<abstract xmlns="http://www.w3.org/1999/xhtml"><p>The present authors report the case of an adult male with no medical history, who developed prolonged fever of unknown cause, progression of anemia and lung fibrosis. A hematological disease was suspected and further investigations were done. The bone marrow aspirate raised the suspicion of Gaucher’s disease. The positive diagnosis was Gaucher’s disease with lung involvement (pulmonary fibrosis and pulmonary hypertension), and cardiac involvement (restrictive cardiomyopathy). Clinical evolution was unfavorable, and the patient died of cardiorespiratory failure.</p><p> In conclusion, the present case report illustrates a late diagnosis of Gaucher’s disease with lung and cardiac involvement resulting in death in a short period</p></abstract>

The present authors report the case of an adult male with no medical history, who developed prolonged fever of unknown cause, progression of anemia and lung fibrosis. A hematological disease was suspected and further investigations were done. The bone marrow aspirate raised the suspicion of Gaucher’s disease. The positive diagnosis was Gaucher’s disease with lung involvement (pulmonary fibrosis and pulmonary hypertension), and cardiac involvement (restrictive cardiomyopathy). Clinical evolution was unfavorable, and the patient died of cardiorespiratory failure. In conclusion, the present case report illustrates a late diagnosis of Gaucher’s disease with lung and cardiac involvement resulting in death in a short period

A case of late diagnosis of Gaucher disease with lung involvement (case study)

Department of Internal Medicine Clinical Emergency Hospital of Constanta

1Department of Internal Medicine Clinical Emergency Hospital of Constanta

Department of Oncology Clinical Emergency Hospital of Constanta

Department of Cardiology Clinical Emergency Hospital of Constanta

ARS Medica Tomitana

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

{"article-title":"A case of late diagnosis of Gaucher disease with lung involvement (case study)"}

The present authors report the case of an adult male with no medical history, who developed prolonged fever of unknown cause, progression of anemia and lung...

A case of late diagnosis of Gaucher disease with lung involvement (case study)

Publié en ligne: 29 juil. 2015

Pages: 63 - 66

DOI: https://doi.org/10.1515/arsm-2015-0022

Mots clés
Gaucher disease, pulmonary fibrosis, pulmonary hypertension

© by Laura Mazilu

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

A case of late diagnosis of Gaucher disease with lung involvement (case study)

Publié en ligne: 29 juil. 2015

Pages: 63 - 66

DOI: https://doi.org/10.1515/arsm-2015-0022

Mots clésGaucher disease, pulmonary fibrosis, pulmonary hypertension

© by Laura Mazilu

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Mots clés
Gaucher disease, pulmonary fibrosis, pulmonary hypertension