PAH Caused by Undiagnosed Systemic Sclerosis in Case Study

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by Steve Bryson, PhD |

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A case report found a patient’s pulmonary arterial hypertension (PAH) was caused by an undiagnosed case of the autoimmune disorder systemic sclerosis (SSc), highlighting the need for early and thorough diagnostic workups, researchers say.

The 77-year-old woman’s PAH was also worsened by other conditions, including lung disease, sleep apnea, heart failure, and chronic anemia, which made the diagnosis difficult. 

With multiple possible causes for PAH, researchers recommend that attention be paid to undiagnosed autoimmune disorders that may play a role in the disease’s development. 

“Development of severe pulmonary hypertension and [lung disease] leading to diagnosis of SSc in this case is unusual,” the researchers wrote in the article “Multifactorial Pulmonary Hypertension in Systemic Sclerosis,” which was published in the Cureus Journal of Medical Science

PAH is a chronic and progressive disease characterized by high blood pressure in the pulmonary arteries — the blood vessels that supply blood from the heart to the lungs.

The disease can have many potential causes, including heart abnormalities, viral infections, liver disease, connective tissue disorders such as scleroderma and lupus, and the use of certain medications, or it can be inherited. PAH without an easily identifiable cause is called idiopathic PAH.

When multiple possible causes occur at the same time, diagnosis and treatment can be challenging, as illustrated by the case of the 77-year-old female patient in the study reported by researchers at the University of Illinois College of Medicine

The patient complained of worsening shortness of breath upon physical exertion for the past nine months, which interfered with her daily activities. 

She had a medical history of genetic-related anemia (low red blood cells) and a type of inflammatory bowel disease known as Crohn’s disease, and was being treated for both conditions. She reported no history of blood clots, or heart or liver disease, and no family history of connective tissue disorders. 

An initial examination found low blood oxygen levels and abnormal rattling sounds in the lungs. The patient was thus given oxygen supplementation. 

Blood tests confirmed the presence of antibodies associated with autoimmune disease, which led to a diagnosis of SSc — an autoimmune disease characterized by the buildup of scar tissue in the skin and several internal organs, including the arteries. 

Functional and imaging tests showed signs of lung disease. The patient was also diagnosed and treated for sleep apnea, in which pauses in breathing occur during sleep. 

Over the next few months, her shortness of breath during physical activity worsened, which was confirmed by a decline in lung function. A sonogram of the heart (echocardiogram) showed high blood pressure in the pulmonary arteries.

The patient was then diagnosed with PAH in a setting of SSc along with lung disease, sleep apnea, heart failure, and chronic anemia. 

She declined rapidly over the next three months and was treated for possible pneumonia. She continued to show low blood oxygen levels, and her pulmonary blood pressure had increased. 

“With continued increment in oxygen requirement, [lung function tests] and CT findings were out of proportion to the degree of pulmonary hypertension,” the team wrote. 

The patient started treatment with increasing doses of the blood pressure medication nifedipine (sold under several brand names).

Following a meeting with specialists in lung disease, cardiology, and rheumatology, she was started on a triple combination of PAH therapies which included the blood vessel dilators Uptravi (selexipag) and Opsumit (macitentan), both marketed by Actelion, along with Adcirca (tadalafil, marketed by United Therapeutics). 

She also continued treatment with nifedipine, immunosuppressant steroids, and mycophenolate to treat SSc, as well as torsemide to treat fluid overload due to heart failure and high blood pressure.

After six months, her pulmonary blood pressure decreased, which was consistent with mild improvements. Her treatment regimen continued to be optimized. 

“Despite evident causes, due consideration should be given to undiagnosed autoimmune disorders playing a role in causing PAH,” the researchers wrote, noting that “management in such cases remains a multidisciplinary approach.”

A Conversation With Rare Disease Advocates