title: Isolated congenital spleen agenesis: a rare cause of chronic thromboembolic pulmonary hypertension in an adult.
abstract: This report describes a case of isolated congenital spleen agenesis complicated by chronic thromboembolic pulmonary hypertension (CTPH) in a 44-year-old female patient. The patient had increasing exertional dyspnoea and thrombocytosis. An echocardiogram showed severe pulmonary hypertension and right ventricular hypertrophy, and contrast-enhanced chest CT revealed multiple thromboemboli within both pulmonary arteries. A perfusion lung scan demonstrated multiple segmental defects and no spleen was detected by abdominal CT, ultrasonography or scintigraphy. Comprehensive clinical examinations disclosed no evidence of a thrombus elsewhere or of an associated malformation such as a cardiac anomaly. Anticoagulation therapy was started, and a perfusion lung scan revealed partial improvement of the hypoperfusion in the right lower lobe. However, repeat echocardiography showed the pulmonary hypertension persisting for 1 year. The multiple segmental defects in the perfusion lung scans were also persistent. Collectively, a diagnosis of CTPH with isolated congenital spleen agenesis was established. This is the first documented case of CTPH in an adult with isolated congenital asplenia. Although congenital spleen agenesis is a rare condition, this case report suggests that this possibility should be considered when a diagnosis of CTPH and thrombocytosis is made.
authors.affiliation: Department of Respiratory Medicine, Juntendo University School of Medicine, Tokyo, Japan. fumiyuki@med.juntendo.ac.jp
authors.forename: Fumiyuki
authors.initials: F
authors.lastname: Takahashi
authors.forename: Koji
authors.initials: K
authors.lastname: Uchida
authors.forename: Tetsutaro
authors.initials: T
authors.lastname: Nagaoka
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Honma
authors.forename: Ri
authors.initials: R
authors.lastname: Cui
authors.forename: Masakata
authors.initials: M
authors.lastname: Yoshioka
authors.forename: Yoshiteru
authors.initials: Y
authors.lastname: Morio
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Suzuki
authors.forename: Shigeru
authors.initials: S
authors.lastname: Tominaga
authors.forename: Kazuhisa
authors.initials: K
authors.lastname: Takahashi
authors.forename: Yoshinosuke
authors.initials: Y
authors.lastname: Fukuchi
mesh_terms: D000328:Adult; D004417:Dyspnea / Q000209:etiology; D005260:Female; D006801:Humans; D006976:Hypertension, Pulmonary / Q000209:etiology*; D011651:Pulmonary Artery / Q000000981:diagnostic imaging; D011655:Pulmonary Embolism / Q000150:complications* / Q000000981:diagnostic imaging; D013154:Spleen / Q000002:abnormalities*; D013922:Thrombocytosis / Q000209:etiology; D014057:Tomography, X-Ray Computed