History

Fact Explanation
Positive family history Hereditary hemorrhagic telangiectasia (HHT) or Rendu–Osler–Weber disease, is an autosomal dominant disorder, which affects the blood vessels causing abnormal connections between arterioles and veins. This results in increased risk of bleeding. There are two types of disease presentation named HHT1 and HHT2. Curaçao criteria are used to establish the diagnosis. Presence of family history, recurrent epistaxis, telangiectasias, and visceral arteriovenous malformations are the diagnostic criteria. If any three out of above four are present the definitive diagnosis can be made. If two criteria are present diagnosis is considered as possible. [1,3]
Asymptomatic Some patients with involvement of the central nervous system and visceral organs can be asymptomatic. [2]
Mucocutaneous telangiectasia Subcutaneous bleeding and mucosal bleeding is one of the characteristic presentation of the HHT. [1,2]
Epistaxis This is one of the symptoms in the classic triad of presentation of HHT. Spontaneous and recurrent episodes of epistaxis is a common presentation. [1,2]
Positive family history This is an autosomal dominant disorder. Every off springs of the affected person is having the disease. [2]
Symptoms of pulmonary arterio-venous malformations (AVM) Patients with pulmonary AVMs may present with dyspnea and reduced exercise tolerance. Large AVMs result in significant right to left shunt and may lead to cyanosis. [2]
Gastrointestinal bleeding Hematemesis and malena are due to gastrointestinal bleeding from the AVMs. Hepatic involvement may result in bleeding from esophageal varices. [2]
Symptoms of anemia Some patients may present with symptoms of anemia due to occult gastrointestinal bleeding. Patients complain of fatigue, palpitations, dyspnea on exertion and increased sleepiness. [1]
Migraine Patients can present with migraine and it is commonly seen in patients with pulmonary AVMs. [4,5]
Stroke or transient ischemic attacks Pulmonary AVMs can cause emboli in the cerebral circulation resulting in ischemic stroke or transient ischemic attacks. [2,4]
Symptoms of cerebral abscess Pulmonary AVMs can cause septic emboli in the cerebral circulation and development of cerebral abscesses. Some patients may present with recurrent episodes of cerebral abscess. Patients complain of prolonged fever, headache and focal neurological signs. [6,7]
Acute paraplegia Acute paraplegia occurs due to spinal AVMs which is rare presentation but common in children. [2]
Abdominal pain Abdominal pain is seen in patients with visceral AVMs due to emboli in the mesenteric arteries. [8]
Symptoms of hepatic involvement Right upper quadrant pain and jaundice can be presenting complains of hepatic involvement. Hepatic AVMs are commoner in HHT2 patients than in patients with HHT1. [2,8]
Visual disturbances Ocular hemorrhages, migrainous aura and transient cerebral ischemia (due to embolization) can result in visual disturbances. [9,10]
Hematuria AVMs in the bladder can cause hematuria. [9]
References
  1. BEGBIE M, WALLACE G, SHOVLIN C. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century Postgrad Med J [online] 2003 Jan, 79(927):18-24 [viewed 01 July 2014] Available from: doi:10.1136/pmj.79.927.18
  2. KOMIYAMA MASAKI, ISHIGURO TOMOYA, YAMADA OSAMU, MORISAKI HIROKO, MORISAKI TAKAYUKI. Hereditary hemorrhagic telangiectasia in Japanese patients. J Hum Genet [online] December, 59(1):37-41 [viewed 02 July 2014] Available from: doi:10.1038/jhg.2013.113
  3. LIN ANGELA E, BASSON CRAIG T, GOLDMUNTZ ELIZABETH, MAGOULAS PILAR L, MCDERMOTT DEBORAH A, et al. Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet Med [online] 2008 July, 10(7):469-494 [viewed 02 July 2014] Available from: doi:10.1097/GIM.0b013e3181772111
  4. NIGHTINGALE S, RAY GS. Paradoxical embolism causing stroke and migraine. J Postgrad Med [online] 2010 Jul-Sep, 56(3):206-8 [viewed 02 July 2014] Available from: doi:10.4103/0022-3859.68630
  5. POST MC, VAN GENT MW, PLOKKER HW, WESTERMANN CJ, KELDER JC, MAGER JJ, OVERTOOM TT, SCHONEWILLE WJ, THIJS V, SNIJDER RJ. Pulmonary arteriovenous malformations associated with migraine with aura. Eur Respir J [online] 2009 Oct, 34(4):882-7 [viewed 02 July 2014] Available from: doi:10.1183/09031936.00179008
  6. ANGRIMAN F, FERREYRO BL, WAINSTEIN EJ, SERRA MM. Pulmonary Arteriovenous Malformations and Embolic Complications in Patients With Hereditary Hemorrhagic Telangiectasia. Arch Bronconeumol [online] 2014 Jul, 50(7):301-304 [viewed 02 July 2014] Available from: doi:10.1016/j.arbres.2013.08.006
  7. KIKUCHI K, KOWADA M, SHIOYA H, SHIOYA T. Recurrent brain abscess associated with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease)--case report. Neurol Med Chir (Tokyo) [online] 1992 Nov, 32(12):891-5 [viewed 02 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/1282680
  8. LERUT J, ORLANDO G, ADAM R, SABBà C, PFITZMANN R, KLEMPNAUER J, BELGHITI J, PIRENNE J, THEVENOT T, HILLERT C, BROWN CM, GONZE D, KARAM V, BOILLOT O, THE EUROPEAN LIVER TRANSPLANT ASSOCIATION. Liver Transplantation for Hereditary Hemorrhagic Telangiectasia: Report of the European Liver Transplant Registry Ann Surg [online] 2006 Dec, 244(6):854-864 [viewed 02 July 2014] Available from: doi:10.1097/01.sla.0000247258.35406.a4
  9. FISHER M., ZITO J. L.. Focal cerebral ischemia distal to a cerebral aneurysm in hereditary hemorrhagic telangiectasia. Stroke [online] 1983 May, 14(3):419-421 [viewed 02 July 2014] Available from: doi:10.1161/01.STR.14.3.419
  10. TSAI D-C, WANG A-G, LEE A-F, HSU W-M, LIU J-H, YEN M-Y. Choroidal telangiectasia in a patient with hereditary hemorrhagic telangiectasia. Eye [online] 2002 January, 16(1):92-94 [viewed 02 July 2014] Available from: doi:10.1038/sj.eye.6700023

