44 publications

British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations

British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations

Small bowel adenocarcinoma arising in a patient with hereditary hemorrhagic telangiectasia: A case report

Cancer and hereditary haemorrhagic telangiectasia

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