Portuguese Version

Year:  2002  Vol. 68   Ed. 2 - (21º)

Relato de Caso

Pages: 284 to 286

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Epistaxis as frequent manifestation of Bernard-Soulier syndrome

Author(s): S. A Araújo 1,
W. Alves 2,
L.M. Bueno 2,
C. Dionísio 3,
P.H. Siqueira 4

Keywords: epistaxis, Bernard-Soulier

Abstract:
The authors referred about one case of Bernard-Soulier Syndrome attended in the Otolaryngological Clinic of the Clinical Hospital of the Faculty of medicine of the Federal University of Goiás with nose, throat and gastro-intestinal manifestations. We discussing the most important considerations about clinical characteristics, diagnostic, treatment and evolution of the disease. We alert about the importance of think about bleeding disorder when the treatment is difficult in the recurrent epistaxis.

INTRODUCTION

Epistaxis is one of the most frequent emergencies in medical practice. In most cases (90%) it is originated from the anterior portion of the nasal cavity (Kisselbach plexus or Little area), where it may be controlled by chemical cauterization, electrocoagulation or anterior nasal packing. When bleeding originates from the most profound regions of the nasal cavity (10%), the classical treatment includes anterior-posterior nasal packing using gauze, Foley probe, sponges, etc. In many occasions, bleeding is persistent and intense, which is not controlled by classical methods, requiring ligation, arterial embolization or other intervention procedures1, 2.

In children, the most frequent causes of epistaxis are infectious processes, normally of upper airways, evident or occult sinusitis, allergic processes, blood or coagulation dyscrasia, endonasal tumors and external traumas. Among blood dyscrasia, we can list Von Willebrand disease, leukemia, some cases of drug hypersensitivity and Bernard-Soulier syndrome.

REVIEW OF LITERATURE

Bernard-Soulier syndrome is a rare hereditary affection characterized by reduction of platelets, giant platelets and absence of selective platelet interactions induced by Von Willebrand factor owing to abnormality of glucoprotein Ib present on the surface of the platelets. It was described for the first time by Bernard and Soulier in 1948. It is genetically inherited by recessive autosomal trait. Laboratory abnormalities are commonly demonstrated even in clinically non-affected heterozygous3.

Clinically, they are characterized by frequent severe hemorrhages, prolonged bleeding time with mild to moderate reduction of platelet count. In a report of a series of children with the syndrome, Rodeghiero et al4 referred that epistaxis was the most frequent and significant clinical manifestation. De Moerloose et al5 reported a case of a woman that experienced, since childhood, recurrent epistaxis, gingival hemorrhage and ecchymosis. Lubianca Neto et al6 reported the case of a child with profuse epistaxis that required embolization of internal maxillary artery via angiography.

The diagnosis of Bernard-Soulier syndrome should be based on clinical presentation confirmed by laboratory tests6. There may be recurrent epistaxis, gingival hemorrhage, ecchymosis, easy formation of hematoma, purpura and petechiae. Among laboratory abnormalities, the patient may present mild to moderate reduction of platelet count, giant platelets, prolonged bleeding time, absence of aggregation by ristocetin, absence or defect in glucoprotein Ib complex on the platelet membrane, but normal factor VIII and Von Willebrand factor7.

The treatment of Bernard-Soulier syndrome is based on maintaining or restoring the hemodynamic balance. Infusion of platelets is used and, in cases of epistaxis, nasal packing is applied6.

case report

RGO, 9-year-old female patient, melanodermic, was referred to the service of Otorhinolaryngology, Hospital das Clinicas, Federal University of Goiás, presenting severe epistaxis, with previous history of epistaxis episodes and nasal packing, and some blood transfusions with whole blood and platelet concentrates.

At the ENT examination, she showed active epistaxis in both nasal fossae. The remaining structures were normal. We applied anterior nasal packing and it succeeded. History: patient had been followed by the service of Pediatric Hematology, Hospital das Clinicas, Federal University of Goiás, for diagnostic investigation for two years with history of gingival bleeding, repetitive epistaxis, melena and hematemesis since 12 months of age. The diagnostic investigation started with coagulopathy that revealed CBC with microcytic and hypochromic anemia, normal leukocytes, and reduced platelet count with macroplatelet. Normal TTPa and TP with 83% and increased TS. Test of platelet aggregation with ristocetin was negative. In view of these lab findings, the diagnosis of Bernard-Soulier syndrome was made. The patient is currently stable and she has received some transfusions of platelet concentrate and erythrocytes since the diagnosis. Assessments with the Otorhinolaryngologist were required to apply nasal packing. Up to the present, there was no need for surgical interventions, such as arterial ligation or arterial embolization procedures.

