Monday, October 23, 2017

What is PCT and how do I manage it?

Porphyria cutanea tarda (PCT) is a form of porphyria that primarily affects the skin. People affected by this condition generally experience "photosensitivity," which causes painful, blistering lesions to develop on sun-exposed areas of the skin (i.e. the hands and face). Skin in these areas may also be particularly fragile with blistering and/or peeling after minor trauma. In some cases, increased hair growth as well as darkening and thickening of the affected skin may occur. Liver abnormalities may develop in some people with the condition and PCT, in general, is associated with an increased risk of liver cirrhosis and liver cancer.[1][2] In most cases, PCT is a complex or multifactorial condition that is likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. For example, factors such as excess iron, alcohol, estrogens, smoking, chronic hepatitis C, HIV and mutations in the HFE gene (which is associated with the disease hemochromatosis) can all contribute to the development of PCT.[3][1] Less commonly, PCT can run in families (called familial PCT). Familial PCT is caused by changes (mutations) in the UROD gene and is inheritedin an autosomal dominant manner.[4][1] Treatment may include regular phlebotomies (removing a prescribed amount of blood from a vein), certain medications, and/or removal of factors that may trigger the disease.[1][2]
Last updated: 3/8/2016

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
Signs and SymptomsApproximate number of patients (when available)Help
Abnormal blistering of the skinVery frequent 
(present in 80%-99% of cases)
Cutaneous photosensitivityVery frequent 
(present in 80%-99% of cases)
ErythemaVery frequent 
(present in 80%-99% of cases)
Hyperpigmentation of the skinVery frequent 
(present in 80%-99% of cases)
Hypopigmented skin patchesVery frequent 
(present in 80%-99% of cases)
Skin rashVery frequent 
(present in 80%-99% of cases)
Skin vesicleVery frequent 
(present in 80%-99% of cases)
Thin skinVery frequent 
(present in 80%-99% of cases)
Atypical scarring of skinOccasional 
(present in 5%-29% of cases)
Cerebral palsyOccasional 
(present in 5%-29% of cases)
 
Last updated: 10/1/2017

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.  
  • The American Porphyria Foundation offers a document that includes information about porphyria, types, testing, and treatment with Panhematin®.  Click the "document" link above to view these guidelines.

    Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

    Clinical Research Resources

    • ClinicalTrials.gov lists trials that are studying or have studied Porphyria cutanea tarda. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies. 

      Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

      Patient Registry

      • The Porphyrias Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Porphyrias Consortium has a registry for patients who wish to be contacted about clinical research opportunities. 

        For more information on the registry see: http://rarediseasesnetwork.epi.usf.edu/registry/index.htm

      No comments:

      Post a Comment

      Judy Snyder Personal Story of AIP

      JUDY SNYDER TYPE OF PORPHYRIA Acute Intermittent Porphyria (AIP) It was early April 1997, and I was truly enjoying my job as the...