Anesthetic management of a patient with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome): case report

Abstracts

JUSTIFICATIVA E OBJETIVOS: A telangiectasia hemorrágica hereditária (THH), também conhecida como síndrome de Rendu-Osler-Weber, é uma doença autossômica dominante, caracterizada por displasia vascular mucocutânea e visceral associada a episódios freqüentes de epistaxe e sangramentos gastrintestinais. O objetivo do presente relato foi descrever a anestesia em paciente portador dessa síndrome. RELATO DO CASO: Paciente do sexo masculino, 25 anos, submetido à correção cirúrgica de fratura de órbita esquerda. Portador da tríade epistaxe recorrente, histórico familiar e telangectasia, apresentava diagnóstico de THH. Durante a investigação pré-operatória não foram encontradas malformações vasculares pulmonares, encefálicas ou do trato gastrintestinal. O paciente foi submetido à anestesia venosa total, uma hora após a administração profilática de antifibrinolítico. O sangramento foi considerado normal para a operação proposta e não houve instabilidade hemodinâmica ou necessidade de transfusão sanguínea perioperatória. A extubação ocorreu na sala cirúrgica e o paciente foi liberado para o quarto após 60 minutos e a alta hospitalar foi após 24 horas. CONCLUSÕES: A THH é uma doença autossômica dominante que provoca displasia vascular musculocutânea e visceral. Pode haver perda sanguínea perioperatória acima da esperada para pacientes portadores dessa síndrome. Como o sangramento não é resultado de defeito na cascata de coagulação mas da exposição cirúrgica da estrutura vascular malformada, a conduta perioperatória inclui o emprego de antifibrinolíticos, a realização de hemostasia adequada e da hipotensão arterial induzida, quando não houver contra-indicação. A avaliação pré-anestésica deve incluir a pesquisa de malformações vasculares encefálicas, pulmonares ou do trato gastrintestinal.

DOENÇAS, Genética; DOENÇAS, Genética

CLINICAL REPORT

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Manoseo anestésico de paciente portador de telangiectasia hemorrágica hereditaria (síndrome de Rendu - Osler - Weber). Relato de caso

Alexandre Palmeira Goulart, TSA, M.D.^I; Eduardo Toshiyuki Moro,TSA, M.D.^II; Valter Moreno Guasti, TSA, M.D.^II; Régis Faria Colares, M.D.^III

^IInstrutor CET/SBA do Conjunto Hospitalar de Sorocaba (PUC/SP); Anestesiologista do Hospital Unimed de Sorocaba, SP

^IICo-Responsável pelo CET/SBA do Conjunto Hospitalar de Sorocaba (PUC/SP); Anestesiologista do Hospital Unimed de Sorocaba, SP

^IIIAnestesiologista do Hospital Unimed de Sorocaba — SP

Correspondence to

SUMMARY

BACKGROUND AND OBJECTIVES: Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is an autosomal dominant disorder characterized by mucocutaneous and visceral vascular dysplasia associated with frequent episodes of epistaxis and gastrointestinal bleeding. The objective of this report was to describe the anesthesia of a patient with this syndrome.

CASE REPORT: A 25 years old male patient underwent surgical correction of an orbital fracture. He had the triad of recurrent epistaxis, family history, and telangiectasia, and had been diagnosed with HHT. Pulmonary, brain, or gastrointestinal tract vascular malformations were not detected in the preoperative investigation. The patient underwent total venous anesthesia one hour after the administration of an antifibrinolytic drug. Bleeding was considered normal for this type of surgery, and hemodynamic instability or the need of perioperative blood transfusion was not detected. The patient was extubated in the operating room; he was transferred to the room after 60 minutes and discharged from the hospital after 24 hours.

CONCLUSIONS: Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder that leads to mucocutaneous and visceral vascular dysplasia. Perioperative blood loss can be greater than expected in patients with this syndrome. Since bleeding does not result from a defect in the coagulation cascade but from the surgical exposure of malformed vascular structures, perioperative conduct includes the use of antifibrinolytics, adequate homeostasis, and induced hypotension in the absence of contraindications. Pre-anesthetic evaluation should include the search for brain, lung, and gastrointestinal vascular malformation.

Key Words: DISEASES, Genetics: hereditary hemorrhagic telangiectasia, Rendu-Osler-Weber syndrome.

RESUMEN

JUSTIFICATIVA Y OBJETIVOS: La telangiectasia hemorrágica hereditaria (THH), también conocida como síndrome de Rendu-Osler-Weber, es una enfermedad autosómica dominante, caracterizada por displasia vascular muco-cutánea y visceral asociada a frecuentes episodios de epistaxis y sangramientos gastrointestinales. El objetivo del presente relato fue el de describir la anestesia en paciente portador de ese síndrome.