DISCUSSION

Bernard-Soulier syndrome is a rare hereditary autosomal recessive affection3 with the clinical picture represented by prolonged hematoma, petecchiae, purpura, hypermenorrhagia and epistaxis 4, 5, 6, 7; that was the case of our patient who had relevant otorhinolaryngological manifestations of severe and repetitive epistaxis.

Laboratory abnormalities are commonly demonstrated even in non-affected clinically heterozygous3. In our patient, CBC showed microcytic and hypochromic anemia and significant reduction of platelet count with macroplatelets, normal TTPa and 83% TP with increased TS, negative platelet aggregation test with ristocetin. These data confirmed the diagnosis of Bernard-Soulier syndrome, based on clinical picture and laboratory tests6.

We should remember the possibility of having recurrent epistaxis, gingival hemorrhage, ecchymosis, easy formation of hematoma, purpura and petecchiae, and laboratory abnormalities, such as mild to moderate reduction of platelet count, giant platelet, prolonged bleeding time, absence of aggregation by ristocetin, absence or defect of glucoprotein Ib complex on the platelet membrane, plus normal activity of factor VIII and Von Willebrand factor7, which should be studied as a whole, including otorhinolaryngologists and hematologists.

The treatment of Bernard-Soulier syndrome aims at maintaining or restoring hemodynamic balance1, and it may use hemotherapy with platelet infusion or, in cases of epistaxis, nasal packing.

final remarks

Although Bernard-Soulier syndrome is a rare thrombocytopathy, it should be remembered because of epistaxis, especially when bleeding is repetitive and severe. We emphasized the need for diagnostic investigation and multidisciplinary treatment with participation of otorhinolaryngologist and pediatric hematologist.

REFERENCES

1. Stamm A.C. Microcirurgia naso-sinusal. Rio de Janeiro: Revinter 1995:289-297.
2. Merland Jj, Melki Jp, Chiras J, Riche Mc, Hadjean E. Place of embolization in the treatment of severe epistaxis. Laryngoscope 1980;90:1694-1704.
3. Bernard J, Soulier JP. Sur une nouvelle variete de dystrophie trombocytire hémorragipare congénitale. Sem Hôp Paris 1948;24:3217.
4. Rodeghiero F, Castaman G, Pesavento G, Bonato F, Muleo G, Consarino C. Recurrent life threatening epistaxis in a child with Bernard-Soulier Syndrome controlled by bilateral ligation of external carotids and ethmoidal arteries. Acta Haematol 1986;77:183-185.
5. De Moerleoose P, Vogel JJ, Clemetson KJ, Petile J, Bienz D, Bouvier CA. Bernard-Soulier syndrome in a Swiss family. Schweiz Med Wochensche 1987;1177:1817-1821.
6. Lubianca Neto JF, Brito LBT, Santos EF. Epistaxe como manifestação da Síndrome de Bernard-Soulier. Jornal de Pediatria 1997;73(2):111-114.
7. Pansatiankul BJ, Opartkiattikul N, Sangtawesin W. Bernard-Soulier Syndrome: a case report. Southeast Asian J Trop Med Public Health 1993;24:219-221.

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1 Master in Otorhinolaryngology, Doctorate studies under course, University of São Paulo, Assistant of the Service of Otorhinolaryngology, Hospital das Clínicas, Medical School, Federal University of Goiás.
2 Resident physician in Otorhinolaryngology, Hospital das Clínicas, Medical School, Federal University of Goiás.
3 Assistant physician, Service of Otorhinolaryngology, Hospital das Clínicas, Medical School, Federal University of Goiás
4 Assistant Professor, Head of the Service of Otorhinolaryngology, Hospital das Clinicas, Medical School, Federal University of Goiás.
Affiliation: Hospital das Clínicas, Medical School, Federal University of Goiás.

Address correspondence to: Simone Adad Araújo - Rua 20, número 324, ap. 201, Setor Central - Goiânia/ GO CEP 74030-110

Tel: (55 62) 224.2282 - e-mail: saadad@bol.com.br

Article submitted on January 8, 2001. Article accepted on October 29, 2001.

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