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Porphyria: Where's the good info?

Dear Alice,

Where can I find good information on porphyria?

Dear Reader,

Porphyria actually refers to a group of disorders, either inherited genetically or acquired through environmental triggers, that all share the same basic concern: a defect that affects the production of heme. Heme is the iron-containing component of hemoglobin, the oxygen-carrying element of red blood cells. When heme is being created, other compounds, such as porphyrins are are also created. However, people with porphyria have low levels of the enzymes needed for heme production, which can result in higher levels of porphyrin, causing a build-up. The prevalence rates of porphyria are unknown and vary among geographic locations. What is known, however, is that there are two types of porphyria: acute and cutaneous. While these two types do share some symptoms, they also have symptoms specific to their type. Read on to learn more! 

Acute porphyria affects the nervous system. While symptoms of acute porphyria can be severe, they don’t tend to last very long. Some of these symptoms can include:

  • Pain in the abdomen, chest, back, and limbs
  • Vomiting
  • Heart palpitations
  • High blood pressure
  • Experiencing constipation or diarrhea
  • Inability to fully empty bladder
  • Muscle pain, numbness, and weakness
  • Experiencing breathing problems
  • Seizures
  • Personality or mental changes including hallucinations, paranoia, anxiety, or restlessness
  • Red or brown urine (due to the presence of porphyrins)

Adapted from Mayo Clinic.

For those who have cutaneous porphyria, symptoms primarily affect the skin rather than your nervous system and typically occur as a result of sun exposure. Along with sensitivity to sunlight, and even potentially artificial light, symptoms of cutaneous porphyria also include:

  • Slow healing blisters
  • Scarring, swelling, and skin redness
  • Thin, fragile skin that changes in skin color (pigmentation)
  • Hair growth in affected areas
  • Itching
  • Red or brown urine

Adapted from Mayo Clinic.

In terms of diagnosing the disorder, different tests may be involved depending on the type of porphyria your medical provider believes you to have. These tests can include taking urine, blood, and stool samples. Additionally, some health care providers may also recommend genetic testing. While there is no cure for porphyria, there are treatments available that can ease the discomfort of any symptoms.

In the case of acute porphyria, medication may be prescribed for pain, as well as intravenous fluids and sugars to help maintain a healthy intake of carbs. Hemin injections may also be used to limit porphyrin production in the body. Furthermore, in 2019 the U.S. Food and Drug Administration approved givosiran (brand name known as Givlaari), which is a monthly injection that reduces the number of porphyria attacks an individual has. Moreover, although rare, if symptoms of an acute case are severe enough, a liver transplant may be recommended. While this procedure won't fully cure the disorder, it will help stop recurrent attacks because porphyrins are primarily produced by the liver in people with acute porphyria. When it comes to cutaneous porphyria, depending on the specific type, treatment may include therapeutic phlebotomy treatments (to remove or limit porphyrins in the body), medications such as hydroxychloroquine or chloroquine, or taking certain vitamins and mineral supplements, such as vitamin D, may be recommended as well.

For either type of porphyria, avoiding certain triggers may help decrease the symptoms, which can include avoiding certain drugs, such as barbiturates or certain hormonal medications, tranquilizers, and sedatives. Additionally, limiting any smoking or use of alcohol, minimizing sun exposure, reducing emotional distress, and avoiding low-calorie diets or fasting can help decrease symptoms associated with porphyria, as well as taking care of illnesses and treating infections.

If you’d like learn more about this condition, you’re in luck — there are several reliable sources you can check out:

Hope this helps!

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Last updated Jul 22, 2022
Originally published Jan 23, 2004

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