A gene missense mutation in diffuse pulmonary lymphangiomatosis with thrombocytopenia: A case report

Medicine (Baltimore). 2020 Sep 25;99(39):e21941. doi: 10.1097/MD.0000000000021941.


Introduction: Diffuse pulmonary lymphangiomatosis (DPL) is a rare condition. Most patients with DPL present dyspnea, cough, expectoration, and hemoptysis. There are few reports of DPL accompanied by thrombocytopenia, whose cause remains unknown.

Patient concerns: An 18-year-old male patient presented with recurrent cough, expectoration, and dyspnea for 5 years, and thrombocytopenia was observed during a 2-month follow-up.

Diagnosis: Chest computed tomography showed diffuse patchy shadows in both lungs, and pleural and pericardial effusions. Immunohistochemical lung tissue staining showed lymphatic and vascular endothelial cells positive for D2-40, CD31 and CD34. Routine blood test revealed platelets at 62 × 10 cells/L during follow-up. Bone marrow biopsy was normal. Ultrasound revealed no hepatosplenomegaly. Finally, the patient was diagnosed with DPL accompanied by thrombocytopenia.

Interventions: He was treated by subtotal pericardial resection, thoracocentesis, and anti-infective therapy. Oral prednisone was administered for 2 months.

Outcomes: The symptoms of cough and shortness of breath were improved, but thrombocytopenia persisted. We investigated the cause of thrombocytopenia. Whole-exome sequencing identified a mutation in exon 3 of the TNFRSF13B gene in this patient.

Conclusion: DPL may present with thrombocytopenia and DIC. Patients with thrombocytopenia but not DIC and splenomegaly should be screened for gene mutations.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Exome Sequencing
  • Humans
  • Lung Diseases / complications
  • Lung Diseases / congenital*
  • Lung Diseases / diagnostic imaging
  • Lung Diseases / genetics
  • Lung Diseases / pathology
  • Lymphangiectasis / complications
  • Lymphangiectasis / congenital*
  • Lymphangiectasis / diagnostic imaging
  • Lymphangiectasis / genetics
  • Lymphangiectasis / pathology
  • Male
  • Mutation, Missense
  • Thrombocytopenia / complications*
  • Thrombocytopenia / diagnosis
  • Tomography, X-Ray Computed
  • Transmembrane Activator and CAML Interactor Protein


  • TNFRSF13B protein, human
  • Transmembrane Activator and CAML Interactor Protein

Supplementary concepts

  • Lymphangiectasia, pulmonary, congenital