Patient With Genetic Disease and Pulmonary Hypertension Responds to Treatment Combination

A woman with the genetic disease neurofibromatosis type 1 (NF1) who developed pulmonary hypertension (PH) was successfully treated with a combination of increased pulmonary arterial hypertension (PAH)-specific therapy and surgery that created a hole between her two heart chambers.

The study, “Atrial septostomy and disease targeting therapy in pulmonary hypertension secondary to neurofibromatosis,” was published in the journal BMC Pulmonary Medicine.

NF1 is caused by mutations in the genetic coding of the protein neurofibromin. Since the protein helps suppress tumor activity, people with the condition develop tumors in nerves and other parts of the body.

The factor also protects other cell processes, so additional features of the disease include bone abnormalities, some learning difficulties, and hyperpigmentation — or deeper than normal colors — in the eyes, also known as café-au-lait spots.

An uncommon consequence of NF1 is precapillary pulmonary hypertension.

Researchers at Aristotle University of Thessaloniki in Greece encountered a 57-year-old patient who sought care for the condition when she experienced worsening shortness of breath and felt faint.

Diagnosed with pulmonary hypertension three years earlier, she was already receiving oxygen and anticoagulant treatment, along with a combination of the PAH drugs Letairis (ambrisentan) and Adcirca (tadalafil).

Doctors had ruled out the possibility that her lung hypertension was the result of blood clots in the lung, lung fibrosis or other issues.

Since the woman’s health was deteriorating, and her hospital was unable to obtain reimbursement for prescribing Remodulin (treprostinil), the team decided to try surgery.

The procedure, atrial septostomy, involved creating a hole between the chambers of her heart, allowing blood to be shunted from the right to the left side. The surgery is supposed to lower the higher pressure in the right side of the heart and improve blood flow to the lungs.

The surgery went well, with the woman returning home after a few days. But two months later she was showing only a slight improvement in her symptoms, and she was able to obtain access to Remodulin.

During the two-year treatment follow-up, her health continuously improved, with her heart regaining some of its previous function.

“This report demonstrates the successful management of a patient with PH secondary to NF1 with atrial septostomy in conjunction with PAH targeted therapy,” the team said. The future is likely to bring “optimal therapy and prognosis of neurofibromatosis-associated PH, especially in the modern era of targeted PAH treatment,” it added.