Uncommon etiology of diffuse alveolar hemorrhage: Hereditary hemorrhagic telangiectasia.
Kinni H, and Hegab S. Uncommon etiology of diffuse alveolar hemorrhage: Hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med 2018; 197.
Am J Respir Crit Care Med
Diffuse alveolar hemorrhage (DAH) is a life threatening process with multiple etiologies. Diagnosing the underlying pathology of DAH is essential for targeting treatment. Certain pathologies such as hereditary hemorrhagic telangiectasia (HHT) are not well reported in the literature as a cause for DAH but can ultimately be fatal. A 20-year-old female who was 24 weeks pregnant with a medical history of a ventricular septal defect status post repair and several cutaneous arteriovenous malformations (AVMs) presented to an emergency department with hemoptysis. She had a two-month history of hemoptysis and intermittent epistaxis with worsening a few days prior to presentation. She reported 3-5 episodes of hemoptysis a day with associated chest pain and dyspnea. A CT pulmonary embolism revealed scattered and confluent areas of ground glass with septal thickening seen bilaterally. She did not have any preceding infections, travel history, or coagulation disorder. She was transferred to the ICU for escalation of care. On presentation to the ICU, she was tachypnic and hypoxic requiring high flow nasal cannula with saturations in the low 90s. She had additional episodes of hemoptysis so decision was made to intubate for worsening hypoxia and need for bronchoscopy for diagnostic and potential therapeutic intervention. Shortly after intubation, her saturation worsened requiring high FiO2and increasing PEEP to maintain saturations thus not allowing for bronchoscopy. She was initially started on broad-spectrum antibiotics to cover infectious etiologies however, given clinical picture, she was started on high dose methylprednisolone for autoimmune etiologies. Broad autoimmune and infectious work ups were unremarkable. With worsening hypoxia unable to be managed on the ventilator, she was placed on V-V ECMO. Her course progressed to circulatory collapse due to right ventricular failure. An attempt was made to convert to V-A ECMO but was unsuccessful due to anatomical limitations. She expired soon after. During her hospitalization, she had multiple blood transfusions due to pulmonary hemorrhage. Autopsy revealed diffuse alveolar hemorrhage with multiple microscopic hemangiomas. HHT is a rare and under recognized condition with complication by pulmonary hemorrhage being even less common. Hemoptysis can present in setting of pregnancy or pulmonary hypertension. Pregnancy in women with HHT is considered high risk due to enlargement of AVMs. Embolization can be considered but limited to large AVMs. Pharmacologic therapies are not well studied and lung transplantation can be considered in severe cases. To our knowledge, this is the first case of HHT presenting as DAH in pregnancy.