RELATO DEL CASO: Paciente del sexo masculino, 25 años, sometido a la corrección quirúrgica de fractura de órbita izquierda. Portador de la tríade epistaxis recurrente, historial familiar y telangiectasia presentaba diagnóstico de THH. Durante la investigación preoperatoria no se encontraron malformaciones vasculares pulmonares, encefálicas o del tracto gastrointestinal. El paciente se sometió a la anestesia venosa total, una hora después de la administración profiláctica de antifibrinolítico. El sangramiento fue considerado normal para la operación propuesta, y no hubo inestabilidad hemodinámica o necesidad de transfusión sanguínea perioperatoria. La extubación fue hecha en la sala de cirugía, y el paciente fue enviado a la habitación 60 minutos después. El alta fue en 24 horas.

CONCLUSIONES: La THH es una enfermedad autosómica dominante, caracterizada por displasia vascular muco-cutánea y visceral. Puede haber pérdida sanguínea perioperatoria por encima de la esperada para pacientes portadores de ese síndrome. Como el sangramiento no es resultado de un defecto en la cascada de coagulación, sino de la exposición quirúrgica de la estructura vascular malformada, la conducta perioperatoria incluye el uso de antifibrinolíticos, la realización de una hemostasis adecuada y la hipotensión arterial inducida, cuando no haya contraindicación. La evaluación preanestésica debe incluir la investigación de malformaciones vasculares encefálicas, pulmonares o del tracto gastrointestinal.

INTRODUCTION

Hereditary hemorrhagic telangiectasia (HHT) also known as Rendu-Osler-Weber syndrome is a rare systemic fibrovascular dysplasia, autosomal dominant with a high degree of penetrance, incidence of 1 to 2/100,000, which can compromise blood vessels in the skin, mucous membranes, lungs, and gastrointestinal tract. It is recognized by the classical triad of telangiectasia in the face, hands, and oral cavity, recurring epistaxis, and family history ¹. The objective of this report was to describe the anesthesia of a patient with this syndrome who underwent surgical correction of an orbital fracture.

CASE REPORT

A 25 years old male with HHT underwent surgical treatment of a left orbital fracture. In the pre-anesthetic evaluation he did not have complaints suggestive of any disease, and physical exam did not reveal lung or cardiovascular abnormalities or in any other system besides the orbital fracture. Preoperative laboratorial exams showed: hemoglobin: 18 g.dL^-1; hematocrit: 54%; platelets: 177,000 mm^-3: aPTT: normal; PT: normal; INR: 1.1. Since he presented the classical triad (epistaxis, family history, and telangiectasia), a Hematology consult was requested; after confirming the absence of pulmonary, brain, and gastrointestinal tract vascular malformations, the prophylactic use of epsilon-aminocaproic acid (EACA), 200 mg.kg^-1.day^-1 intravenous (1 hour before surgery and every 6 hours in the first 24 postoperative hours) was suggested.

Pre-anesthetic medication (15 mg of oral midazolam) was administered with good results. In the operation room, monitoring consisted of cardioscope on D_II, V, and aVF derivations, pulse oximeter, and non-invasive blood pressure. Anesthetic induction was accomplished with alfentanil (30 µg.kg^-1) followed by the bolus administration of propofol (2.5 mg.kg^-1) associated with rocuronium (0.6 mg.kg^-1). Remifentanil (0.2 µg .kg^-1.min^-1) and propofol (60 µg.kg^-1.min^-1) were used for maintenance. After tracheal intubation, controlled ventilation with reinalation with a tidal volume of 8 mL.kg^-1, respiratory rate 8 bpm, FiO₂ 0.6 (oxygen and compressed air) was instituted. Expired CO₂ was monitored by capnography and maintained between 30 and 35 mmHg. The surgery lasted 130 minutes. Intraoperatively, the patient remained hemodynamically stable, and bleeding was considered normal for this type of surgery. At the end of the procedure, after the administration of morphine (8 mg) and ondansetron (8 mg) intravenous, the patient was extubated and transferred to the post-anesthetic care unit, where he remained for 60 minutes. Epsilon aminocaproic acid was administered postoperatively as recommended by the hematology department. The patient was discharged from the hospital after 24 hours without any postoperative complications.

DISCUSSION

Although the first reports of HHT have been attributed to Sutton (1864), Rendu in 1896 was the first to recognize the combination of hereditary epistaxis and telangiectasia as an entity distinct from hemophilia. In 1909, Hanes created the terminology "hereditary hemorrhagic telangiectasia", recognizing the characteristics that define the disease ². The initial lesion is based on the structural deficiency of the wall of the blood vessels, characterized by changes in the elastic and muscular layers, making it more vulnerable to traumas and spontaneous ruptures ^1,3.

Several genes have been implicated in the pathogenesis of the disease, and two have been identified: Endoglin (9q:33-34), associated with central nervous system (CNS) and pulmonary manifestations, and transforming growth factor BII receptor (3p 32), related with the blood vessels. Homozygous states seem to be fatal; however, very few cases are known, and chromosome 12q is associated with telangiectasia and recurrent epistaxis ^4-6.

