US Survey Reveals Patients Satisfied with Care, Quality of Life

Marisa Wexler MS avatar

by Marisa Wexler MS |

Share this article:

Share article via email
survey | Porphyria News | Illustration of surveyor and survey responders

Most people with porphyria who responded to a U.S.-based online survey report being generally satisfied with their treatment plan, and many are open to participating in clinical trials.

About two-thirds of the 70 surveyed patients said they are content with their quality of life, but just as many are pessimistic about the future, suggesting a need for additional support for this patient population.

The survey ran from April 8 to Aug. 14, with the goal of gaining a better understanding of the porphyria community. It was conducted by Porphyria News, in collaboration with BioNews Insights, the research arm of BioNews Services, which publishes this website.

“Though limited by the sheer number of responses in this ongoing survey, the results suggest that patients are pessimistic about their futures, despite not necessarily being unhappy with their treatment plan or quality of life,” Jacob Harney, PhD, research lead at BioNews Insights, said in a statement to Porphyria News.

“This suggests that there are issues of life and research expectations that need to be better understood and addressed to improve the lives of patients living with porphyria,” Harney added.

Recommended Reading

Telehealth ‘Helpful’ Alternative to In-person Care, Rare Disease Patients Say

Who answered the survey?

A total of 85 people in the U.S. completed the survey. Most of them — 70, or 82.35% — were people living with porphyria. Most of the remaining 15 respondents were either family/friends of a person with porphyria or were a caregiver for someone with porphyria.

Subsequent analysis focused only on people with porphyria. Among these 70 patients, 42 identified as female, 27 as male, and one as nonbinary or another gender. The mean age was 45.63 years and the mean time spent living with porphyria was 5.17 years. From the 70 patients who answered the survey, 62 (88.57%) were white.

In terms of education, most respondents held either a graduate/professional degree (30.43%) or a bachelor’s degree (36.23%), while 14.49% had an associate’s or trade school degree, and 13.04% had a high school diploma or GED (general educational development), based on 69 responses.

Nearly a third of the patients (31.43%) reported an income of more than $100,000, and more than one in four patients (27.15%) had an income of less than $30,000.

The majority of respondents had private insurance (64.29%), Medicare (18.57%), Medicaid (7.14%), or another form of insurance. Three patients reported having no health insurance.

How did porphyria affect these patients?

Among the 66 patients who specified their porphyria type, nearly half (45.45%) reported having erythropoietic protoporphyria, and approximately one in four (24.24%) claimed to have acute intermittent porphyria. Other reported porphyria types included variegate porphyria (13.64%), porphyria cutanea tarda (9.09%), congenital erythropoietic porphyria (3.03%), hereditary coproporphyria (3.03%), and ALAD porphyria (1.52%).

Half of the respondents stated some of their biological family members had also been diagnosed with porphyria.

Genetic testing, blood, urine, and/or stool tests all were commonly pointed out by participants as diagnostic tests for porphyria. Many patients had undergone more than one diagnostic test.

The most common symptom of porphyria — reported by 48 of the 70 patients — was photosensitivity, or an abnormal skin sensitivity to sunlight or other sources of bright light. Other commonly reported symptoms included fragile skin, generalized weakness, pain in the arms and legs, constipation, severe abdominal pain, and nausea.

Photosensitivity was rated as the symptom that had the biggest impact on patients’ lives by 37 of 67 (55.22%) respondents. Severe abdominal pain was also noted as the most impactful symptom by 16.42% of the respondents, and generalized weakness by 5.97% of the participants.

How were these patients being cared for?

All but six of the respondents said they were currently seeing a healthcare provider. Most patients (54.29%) reported being seen by general healthcare providers. Some also reported being followed by hematologists (blood specialists), dermatologists (skin specialists), and hepatologists (liver specialists).

Less than half (47.14%) of the respondents said they were being treated for porphyria. The most common treatments used by these 33 patients included Givlaari (givosiran) (33.33%), Panhematin (hemin for injection) (24.24%), and Scenesse (afamelanotide) (21.21%). Other treatments included glucose injections (12.12%), blood drawing (12.12%), and Plaquenil or hydroxychloroquine (6.06%).

Nearly three-quarters of the patients (72.06%) stated they had not been on any porphyria treatment in the past, based on 68 responses. Givlaari, Panhematin, and Scenesse were among the most common treatments used by patients who previously took and stopped taking medications for porphyria. Reasons for discontinuing treatment included cost and lack of effectiveness.

Three patients said they required the assistance of a device to help them breathe, and one had received a liver transplant.

About three out of four patients (77.14%) were taking additional medications not related to porphyria.

Some of the most common treatment side effects patients were currently experiencing included fatigue, headache, stomach pain, easy bruising or bleeding, nausea, and mood swings. The most bothersome side effects — as reported by 20 patients — included fatigue, suicidal ideations, rapid weight gain, and blurred vision.

Were patients satisfied with their quality of life and treatment plan?

Nearly two-thirds of the participants reported being satisfied with their quality of life: 45.72% were “somewhat satisfied,” while 17.14% were “extremely satisfied.” By contrast, 20% were “somewhat dissatisfied,” 8.57% were “extremely dissatisfied,” and 8.57% were neutral.

Additionally, most patients were satisfied with their treatment plan: out of 54 respondents, 18 (33.33%) were “extremely satisfied” and 20 (37.04%) were “somewhat satisfied.” Most of the remaining patients (25.93%) were neither satisfied nor dissatisfied. Two patients (3.7%) said they were “somewhat dissatisfied,” and none of the patients reported being “extremely dissatisfied.”

In accordance with the high rates of treatment satisfaction, most patients — 45 out of 53 responders, or 84.91% — said they were not currently considering changing any of their medications. Noted reasons for considering switching treatment included concerns over effectiveness and ease of administration.

The majority of patients — 56 out of 69, or 81.16% — said they were interested in participating in clinical trials.

Recommended Reading

Eurordis Survey: Healthcare Experience Worse for Rare Disease Patients

However, nearly two-thirds of the patients said they were pessimistic about the future: 32.86% were “somewhat pessimistic,” while 30% were “very pessimistic.” About one in five patients were optimistic about the future — 14.29% were “somewhat optimistic” and 7.14% were “very optimistic” — while 15.71% were neither optimistic nor pessimistic.

Overall, the results of this small survey highlight high levels of satisfaction with treatment and quality of life in the porphyria community. High rates of pessimism about the future, however, may point to a need for more support for people living with this disease.