Reflecting on Porphyria Awareness Week

According to a recent article, last week was Porphyria Awareness Week, a week dedicated to recognizing and uniting those who are a part of the porphyria community.

Porphyria

Porphyria is a group of disorders that are characterized by an accumulation of chemicals that are responsible for the production of porphyrin, which is necessary for the function of hemoglobin. High levels of porphyrin can lead to issues in the skin and nervous system.

There are two forms of this disorder: acute and cutaneous. The former affects the nervous system and the latter affects the skin. 

Symptoms:

Symptoms vary depending on the type of porphyria one has. Symptoms of acute porphyria include:

  • Pain in the abdomen, chest, legs, and back
  • Constipation
  • Diarrhea
  • Nausea
  • Vomiting
  • Pain, tingling, paralysis, numbness, and weakness in the muscles
  • Discolored urine
  • Mental changes
  • Breathing issues
  • Urination issues
  • Heart palpitations
  • High blood pressure
  • Seizures

Symptoms of cutaneous porphyria occur when people are exposed to sunlight, and they are:

  • Burning pain caused by exposure to sunlight or possibly artificial light
  • Sudden, painful swelling, and redness of the skin
  • Blisters on exposed skin
  • Itching
  • Excessive hair growth
  • Discolored urine
  • Fragile, thin skin when skin color changes

There are also complications that can result from this condition. Acute porphyria can be life-threatening if an attack is not treated properly. Long term complications include chronic pain, chronic kidney failure, and liver damage. Complications of cutaneous porphyria are permanent scarring and skin damage.

Cause:

Issues with the production of heme result in porphyria. In order to produce heme, eight enzymes are required. A lack of one of these enzymes results in both types of porphyria.

The majority of cases of this condition are inherited. They can be inherited in both an autosomal dominant and autosomal recessive patterns.

There are also risk factors that can trigger the genetic components of porphyria. Triggers can be exposure to sunlight, certain medications, recreational drugs, diets or fasting, smoking, physical or emotional stress, alcohol use, and menstrual hormones.

Treatments:

Treatment for this condition consists of avoiding triggers and managing symptoms. Avoiding triggers entails not using certain medications, avoiding recreational drugs and alcohol, not smoking, no fasting or dieting, taking hormones for menstrual issues, avoiding sun exposure, reducing emotional and physical stress, and treating any other illnesses quickly.

Treatment that is specific to the acute form of this condition consists of injections of hemin, sugar taken through mouth or IV, and hospitalization for severe symptoms.

Treatment for cutaneous porphyria may entail periodically drawing blood, hydroxychloroquine, and vitamin D supplements.

“Porphyria Together”

The week of April 2-9 was Porphyria Awareness Week. This year, the theme was “Porphyria Together,” which represents the united front of patients, caregivers, physicians, and pharmaceutical partners who are all working together to raise awareness about the disease. A major signifier of the week is the color purple, which can be worn to show one’s support for the disease. Porphyria actually comes from the Greek word for purple, “porphura,” which is how the color purple came to be an identifier for the disease.

Patients who are diagnosed with porphyria often struggle with aspects related to their diagnosis, how to manage their disease, and how best to treat their disease. Therefore, it is so important to spread awareness about the disease in order for there to be improvements in getting faster and more accurate diagnoses, pain management, access to treatments, and research funding.

Over the course of the week, people joined the effort by reading resources and sharing these resources within their communities, sharing their own stories about their experience with the disease, participating in social media hashtags, wearing purple on April 8 to honor those with porphyria, and more.

Global Porphyria Advocacy Coalition

Porphyria Awareness Week is an effort put forward by the Global Porphyria Advocacy Coalition (GPAC). This organization is an umbrella for national patient advocacy groups, and they are dedicated to creating and maintaining networks of support for those impacted by porphyria.

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