Porphyria is a group of different disorders that cause the buildup of certain chemicals known as porphyrins in the body. Porphyrins are typically normal chemicals from the body. However, the buildup of these chemicals is not normal and is typically inherited. Porphyria can affect both the skin and the nervous system. Specific signs of the disease depend primarily upon which genes are considered abnormal and can be different in different patients. Treatment for the disease depends upon the type of Porphyria that is diagnosed. The disease is currently non-curable, although there are treatments and specific changes in lifestyle that can help to manage the symptoms. The two distinct types of Porphyria are Acute and Cutaneous. Acute Porphyria includes any form of the disease that causes symptoms to the nervous system. In many cases, patients with acute Porphyria also show symptoms in the skin. Cutaneous Porphyria includes all forms of the disease that cause symptoms to the skin. These symptoms typically occur as a result to direct sunlight. The symptoms of the disease depend upon the type of Porphyria in each patient.
In Acute Porphyria, symptoms may include constipation, abdominal pain, diarrhea, vomiting, pain in the extremities or the back, seizures, fever, hallucinations, paranoia, high blood pressure, disorientation and red colored urine. In Cutaneous Porphyria, symptoms often include painful areas and redness of the skin, swelling, itching, red colored urine and blisters.
Developing Acute Porphyria is rare before puberty. Many signs of Cutaneous Porphyria however, often begin to show up in patients as early as infancy. Because the symptoms of Porphyria are often similar to other, common illnesses, diagnosis is often difficult. Patients are urged to contact their doctor should severe abdominal pain be accompanied by high fever, vomiting, confusion and/or disorientation as these can be signs of Acute Porphyria. In addition, those noticing pain and redness on the skin, swelling of the skin and/or blisters that come up within minutes of being out in the sun should also consult their doctor, as these may be signs of Cutaneous Porphyria.
Research centers for hematology studies have been working to improve the treatments as well as the initial diagnosis of patients with Porphyria. Collaborative efforts around the globe have shown much progress in understanding and treating the disease. Scientists now believe that most forms of Porphyria are inherited. Defective genes from parents are typically what cause Porphyria in children.
Studies have also shown the existence of what is called Latent Porphyria. Patients with this disorder have the genetic defect that causes the disease, yet they show no signs or symptoms. Those with Latent Porphyria may go their entire lives and never know that they have the disease. Studies are also looking into whether certain environmental factors may trigger the development of the disease. These triggers can increase the production of heme, which in turn causes the signs and symptoms of Porphyria. Researchers have gained much headway in understanding the disease. Although a cure has not yet been found, treatments have improved vastly over the past few years.
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