Examination

Fact Explanation
Telangiectases Telangiectases often appear about one year after patient presents with epistaxis. Mucosal involvement is seen in almost all patients. Skin lesions are pulsatile and measure about 1 to 3mm. they blanch with pressure. Similar lesions are seen in mucosal membranes and conjunctiva as well. [1]
Cyanosis Patients with pulmonary AVMs and large right to left shunts can have cyanosis. [4]
Polycythemia Prolong hypoxemia can result in secondary polycythemia. [2]
Jaundice Jaundice is seen in patients with hepatic involvement. [3]
Signs of pulmonary hypertension Some patients may develop pulmonary hypertension and have palpable second heart sound and loud pulmonary component of the second heart sound. [3]
Continuous thoracic bruit This is due to large pulmonary AVMs. [5]
Focal neurologic signs Focal neurologic signs can be detected in patients with stroke. [6]
Evidence of hyperdynamic circulation Anemia and large right to left shunts cause high output cardiac failure. Bounding pulse, aortic flow murmur can be detected. Peripheral edema, pulmonary crackles, and cardiomegaly are signs of heart failure. [7,8]
Fundoscopic examination Retinal telangiectasias, retinal hemorrhages, dilated and tortuous retinal vessels can be seen. [9,10]
References
  1. BERG J, PORTEOUS M, REINHARDT D, GALLIONE C, HOLLOWAY S, UMASUNTHAR T, LUX A, MCKINNON W, MARCHUK D, GUTTMACHER A. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations J Med Genet [online] 2003 Aug, 40(8):585-590 [viewed 01 July 2014] Available from: doi:10.1136/jmg.40.8.585
  2. MYLONA E, VADALA C, PAPASTAMOPOULOS V, SKOUTELIS A. Brain Abscess Caused by Enterococcus faecalis following a Dental Procedure in a Patient with Hereditary Hemorrhagic Telangiectasia J Clin Microbiol [online] 2012 May, 50(5):1807-1809 [viewed 02 July 2014] Available from: doi:10.1128/JCM.06658-11
  3. LERUT J, ORLANDO G, ADAM R, SABBà C, PFITZMANN R, KLEMPNAUER J, BELGHITI J, PIRENNE J, THEVENOT T, HILLERT C, BROWN CM, GONZE D, KARAM V, BOILLOT O, THE EUROPEAN LIVER TRANSPLANT ASSOCIATION. Liver Transplantation for Hereditary Hemorrhagic Telangiectasia: Report of the European Liver Transplant Registry Ann Surg [online] 2006 Dec, 244(6):854-864 [viewed 02 July 2014] Available from: doi:10.1097/01.sla.0000247258.35406.a4
  4. SAWYER SM, MENAHEM S, CHOW CW, ROBERTSON CF. Progressive cyanosis in a child with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease). Pediatr Pulmonol [online] 1992 Jun, 13(2):124-7 [viewed 02 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/1495857
  5. STEPHAN MJ, NESBIT GM, BEHRENS ML, WHITAKER MA, BARNWELL SL, SELDEN NR. Endovascular treatment of spinal arteriovenous fistula in a young child with hereditary hemorrhagic telangiectasia. Case report. J Neurosurg [online] 2005 Nov, 103(5 Suppl):462-5 [viewed 02 July 2014] Available from: doi:10.3171/ped.2005.103.5.0462
  6. KJELDSEN A. D., OXHOJ H., ANDERSEN P. E., GREEN A., VASE P.. Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT). J Intern Med [online] 2000 September, 248(3):255-262 [viewed 02 July 2014] Available from: doi:10.1046/j.1365-2796.2000.00725.x
  7. GOUSSOUS TAREQ, HAYNES ALEX, NAJARIAN KATHERINE, DACCARETT MARCOS, DAVID SHUKRI. Hereditary Hemorrhagic Telangiectasia Presenting as High Output Cardiac Failure during Pregnancy. Cardiology Research and Practice [online] 2009 December, 2009:1-3 [viewed 02 July 2014] Available from: doi:10.4061/2009/437237
  8. CHO D, KIM S, KIM M, SEO YH, KIM W, KANG SH, PARK SM, SHIM W. Two Cases of High Output Heart Failure Caused by Hereditary Hemorrhagic Telangiectasia Korean Circ J [online] 2012 Dec, 42(12):861-865 [viewed 02 July 2014] Available from: doi:10.4070/kcj.2012.42.12.861
  9. TSAI D-C, WANG A-G, LEE A-F, HSU W-M, LIU J-H, YEN M-Y. Choroidal telangiectasia in a patient with hereditary hemorrhagic telangiectasia. Eye [online] 2002 January, 16(1):92-94 [viewed 02 July 2014] Available from: doi:10.1038/sj.eye.6700023
  10. UğURLU N, EMRE S, YüLEK F, AKCAY EK, SENGUN A. Hereditary hemorrhagic telangiectasia with multiple fusiform retinal aneurysms J Ocul Biol Dis Infor [online] , 5(2):48-50 [viewed 02 July 2014] Available from: doi:10.1007/s12177-013-9100-y

