ABSTRACT
BACKGROUND: The incidence of hereditary haemorrhagic telangiectasia (HHT - Osler-Weber-Rendu disease) in the Netherlands is 1:5000 but approximately 1:1300 in people from the Antilles. The disease is characterised by the development of telangiectasia and arteriovenous malformations (AVMs) that may result in serious morbidity and mortality. CASE DESCRIPTION: A 31-year-old primigravid patient consulted her general practitioner at 31 1/7 weeks gestational age with dyspnoea. She was referred for further diagnostics because of suspected pulmonary embolism. A CT scan showed haemothorax and a bleeding arteriovenous malformation (AVM) in the left lung. Family history suggested the possibility of HHT. After multidisciplinary consideration, a primary caesarean section was performed, followed by embolisation of the AVM during the same surgical session. The patient had a gene mutation consistent with HHT type 2. CONCLUSION: Pregnant patients with HHT are at risk of serious morbidity, especially if they are not screened for AVMs. A multidisciplinary approach for such patients, with consideration of various scenarios, is highly recommended.
Subject(s)
Arteriovenous Malformations/genetics , Hemothorax/genetics , Pregnancy Complications, Cardiovascular/genetics , Telangiectasia, Hereditary Hemorrhagic/complications , Adult , Female , Gestational Age , Humans , Lung/blood supply , Pregnancy , Telangiectasia, Hereditary Hemorrhagic/genetics , Tomography, X-Ray ComputedSubject(s)
Factor IX/genetics , Hematoma/genetics , Hemothorax/genetics , International Normalized Ratio , Laryngeal Diseases/genetics , Mutation, Missense , Vitamin K/antagonists & inhibitors , Acenocoumarol/administration & dosage , Amino Acid Substitution , Anticoagulants/administration & dosage , Factor IX/metabolism , Hematoma/blood , Hematoma/drug therapy , Hemothorax/diagnostic imaging , Hemothorax/drug therapy , Humans , Laryngeal Diseases/blood , Laryngeal Diseases/diagnostic imaging , Laryngeal Diseases/drug therapy , Male , Middle Aged , Pedigree , RadiographyABSTRACT
The occurrence of significant pulmonary hemorrhage associated with pulmonary arteriovenous malformations (PAVMs) and hereditary hemorrhagic telangiectasia (HHT) and the incidence of PAVMs in family members of patients with PAVMs and HHT are poorly defined. We reviewed our experience in 143 patients with PAVMs and HHT. Eleven (8 percent) of the 143 patients with HHT and PAVMs had a history of either massive hemoptysis or of hemothorax which required hospitalization. One patient died directly related to the pulmonary hemorrhage. There were four men and seven women. Three of the seven women experienced pulmonary hemorrhage during pregnancy. Seven of the 11 families participated in screening for PAVMs. Thirty-six (80 percent) of the 45 screened family members were found to have HHT. Thirteen (36 percent) of the 36 family members with HHT were proven to have PAVMs by pulmonary angiography. Pulmonary hemorrhage due to spontaneous rupture of the PAVM is a potentially life-threatening complication that should be treated aggressively with transcatheter embolotherapy. It occurs more frequently than previously recognized in patients with PAVMs and HHT. In addition, because of the increased incidence of PAVMs in family members of patients with HHT and PAVM, screening of family members with HHT is recommended especially in women of childbearing age.
