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…
Genetic testing can be used by clinicians to look for changes in your DNA that could cause a genetic disorder such as porphyria. Genetics of porphyria Porphyria is a group of distinct diseases, each with a different genetic mutation. Each type of porphyria is related to a given error…
Doctors can use various diagnostic tests to determine whether a patient’s symptoms are caused by porphyria or another disorder. Here is some information about the most common tests and how test results can help diagnose porphyria. What is porphyria? Porphyria is a group of eight different disorders all related to…
While most cases of porphyria manifest later in life, the disease sometimes affects infants and children. Following is information about the types of porphyria in children, how doctors diagnose them, and ways they can be treated. What is porphyria? Porphyria is a group of related genetic disorders that involve…
If you have porphyria, the thought of potentially passing the disease on to your children can be stressful. There are options to limit the risks, however, and help is available for family planning. How do children inherit porphyria? Mutations in different genes may cause porphyria. Depending on the gene,…
Treating porphyria depends on the severity of symptoms and whether the disease is acute or cutaneous. However, physicians may not be familiar enough with the disorder to respond adequately in a medical emergency. Medical alert cards can be of paramount importance in such instances. What is…
Traveling may put you at an increased risk if you have porphyria, depending on the type of disease you have. Here is some information that may help you to have a successful, safe trip. What is porphyria? Porphyria refers to a group of disorders in which…
Everyone needs to take some form of medication at some point. People with porphyria, however, need to be extra careful about which medications they take. Porphyria is a group of rare genetic disorders that lead to problems with the synthesis of a protein called heme, which is an…
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