Differential Diagnoses

Fact Explanation
Cockayne syndrome This is an autosomal recessive disease. The disease manifests around the age of six months, as cachectic dwarfism and developmental deterioration. [1,3]
Essential telangiectasia This is a rare disease and diagnosis is made by exclusion. Progressive development of telangiectases on the skin is characteristic. [2]
Actinic keratosis Actinic keratosis is a precursor of ultraviolet light related skin malignancy. Initial small lesions progressively enlarge and become red and scaly. [4]
Scleroderma Scleroderma (systemic sclerosis) is an autoimmune disease with extensive fibrosis. Telangiectasia is seen in scleroderma as well. [5]
CREST syndrome CREST syndrome is a combination of calcinosis, Raynaud's phenomenon, esophageal motility dysfunction, sclerodactyly, and telangiectasia. [5]
References
  1. ANDREWS ALAN D., BARRETT SUSANNA F., YODER FRANK W., ROBBINS JAY H.. COCKAYNE'S SYNDROME FIBROBLASTS HAVE INCREASED SENSITIVITY TO ULTRAVIOLET LIGHT BUT NORMAL RATES OF UNSCHEDULED DNA SYNTHESIS.. J Invest Dermatol [online] 1978 May, 70(5):237-239 [viewed 02 July 2014] Available from: doi:10.1111/1523-1747.ep12541383
  2. GORDON SPRATT EA, DEFELICE T, O'REILLY K, ROBINSON M, PATEL RR, SANCHEZ M. Generalized essential telangiectasia. Dermatol Online J [online] 2012 Dec 15, 18(12):13 [viewed 03 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/23286803
  3. PATTON M A, GIANNELLI F, FRANCIS A J, BARAITSER M, HARDING B, WILLIAMS A J. Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.. Journal of Medical Genetics [online] 1989 March, 26(3):154-159 [viewed 03 July 2014] Available from: doi:10.1136/jmg.26.3.154
  4. LEBWOHL MARK, SWANSON NEIL, ANDERSON LAWRENCE L., MELGAARD ANITA, XU ZHENYI, BERMAN BRIAN. Ingenol Mebutate Gel for Actinic Keratosis. N Engl J Med [online] 2012 March, 366(11):1010-1019 [viewed 03 July 2014] Available from: doi:10.1056/NEJMoa1111170
  5. GABRIELLI ARMANDO, AVVEDIMENTO ENRICO V., KRIEG THOMAS. Scleroderma. N Engl J Med [online] 2009 May, 360(19):1989-2003 [viewed 03 July 2014] Available from: doi:10.1056/NEJMra0806188

