EPP and Quality of Life

Psychological impact of reactions

During a phototoxic reaction EPP patients are in a state of physical and mental distress. There is no way to effectively relieve an EPP reaction, patients must simply bear it until it dissipates. They frequently express irritability, depression, nausea, and being unable to sleep during a reaction. During the flare up, most will seek a cold, dark refuge – such as a basement – to avoid any further aggravation of symptoms. Young patients, often unable to vocalise their ordeal, cry uncontrollably, causing great anxiety for parents and carers. At the height of the reaction patients show a change in personality and, according to one paper “[t]he patient becomes nervous, tense, aggressive, even feeling detached from the surroundings and harbouring suicidal thoughts or have an irrational fear of death”.

Psychological and quality of life impact

Erythropoietic protoporphyria has a significant impact upon quality of life. In addition to the psychological impact during an anaphylactoid phototoxic reaction (see above), patients report multiple effects of the disorder including:

Anxiety, often reported in response to the weather or an upcoming social or professional situation where sun avoidance may be impossible. Patients will become anxious that they may inadvertently experience a reaction due to a lack of control over their circumstances or environment. Younger patients, keen to avoid social isolation, will also attempt to hide their condition, causing significant anxiety.

Frustration, anger and distress, resulting from frequent situations of disbelief or a lack of understanding towards their condition, particularly from medical professionals.

The impact upon relationships with family and friends. The lack of understanding of even close family members or spouses can be a source of great distress, with 58% and 40% of patients in one study reporting the disease influenced relations with their family and friends. Patients report choosing not to have children or having adopted families to avoid transmitting EPP to the next generation. While the risk of direct transfer of the genetic traits are low (2-3%), patients diagnosed prior to the availability of full genetic testing were often advised of a significant transmission risk which was to be considered during family planning, adding to the burden of the disease.

Social isolation and depression. Due to the need to avoid light sources and exposure, many patients avoid external social contact to prevent potential reactions, particularly during spring and summer months. This leads to isolation and may lead to clinical depression.

A significant impact upon quality of life. The majority of patients have reported that EPP limits “simple everyday activities”, limiting joy and optimism towards life. One cohort study showed that nearly half of all patients reported that EPP “significantly influenced” their profession, while others have reported that photo-related disorders – including EPP – lead to a significantly higher rate of unemployment.

It was first reported in 1987 that standard questionnaires used in medicine to evaluate quality of life impact did not reveal the true effects of EPP, which was elucidated after interviews with patients (some of whom were discussing their condition for the first time). A subsequent EPP-specific quality of life questionnaire has been developed and proposed to measure the unique impact of the condition.

Last updated on May 27, 2016