Rare Diseases Symptoms Automatic Extraction

Upper extremity venous aneurysm as a source of pulmonary emboli.

[thoracic outlet syndrome]

Spontaneous venous aneurysms of the upper extremities and neck are rare and typically asymptomatic. We present the first reported case of a symptomatic, primary upper extremity venous aneurysm in a patient who initially presented with pulmonary emboli. A 22-year-old patient was admitted with chest pain, dyspnea, and a right axillary mass. Computed tomography revealed diffuse, bilateral pulmonary emboli in addition to a thrombosed axillary vein. Venography confirmed the diagnosis, and also revealed a subclavian vein stenosis at the crossing of the first rib. Pharmacomechanical thrombolysis, catheter-directed thrombolysis, and venoplasty were performed with adequate flow restoration, also revealing the presence of a previously thrombosed proximal brachial/distal axillary venous aneurysm. Hematologic testing showed a positive and persistent lupus anticoagulant. The patient declined surgical reconstruction and opted for long-term anticoagulation. At 24 months, the patient continued to remain symptom-free.

Diseases presenting "first reported case" symptom

  • achondroplasia
  • acute rheumatic fever
  • alexander disease
  • allergic bronchopulmonary aspergillosis
  • aniridia
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • epidermolysis bullosa simplex
  • fabry disease
  • focal myositis
  • harlequin ichthyosis
  • heparin-induced thrombocytopenia
  • kabuki syndrome
  • malignant atrophic papulosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • pleomorphic liposarcoma
  • primary hyperoxaluria type 1
  • thoracic outlet syndrome
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • werner syndrome
  • wolf-hirschhorn syndrome

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