Investigations - for Diagnosis

Fact Explanation
Full blood count Hemoglobin is low with reduced mean corpuscular volume, mean corpuscular hemoglobin and mean corpuscular hemoglobin concentration in patients with iron deficiency anemia. Hemoglobin is elevated in patients with secondary polycythemia. White blood cells can be elevated in the presence of concurrent infection. [5]
Pulse oximetry Detects oxygen saturation. Especially useful in patients with pulmonary AVMs. [8]
Chest X-ray In pulmonary AVMs the dilated vessels are seen as enlarged masses. But chest X-ray is less sensitive in detecting AVMs. [9]
Echocardiogram Contrast echocardiography can demonstrate the shunt of blood from right heart to the left due to arteriovenous malformations. However in order to make the definitive diagnosis of pulmonary involvement a CT scan is necessary. [1]
Endoscopy Nodular angiomas are seen in the intestinal mucosa. Esophageal varices can also be detected in patients with portal hypertension. Endoscopy is the gold standard in diagnosing gastrointestinal involvement of HHT. [9]
CT Chest CT can diagnose pulmonary AVMs. Abdominal CT can detect hepatic and renal involvement. A high resolution CT is more sensitive in detecting pulmonary AVMs. [7]
MRI MRI has high sensitivity in detecting pulmonary AVMs. [9]
Genetic tests Identifies specific genetic mutations in the endoglin gene (chromosome 9) activin receptor like kinase type I gene (chromosome 12). [2,3]
Angiography Useful in detecting AVMs. Vessels are 3mm or more in diameter. Intrahepatic shunting can be seen in hepatic AVMs. [6,9]
Indocyanine Green Chorioangiography (ICG) ICG is helpful in visualizing ophthalmic involvement in HHT. Dilatated and tortuos choroidal vessels can be seen extending from the peripapillary area. [7]
References
  1. SHOVLIN CL, CHAMALI B, SANTHIRAPALA V, LIVESEY JA, ANGUS G, MANNING R, LAFFAN MA, MEEK J, TIGHE HC, JACKSON JE. Ischaemic Strokes in Patients with Pulmonary Arteriovenous Malformations and Hereditary Hemorrhagic Telangiectasia: Associations with Iron Deficiency and Platelets PLoS One [online] , 9(2):e88812 [viewed 01 July 2014] Available from: doi:10.1371/journal.pone.0088812
  2. JOHNSON DW, BERG JN, GALLIONE CJ, MCALLISTER KA, WARNER JP, HELMBOLD EA, MARKEL DS, JACKSON CE, PORTEOUS ME, MARCHUK DA. A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. Genome Res [online] 1995 Aug, 5(1):21-8 [viewed 02 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/8717052
  3. VINCENT P, PLAUCHU H, HAZAN J, FAURé S, WEISSENBACH J, GODET J. A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum Mol Genet [online] 1995 May, 4(5):945-9 [viewed 02 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/7633456
  4. POST MC, VAN GENT MW, PLOKKER HW, WESTERMANN CJ, KELDER JC, MAGER JJ, OVERTOOM TT, SCHONEWILLE WJ, THIJS V, SNIJDER RJ. Pulmonary arteriovenous malformations associated with migraine with aura. Eur Respir J [online] 2009 Oct, 34(4):882-7 [viewed 02 July 2014] Available from: doi:10.1183/09031936.00179008
  5. MYLONA E, VADALA C, PAPASTAMOPOULOS V, SKOUTELIS A. Brain Abscess Caused by Enterococcus faecalis following a Dental Procedure in a Patient with Hereditary Hemorrhagic Telangiectasia J Clin Microbiol [online] 2012 May, 50(5):1807-1809 [viewed 02 July 2014] Available from: doi:10.1128/JCM.06658-11
