Pulmonary arterial hypertension associated with neurofibromatosis type 1.
The authors report a case of severe pulmonary arterial hypertension (PAH) in a 75-year-old woman who had received a diagnosis of neurofibromatosis type 1 (NF1) 23 years before. She presented with progressive dyspnoea and recurrent syncope. Even though the patient initially improved after starting supportive and specific treatment for PAH, she then deteriorated and died from respiratory failure 11 months after the diagnosis of PAH. Prompt recognition of such an unusual association between PAH and NF1 and appropriate therapeutic intervention could ameliorate quality of life and prolong survival in this patient population.
Department of Internal Medicine, Hospital of Laredo, Laredo, Spain. mcarrascosa@hlrd.scsalud.es
Miguel F
MF
Carrascosa
Isabel Celemín
IC
Larroque
Juan-Luis García
JL
Rivero
José-Antonio Saiz-Quevedo
JA
García
Marta Cano
MC
Hoz
Miguel Ares
MA
Ares
Xabier Arrastio
XA
López
José-Ramón Salcines
JR
Caviedes
D000368:Aged; D000925:Anticoagulants / Q000627:therapeutic use; D003131:Combined Modality Therapy; D004232:Diuretics / Q000627:therapeutic use; D004417:Dyspnea / Q000209:etiology; D017809:Fatal Outcome; D005260:Female; D005500:Follow-Up Studies; D005665:Furosemide / Q000627:therapeutic use; D006801:Humans; D006976:Hypertension, Pulmonary / Q000175:diagnosis* / Q000628:therapy; D009456:Neurofibromatosis 1 / Q000175:diagnosis*; D010102:Oxygen Inhalation Therapy; D010879:Piperazines / Q000627:therapeutic use; D011687:Purines / Q000627:therapeutic use; D012008:Recurrence; D000068677:Sildenafil Citrate; D013148:Spironolactone / Q000627:therapeutic use; D013450:Sulfones / Q000627:therapeutic use; D013575:Syncope / Q000209:etiology; D014665:Vasodilator Agents / Q000627:therapeutic use
D000925:Anticoagulants; D004232:Diuretics; D010879:Piperazines; D011687:Purines; D013450:Sulfones; D014665:Vasodilator Agents; D013148:Spironolactone; D005665:Furosemide; D000068677:Sildenafil Citrate