People with porphyria cutanea tarda (PCT) report a fairly average health-related quality of life (HRQoL) overall, but they seem to have poorer general health and more issues with work and other activities due to emotional problems than the general population in the U.S., a study in patients in Norway found.
The research also points to lower HRQoL scores in patients with more symptoms or who have not yet started treatment, suggesting the importance of early treatment and of regular follow-up to prevent relapses.
Findings were detailed in the study “Health-related quality of life in porphyria cutanea tarda: a cross-sectional registry based study,” published in the journal Health and Quality of Life Outcomes.
PCT, the most common form of porphyria, is a rare genetic disorder caused by deficiency in the uroporphyrinogen decarboxylase (UROD) enzyme, leading to the buildup of porphyrins in the skin that make individuals extremely sensitive to sunlight.
PCT may be caused by mutations in the UROD gene (inherited PCT) or by other susceptibility factors (acquired PCT), like excessive iron concentrations in the liver, HIV infection, alcohol consumption, and tobacco use. Use of estrogens, like those in contraceptive pills, also seems to predispose patients to the condition.
The disease manifests as skin blisters, changes in skin tone, hair overgrowth, and small bumps in the skin, which mostly affect the hands.
Symptoms of PCT may significantly influence patients’ ability to conduct daily activities. As a “visible” condition, PCT may also have a psychological impact, but to date only one study — including only 12 patients likely in remission — assessed quality of life for PCT patients.
They were diagnosed from December 2013 to December 2015, and their median age was 60 (range 24–79). A similar number of men and women participated in the study.
They were asked to fill out the SF-12 questionnaire, which measures HRQoL in eight domains and also allows researchers to draw conclusions regarding physical and mental functioning. They also reported the type and location of symptoms considered related to PCT.
Twenty-six patients had a mutation in the UROD gene and were deemed as having familial PCT. Another 32 patients, who also underwent gene sequencing, had no disease-associated mutation and were classified as having sporadic PCT.
Blisters were the most commonly reported symptom (95%), followed by fragile skin (84%), and abnormal hair growth (36%). These happened mostly in the arms and hands (98%), followed by the face (57%), legs and feet (48%), and the upper body (31%).
Interestingly, itching was reported by 59% of patients, though this symptom is rarely included when describing this disease. “[P]hysicians need to address this in this patient group,” the researchers wrote.
Some patients also reported non-skin symptoms such as fatigue, restless legs, decreased appetite, and stomach pain.
At the time of the analysis, about one-third of these patients had already received treatment, including 18 with phlebotomy alone — a procedure in which blood is removed to lower iron and porphyrin levels — and seven with phlebotomy plus medication.
Results showed that overall physical and mental functioning scores of PCT patients were similar to those of the general population in the U.S. The use of “US-derived scoring algorithms has been demonstrated in large general population samples from nine countries, including Norway,” the researchers noted.
But scores of general health and of issues with work and other activities due to emotional problems were lower (worse) in patients compared to the norm.
Women sought medical care for their PCT symptoms earlier than men, and reported more symptoms and lower quality of life compared to men, the researchers found. Six of the eight domains assessed with SF-12 had lower scores in women, though only social functioning reached a statistically significant difference.
HRQoL scores did not differ significantly between sporadic and familial PCT, smokers and non-smokers, or according to alcohol intake. Physical functioning was significantly better among those who already given treatment.
Having more PCT symptoms was significantly associated with worse physical and mental functioning in women, and with worse physical functioning and general health in men.
Levels of urinary uroporphyrin — a biomarker of disease activity — were lower in men, but were not significantly associated with more symptoms.
This study suggests that while the overall population of PCT patients does not have a poorer quality of life compared to the general population, some patients have lower scores in some quality of life domains. Physicians should start treating their patients as soon as possible after diagnosis, and monitor them closely to avoid relapses that might reduce quality of life, the investigators said.
“PCT is a rare disease, and many physicians will have little or no experience with the best ways to treat and follow up such patients,” they wrote. “This highlights the need for the development of best-practice guidelines to facilitate good patient care.”
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