  6. LERUT J, ORLANDO G, ADAM R, SABBà C, PFITZMANN R, KLEMPNAUER J, BELGHITI J, PIRENNE J, THEVENOT T, HILLERT C, BROWN CM, GONZE D, KARAM V, BOILLOT O, THE EUROPEAN LIVER TRANSPLANT ASSOCIATION. Liver Transplantation for Hereditary Hemorrhagic Telangiectasia: Report of the European Liver Transplant Registry Ann Surg [online] 2006 Dec, 244(6):854-864 [viewed 02 July 2014] Available from: doi:10.1097/01.sla.0000247258.35406.a4
  7. TSAI D-C, WANG A-G, LEE A-F, HSU W-M, LIU J-H, YEN M-Y. Choroidal telangiectasia in a patient with hereditary hemorrhagic telangiectasia. Eye [online] 2002 January, 16(1):92-94 [viewed 02 July 2014] Available from: doi:10.1038/sj.eye.6700023
  8. OXHøJ H, KJELDSEN AD, NIELSEN G. Screening for pulmonary arteriovenous malformations: contrast echocardiography versus pulse oximetry. Scand Cardiovasc J [online] 2000 Jun, 34(3):281-5 [viewed 02 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/10935775
  9. CARETTE MF, NEDELCU C, TASSART M, GRANGE JD, WISLEZ M, KHALIL A. Imaging of Hereditary Hemorrhagic Telangiectasia Cardiovasc Intervent Radiol [online] 2009 Jul, 32(4):745-757 [viewed 02 July 2014] Available from: doi:10.1007/s00270-008-9344-2

Investigations - Fitness for Management

Fact Explanation
Liver function test Evaluation of hepatic enzymes, prothrombin time and serum bilirubin levels reflects the degree of hepatic involvement in HHT. [1]
References
  1. BEGBIE M E. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century. [online] 2003 January, 79(927):18-24 [viewed 02 July 2014] Available from: doi:10.1136/pmj.79.927.18

Investigations - Followup

Fact Explanation
Full blood count Patients with iron deficiency anemia need regular follow up of hemoglobin levels. [2]
Serum ferritin Serum ferritin is low in iron deficiency anemia. [2]
Chest X-ray Chest X-ray is done at least once during childhood, puberty, and before pregnancy. Thereafter it is repeated in 10-year intervals. [3]
Arterial blood gas analysis Presence of low oxygen saturation which cannot be corrected with breathing 100% oxygen is suggestive of pulmonary AVM. [4]
CT Chest CT is recommended to follow up patients after occlusion of pulmonary AVMs. [1]
Magnetic resonance angiogram As for the CT scan, magnetic resonance angiogram is recommended to follow up patients after occlusion of pulmonary AVMs. [1]
References
  1. CARETTE MF, NEDELCU C, TASSART M, GRANGE JD, WISLEZ M, KHALIL A. Imaging of Hereditary Hemorrhagic Telangiectasia Cardiovasc Intervent Radiol [online] 2009 Jul, 32(4):745-757 [viewed 02 July 2014] Available from: doi:10.1007/s00270-008-9344-2
  2. MCDONALD JAMIE, BAYRAK-TOYDEMIR PINAR, PYERITZ REED E.. Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis. Genetics in Medicine [online] 2011 July, 13(7):607-616 [viewed 02 July 2014] Available from: doi:10.1097/GIM.0b013e3182136d32
  3. DUPUIS-GIROD S., BAILLY S., PLAUCHU H.. Hereditary hemorrhagic telangiectasia: from molecular biology to patient care. [online] 2010 March, 8(7):1447-1456 [viewed 02 July 2014] Available from: doi:10.1111/j.1538-7836.2010.03860.x
  4. VAN GENT M. W. F., POST M. C., LUERMANS J. G. L. M., SNIJDER R. J., WESTERMANN C. J. J., PLOKKER H. W. M., OVERTOOM T. T., MAGER J. J.. Screening for pulmonary arteriovenous malformations using transthoracic contrast echocardiography: a prospective study. European Respiratory Journal [online] 2009 January, 33(1):85-91 [viewed 02 July 2014] Available from: doi:10.1183/09031936.00049008

