If you are living with porphyria, shoshin may be able to change the way in which you view your life and your disease. What is shoshin? Shoshin is an idea that comes from Zen Buddhism and means “beginner’s mind.” It is a concept of keeping your mind open…
Regular dental checkups are an important part of your health and wellness. If you have porphyria, however, checkups may need to be more frequent than usual and certain risks can accompany a dental visit. Here is information about the importance of visiting your dentist, and…
People with rare diseases may well be concerned about the safety of vaccines, especially those newly developed against COVID-19. Here is some information about vaccines, and risks associated with their use in people with porphyria. What is Porphyria? Porphyria is a group of diseases related to the production of heme.
Porphyria is a group of rare diseases related to the production of a molecule called heme. Each type of porphyria is associated with a different mutation, affecting an enzyme in the metabolic pathway of heme production. As a result, high levels of heme precursors called porphyrins, accumulate in different parts…
Porphyria is a family of metabolic disorders largely caused by mutations in the genes that regulate the body’s production of a molecule called heme. Your cells are unable to change compounds called porphyrins or porphyrin precursors into heme. Depending on the type of porphyria you have, your liver…
People with certain types of porphyria may have problems with their liver. The following information may help you understand the link between porphyria and liver damage, the problems the disease can cause, and how doctors may treat them. How porphyria involves the liver Porphyria is a group of related genetic…
An estimated 10 to 20% of people with acute porphyria experience seizures, which can be life-changing and lead to many complications. What is porphyria? Porphyria is a group of genetic disorders that all result from the dysfunction of the metabolic pathway that produces heme. Heme is an integral part…
If you have one of the acute types of porphyria you may have experienced acute porphyria attacks. These attacks usually consist of pain in the abdomen, which may spread into the back and thighs. They also may involve nausea, vomiting, constipation, confusion, and disorientation. Severe attacks may require…
Porphyria refers to a group of related disorders caused by a disruption in one of the steps involved in creating a protein called heme. Heme is an integral part of hemoglobin, the molecule that carries oxygen inside red blood cells. There are eight main types of porphyria. The…
Porphyria is the name given to a set of rare genetic disorders that can affect the nervous system (acute prophyria), the skin (cutaneous), or both. Genetic counseling can help you learn more about your disease type, and help to guide you in understanding how the disease might affect your life…
Get regular updates to your inbox.