Age: 23 years
Working diagnosis: Idiopathic pulmonary arterial hypertension
The patient was healthy at birth and through childhood without limitation, but at the age of 15 years she began to note exercise intolerance. Initially treated for asthma, she felt her symptoms progressed over the next several years. She developed Raynaud’s phenomenon, oligomenorrhea, weigh loss, and anorexia. Gradually, she became unable to carry on with her education.
At age 20 she was transferred to a tertiary center with increasing exertional dyspnea. She was found to be profoundly hypoxic despite supplemental oxygen. Her oxygen saturations were as low as 75% on room air and 88% on 8 liters of oxygen. She had an ischemic infarct of one of her toes. Physically, she was unable to transfer from bed to chair.
The diagnosis of idiopathic pulmonary artery hypertension (IPAH) was made by echocardiography and confirmed by catheterization. The prognosis and therapeutic options were discussed with her and her family, and she was considered for lung transplantation.
She comes from a large family but had no affected siblings.
She was started on intravenous iloprost (prostacyclin). Within a week she noted a clinical improvement and was able to walk around the hospital ward without assistance. An indwelling central line was placed, and she was taught to care for her infusions herself. She was discharged home.
Over the next year she had two separate infections of her indwelling line requiring removal, intravenous antibiotics, and line replacement. After the third line infection, she was switched from intravenous to subcutaneous epoprostenol through a pump. Her exercise capacity remained improved and stable.
At age 22, the patient was married. She felt well and her clinical condition was stable. She and her husband were anxious to try to start a family, with the support and encouragement of both their extended families. The patient said “it would make her life complete.” She did not want sterilization and hoped one day there might be a cure for her illness.
At an outpatient appointment pregnancy and contraception were discussed with her and her husband. She was told pregnancy would be a high-risk endeavor (see Case 75 ). The couple was using condoms as their contraceptive of choice. The merits and risks of various methods of contraception, including failure rates, were thoroughly discussed. A referral to a high-risk obstetrician/gynecologist was arranged to address further the patient’s questions.
Comments: The pathophysiology of PAH is poorly understood. An insult to the endothelium may occur (hormonal, mechanical, or other), resulting in a cascade of events characterized by vascular scarring, endothelial dysfunction, and intimal and medial smooth muscle proliferation. At least 10% to 15% of patients with PAH have the familial form, which has only recently been characterized. Some cases may be related to sporadic genetic defects.
Ischemic infarction of a systemic area (such as the patient’s toe in this case) is very uncommon in PAH. The most plausible cause would be a venous thromboembolism through a PFO or other intracardiac shunt.
This patient is very young, and the impact of this chronic condition on her life is bound to be great. An individual’s response to knowledge of chronic illness varies considerably. Involving close family members in discussions can help the patient come to terms with what the condition means in terms of planning the remainder of one’s life.
The benefits of various pharmacotherapies in IPAH have become more evident (see Case 81 ), and, in general, patients now have much to hope for, compared to those afflicted in previous decades.
Depending on cultural and/or religious circumstances, patients may feel tremendous pressure to have a child soon after marriage. Health care providers ought to try to recognize such pressure, acknowledge it and its source, and help the patient to reconcile this with their individual health concerns.
Because of this, it is imperative to have in-depth discussions about pregnancy risk and contraception early on in a patient’s care, even well before the opportunity for childbearing arrives.
Warfarin (target INR of 2–3)
Sildenafil 100 mg three times daily
Ondansetron 8 mg three times daily
Spironolactone 25 mg daily
Amiodarone 200 mg daily
Anticoagulation is recommended in patients with primary PAH.
Ondansetron in this patient was used for severe persistent nausea.
BP 85/55 mm Hg, HR 90 bpm, oxygen saturation 82% on room air and 88% on 8 L/min of supplemental oxygen
Height 156 cm, weight 46.9 kg, BSA 1.43 m 2
Surgical scars: None
Neck veins: JVP was elevated and showed prominent A-waves to about 5 cm above the sternal angle.
Lungs/chest: Chest was clear.
Heart: Regular rhythm with heart rate of 90 bpm, normal first heart sound and a loud pulmonary component to her second heart sound with no gallop or murmurs.
Abdomen: Abdominal exam revealed a smooth but tender liver edge 2 cm below the costal margin. No other masses or organs were palpable.
Extremities: Old ischemic infarct of her left fourth toe
Comments: The patient was markedly desaturated because of poor cardiac output as well as possible right-to-left shunting at the atrial level.
|Hemoglobin||13.4 g/dL (11.5–15.0)|
|MCV||80 fL (83–99)|
|Platelet count||260 × 10 9 /L (150–400)|
|Sodium||136 mmol/L (134–145)|
|Potassium||4.2 mmol/L (3.5–5.2)|
|Creatinine||0.7 mg/dL (0.6–1.2)|
|Blood urea nitrogen||5.9 mmol/L (2.5–6.5)|
Comments: Despite her low oxygen saturation, she had a low hemoglobin and hematocrit, with evidence of iron deficiency, which could contribute to her exercise intolerance.
Cardiothoracic ratio: 58%
Cardiomegaly, particularly right atrial enlargement, with a dilated main pulmonary artery and prominent central pulmonary arteries.
There is a diffuse pattern of interstitial thickening.
Note central line in the left subclavian vein (epoprostenol therapy via a pump).