Investigations - Screening/Staging

Fact Explanation
Pulse oxymetry [1] Reduced oxygen saturation despite breathing 100% oxygen is seen in the presence of pulmonary AVMs.
Contrast enhanced echocardiogram [1] Contrast enhanced echocardiography and CT are considered as the gold standards in detecting pulmonary artery AVMs. [2]
Helical CT Useful in detecting pulmonary AVMs. This is considered as the gold standard in detecting pulmonary AVMs. [2]
Contrast-enhanced MRI Like the CT this is a good screening option to screen for pulmonary and cranial AVMs. [3]
Prenatal diagnosis Genetic testing can be done to detect the presence of genetic mutations in the fetus. However since all the genetic abnormalities have not been detected genetic testing cannot accurately confirm or exclude the risk of HHT. [4]
References
  1. KJELDSEN AD, OXHøJ H, ANDERSEN PE, ELLE B, JACOBSEN JP, VASE P. Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia. Chest [online] 1999 Aug, 116(2):432-9 [viewed 02 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/10453873
  2. VAN GENT M. W. F., POST M. C., LUERMANS J. G. L. M., SNIJDER R. J., WESTERMANN C. J. J., PLOKKER H. W. M., OVERTOOM T. T., MAGER J. J.. Screening for pulmonary arteriovenous malformations using transthoracic contrast echocardiography: a prospective study. European Respiratory Journal [online] 2009 January, 33(1):85-91 [viewed 02 July 2014] Available from: doi:10.1183/09031936.00049008
  3. ALESSANDRINO F., FELISAZ P. F., LA FIANZA A.. Peliosis hepatis associated with hereditary haemorrhagic telangiectasia. Gastroenterology Report [online] December, 1(3):203-206 [viewed 02 July 2014] Available from: doi:10.1093/gastro/got021
  4. LINDEMAN HE, PLATENBURG-GITS FA. Communicative skills of the very old in old people's homes. Acta Otolaryngol Suppl [online] 1990:232-7; discussion 238 [viewed 02 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/2087970

