Laryngorhinootologie 2021; 100(06): 443-452
DOI: 10.1055/a-1408-5160
Originalarbeit

Hereditäre hämorrhagische Teleangiektasie: Symptome und diagnostische Latenz

Hereditary hemorrhagic telangiectasia: symptoms and diagnostic latency
Freya Droege
1   Klinik für Hals-Nasen-Ohrenheilkunde, Universitätsklinikum Essen, Germany
,
Cornelius H. L. Kuerten
1   Klinik für Hals-Nasen-Ohrenheilkunde, Universitätsklinikum Essen, Germany
,
Christina Kaiser
1   Klinik für Hals-Nasen-Ohrenheilkunde, Universitätsklinikum Essen, Germany
,
Julia Dingemann
1   Klinik für Hals-Nasen-Ohrenheilkunde, Universitätsklinikum Essen, Germany
,
Friederike Kaster
1   Klinik für Hals-Nasen-Ohrenheilkunde, Universitätsklinikum Essen, Germany
,
Philipp Marius Dahlfrancis
1   Klinik für Hals-Nasen-Ohrenheilkunde, Universitätsklinikum Essen, Germany
,
Carolin Lueb
1   Klinik für Hals-Nasen-Ohrenheilkunde, Universitätsklinikum Essen, Germany
,
Eleni Zioga
1   Klinik für Hals-Nasen-Ohrenheilkunde, Universitätsklinikum Essen, Germany
,
Kruthika Thangavelu
2   Klinik für Hals-Nasen-Ohrenheilkunde, Philipps-Universität Marburg, Germany
,
Stephan Lang
1   Klinik für Hals-Nasen-Ohrenheilkunde, Universitätsklinikum Essen, Germany
,
Urban Geisthoff
2   Klinik für Hals-Nasen-Ohrenheilkunde, Philipps-Universität Marburg, Germany
› Author Affiliations

Zusammenfassung

Hintergrund Patienten mit hereditärer hämorrhagischer Teleangiektasie (HHT) leiden unter einer systemischen Erkrankung des Gefäßbindegewebes, bei der eine Vielzahl verschiedener Symptome auftritt.

Material und Methoden Die Daten aller Patienten, die sich von April 2014 bis August 2019 im Westdeutschen Morbus-Osler-Zentrum vorstellten, wurden in einer retrospektiven Studie analysiert.

Ergebnisse Bei 235 Patienten konnte die Diagnose HHT als definitiv (235/282; 83 %) und bei 26 als möglich gestellt werden (26/282; 9 %). Die mittlere diagnostische Latenz zwischen Erstsymptomen und Diagnose betrug 18 Jahre. Direkte oder indirekte Blutungszeichen wurden oft als erste Symptome der Erkrankung HHT genannt (224/241; 93 %). 83 % der Patienten mit einem Grad der Behinderung gaben HHT als Hauptursache an. Insbesondere ältere, weibliche Patienten bzw. Patienten mit starker Epistaxis litten an einer chronischen Eisenmangelanämie (Eisensubstitution:148/261; 57 %; Erythrozytenkonzentrate: Mittelwert: 9 ± Standardabweichung: 41, Minimum – Maximum: 0–400, Anzahl der Patienten: 218). 10 % erhielten eine Thrombozytenaggregationshemmung oder Antikoagulation und tolerierten diese. 74 % der Patienten mit HHT pflegten ihre Nasenschleimhaut (177/238) und zeigten weniger Blutungen als Patienten ohne Nasenpflege (ESS: t-Test: 3,193; p = 0,003; Anämie: Chi-Quadrat: 5,173; p = 0,023).

Schlussfolgerungen Die Diagnoselatenz der Erkrankung HHT betrug knapp 2 Jahrzehnte. Patienten mit HHT leiden insbesondere an rezidivierenden Blutungen, die dabei meistindizierte Behandlung der ersten Wahl ist eine konsequente Nasenpflege und verschiedene koagulative Therapieoptionen. Bei Begleiterkrankungen mit Indikation zur Gerinnungshemmung lohnt es sich meist, deren Einsatz zu versuchen.

Abstract

Objective Patients with hereditary hemorrhagic Telangiectasia (HHT) suffer from a rare and systemic disease which is characterized by vascular malformations leading to a variety of different symptoms.

Material and Methods A retrospective review of patients who were referred to our new HHT Center of Excellence (HHT COE) for evaluation and treatment between April 2014 and August 2019 was performed.

Results 235 patients were treated at the West German HHT Center. 83 % of these were diagnosed with definite HHT (235/282, 83 %) and 9 % with possible HHT (26/282). The average latency between first manifestation and definite diagnosis of HHT was 18 years. Several initial symptoms were direct or indirect signs of bleeding (224/241, 93 %). In 83 % of the patients HHT was reported having caused their degree of disability. Older, female patients and those with severe epistaxis suffered from chronic iron deficiency anemia, took iron preparations (148/261, 57 %) and received 9 blood transfusions on average (± standard deviation: 41, minimum – maximum: 0–400, number of patients: 218). 10 % of all patients tolerated anticoagulant or antiplatelet agents. 74 % of patients with HHT used nasal creams/sprays/oils (177/238) and reported fewer bleedings compared to patients without nasal care (ESS: T-Test: 3.193; p = 0.003; anemia: Chi-square: 5.173; p = 0.023).

Conclusions The diagnostic latency of HHT was almost two decades. Patients with HHT particularly suffered from recurrent epistaxis, which was mostly treated with nasal care and coagulative therapies. Antiplatelet or anticoagulant agents can be used in patients with HHT with caution if indicated.



Publication History

Received: 11 April 2020

Accepted: 02 March 2021

Article published online:
24 March 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 
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