Mucocutaneous involvement includes 1 to 3 mm macular telangiectasia and, in 60% of the patients, episodes of epistaxis develop 10 to 30 years later. Lesions in the palms are seen in 71% of the cases, and in the nail beds, lips, and tongue in 66% of the cases. The face, extremities, conjunctiva, and trunk can also be affected ⁷.

The diagnosis of HHT is based on the clinical evaluation of the patient. The criteria include the classical triad of epistaxis, telangiectasia, and family history; however, this triad is not seen in all cases. Several authors make a diagnosis of HHT in the presence of at least two manifestations of the triad associated with some well-documented visceral involvement ⁸.

Clinical manifestations are secondary to bleeding and can affect any area of the body. In 90% of the cases, recurring epistaxis is the most common symptom. Pulmonary manifestations of HHT include hemoptysis, hemothorax, right-left shunt, and paradoxical embolism. They are secondary to arteriovenous malformations (AVM) and fistulas, present in 23% of the patients. Central nervous system complications vary from a transient ischemic attack to an abscess or intracranial bleeding. Manifestations of the gastrointestinal tract include telangiectasia, arteriovenous malformations and varicosities, which can cause upper gastrointestinal hemorrhage, and liver dysfunction and encephalopathy ⁶.

Treatment is palliative. A consensus on the best treatment option does not exist. The objective of treatment is to promote control of the disease for as long as possible with little intervention, trying to avoid sequelae ⁹.

Although neuroaxis block does not apply to the case in question, in surgeries in which this technique is an option, it is important to evaluate the possibility of spinal vascular changes, which would increase the risk of accidents, such as formation of an epidural hematoma or the intravascular administration of local anesthetics.

The antifibrinolytic activity of aminocaproic acid, leading to hemorrhage control, is the theoretical basis for its use. The success of the treatment with this agent and with tranexamic acid in HHT in cases of epistaxis and gastrointestinal and genitourinary tract bleedings has been described ¹⁰. In the case presented here, it is not possible to conclude that the lack of excessive bleeding during the surgery was due to the administration of the antifibrinolytic. The patient did not have malformations or telangiectasia in target-organs, which contributed to the good perioperative evolution.

The authors conclude, based on the knowledge of the pathophysiological characteristics of the disease, that HHT demands complete preoperative evaluation before any invasive or surgical procedure to reduce the risks of perioperative complications.

REFERENCES

• 01. Pau H, Carney AS, Murty GE — Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): otorhinolaryngological manifestations. Clin Otolaryngol, 2001;26:93-98.
• 02. Guttmacher AE, Marchuk DA, White RI Jr — Hereditary hemorrhagic telangiectasia. N Engl J Med, 1995;333:918-924.
• 03. Gluckman JL, Portugal LG — Modified young's procedure for refractory epistaxis due to hereditary hemorrhagic telangiectasia. Laryngoscope, 1994;104:1174-1177.
• 04. Kjeldsen AD, Brusgaard K, Poulsen L et al. — Mutations in the ALK-1 gene and the phenotype of hereditary haemorragic telangiectasia in two large Danish families. Am J Med Genet, 2001;98:298-302.
• 05. Paquet ME, Pece-Barbara N, Vera S et al. — Analysis of several endoglin mutants reveals on endogenous mature or secreted protein capable of interfering with normal endoglin function. Hum Mol Genet, 2001;10:1347-1357.
• 06. Garcia RID, Cecatto SB, Costa KS et al. — Síndrome de Rendu-Osler-Weber: tratamento clínico e cirúrgico. Rev Bras Otorrinolaringol, 2003;69:577-580.
• 07. Byahatti SV, Rebeiz EE, Shapshay SM — Hereditary haemorrhagia telangiectasia: what the otolaryngologist should know. Am J Rhinol, 1997;11:55-62.
• 08. Kjeldsen AD, Vase P, Green A — Hereditary haemorragic telangiectasia: a population- based study of prevalence and mortality in Danish patients. J Int Med, 1999;245:31-39.
• 09. Rebeiz EE, Bryan DJ, Ehrlichman RJ et al. — Surgical management of life-threatening epistaxis in Osler-Weber-Rendu disease. Ann Plastic Surg, 1995;35:208-213.
• 10. Sabba HI, Morelli GA, Logrono LA — Treatment of bleeding in hereditary hemorrhagic telangiectasia with aminocaproic acid. N Eng J Med, 1994;330:1789-1790.

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Recebido do CET/SBA Conjunto Hospitalar de Sorocaba — PUC/SP

Publication Dates

• Publication in this collection
  16 Feb 2009
• Date of issue
  Feb 2009

History

• Accepted
  11 Sept 2008
• Received
  01 Feb 2008