Author Archives: Emily Malcolm, PhD

Hormonal Contraceptives and Porphyria

Porphyrias are a group of genetic disorders characterized by high levels of porphyrins in the blood and tissues, because of a failure to change porphyrins and porphyrin precursors into heme. There are several types of porphyria, each with different symptoms and disease progression.

Acute Porphyria Attacks

Porphyrias are a group of genetic disorders characterized by high levels of porphyrins in the blood and tissues. There are several types of porphyrias, each with different symptoms and disease progression. Patients with acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria are…

Porphyria and Menstruation

Porphyria refers to a group of genetic disorders characterized by high levels of porphyrins in the blood and tissues. Several types of porphyria exist, each with different symptoms and disease progression. Patients with acute porphyria can experience episodes of severe symptoms that…

Will My Child Inherit My Porphyria?

If you have a rare genetic disease like porphyria, you may be wondering whether your children could inherit the disease. Differing types of porphyria can have different inheritance patterns, and their disease-causing mutations can be found in differing genes. If you are planning to expand your family, you may want…

How Do Doctors Diagnose Porphyria?

Porphyria is a group of genetic disorders in which there are high levels of porphyrins in the blood and tissues. Each type of porphyria has different symptoms and disease progression. That’s why a series of exams and tests may be necessary to diagnose a patient with…

How May Porphyria Affect My Lifespan?

If you’ve been diagnosed with porphyria — one of a group of disorders characterized by very high levels of porphyrins in the blood and tissues — you may be wondering how the disease affects your lifespan. Several factors affect a person’s lifespan, including genetics, the environment, and one’s…

Going Out in the Sun When You Have Porphyria

Exposure to sunlight can affect people with cutaneous porphyrias (largely marked by fragility of sun-exposed skin), and two types of acute porphyrias — variegate porphyria, or hereditary coproporphyria. The severity of the reaction, however, differs among patients. Why is sun exposure a problem? In some kinds of…

Porphyria and Pregnancy

Diseases that are characterized by high levels of porphyrins in the blood, urine, and tissues, are grouped under the name porphyrias. It’s important to discuss with your doctor the risks of pregnancy with porphyria, and any potential harm that medications you are taking might cause the fetus. Can patients…

FAQs About Porphyria

Porphyria refers to a group of disorders in which affected individuals cannot make hemoglobin. Hemoglobin is the protein that binds oxygen in red blood cells. Due to this inability, porphyrins — chemicals that the body normally uses to make hemoglobin — build up in the body. Following are…