Management - General Measures

Fact Explanation
Health education Patients should be educated about the genetic basis of the disease and the risk of transmission to subsequent generations. Female patients in child bearing age should be adequately counseled about the risk of transmission to the fetus. They should be advised to seek immediate health care once a significant bleeding episode is present.
Basic life support Some patients can present with shock due to hemorrhage. Assessment of airway, breathing and circulation should be done first. Airway patency should be maintained in unconscious patients with oropharyngeal airway or with tracheal intubation. Oxygen should be administered if oxygen saturation is low. Blood should be sent to the emergency grouping and crossmatching as soon as possible. Crystalloids are the intravenous fluid of choice for the initial resuscitation followed by colloids till blood is available for the transfusion. [3]
Hematinic Patients with iron deficiency anemia due to recurrent bleeding benefit from supplementation of hematinic. [4]
Antibiotic prophylaxis Antibiotic prophylaxis is indicated in all patients with pulmonary AVMs before surgical or dental procedures to minimize the risk of septicemia and septic embolization. [2]
Management of cerebral abscess Patients with cerebral abscess are treated with antibiotics and surgical drainage of the abscess where possible. [1]
References
  1. KIKUCHI K, KOWADA M, SHIOYA H, SHIOYA T. Recurrent brain abscess associated with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease)--case report. Neurol Med Chir (Tokyo) [online] 1992 Nov, 32(12):891-5 [viewed 02 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/1282680
  2. MYLONA E, VADALA C, PAPASTAMOPOULOS V, SKOUTELIS A. Brain Abscess Caused by Enterococcus faecalis following a Dental Procedure in a Patient with Hereditary Hemorrhagic Telangiectasia J Clin Microbiol [online] 2012 May, 50(5):1807-1809 [viewed 02 July 2014] Available from: doi:10.1128/JCM.06658-11
  3. BERG R. A., HEMPHILL R., ABELLA B. S., AUFDERHEIDE T. P., CAVE D. M., HAZINSKI M. F., LERNER E. B., REA T. D., SAYRE M. R., SWOR R. A.. Part 5: Adult Basic Life Support: 2010 American Heart Association Guidelines for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care. Circulation [online] December, 122(18_suppl_3):S685-S705 [viewed 02 July 2014] Available from: doi:10.1161/CIRCULATIONAHA.110.970939
  4. FINNAMORE H, LE COUTEUR J, HICKSON M, BUSBRIDGE M, WHELAN K, SHOVLIN CL. Hemorrhage-adjusted iron requirements, hematinics and hepcidin define hereditary hemorrhagic telangiectasia as a model of hemorrhagic iron deficiency. PLoS One [online] 2013, 8(10):e76516 [viewed 02 July 2014] Available from: doi:10.1371/journal.pone.0076516

Management - Specific Treatments

Fact Explanation
Conservative management Patients with mild HHT and who are stable may not need specific treatment. Conservative management is also indicated during pregnancy. [3]
Management of skin lesions Cauterization, hypertonic saline sclerotherapy, or dye laser treatment are useful in managing skin lesions. [4]
Management of epistaxis Humidification of inspired air, nasal packing, antifibrinolytics can be used in emergencies. Topical estrogen therapy, endoscopic ablation (electrocautery and argon beam ablation) nasal septum skin transplants are used for the treatment of recurrent epistaxis. [4,5]
Management of gastrointestinal bleeding Endoscopic ligation, photoablation, electrocautery, endo clot or sclerosant injection are endoscopic treatment options. Aminocaproic acid and bevacizumab are also used. Surgical resection of the affected segment is also done if the above measures fail. [6,7]
Management of pulmonary AVMs Selective embolization, silicone balloon tamponade or surgical resection are done to control symptomatic pulmonary AVMs. Ablation of pulmonary AVMs will help in minimizing the risk of cerebral emboli as well. [1]
Management of hepatic AVMs Patients may benefit from selective embolization. In the presence of hepatic dysfunction and congestive cardiac failure liver transplantation can be done. [2]
Management of cranial AVMs Neurosurgical resection can be attempted for selected accessible cranial lesions. [8]
References
  1. KIKUCHI K, KOWADA M, SHIOYA H, SHIOYA T. Recurrent brain abscess associated with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease)--case report. Neurol Med Chir (Tokyo) [online] 1992 Nov, 32(12):891-5 [viewed 02 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/1282680
  2. LERUT J, ORLANDO G, ADAM R, SABBà C, PFITZMANN R, KLEMPNAUER J, BELGHITI J, PIRENNE J, THEVENOT T, HILLERT C, BROWN CM, GONZE D, KARAM V, BOILLOT O, THE EUROPEAN LIVER TRANSPLANT ASSOCIATION. Liver Transplantation for Hereditary Hemorrhagic Telangiectasia: Report of the European Liver Transplant Registry Ann Surg [online] 2006 Dec, 244(6):854-864 [viewed 02 July 2014] Available from: doi:10.1097/01.sla.0000247258.35406.a4
  3. GOUSSOUS T, HAYNES A, NAJARIAN K, DACCARETT M, DAVID S. Hereditary Hemorrhagic Telangiectasia Presenting as High Output Cardiac Failure during Pregnancy Cardiol Res Pract [online] 2009:437237 [viewed 02 July 2014] Available from: doi:10.4061/2009/437237
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