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Showing posts from September, 2016

Do you know about EPP or XLP

Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)
Erythropoietic Protoporphyria (EPP) or Protoporphyria Erythropoietic Protoporphyria is characterized by abnormally elevated levels of protoporphyrin IX in erythrocytes (red blood cells) and plasma (the fluid portion of circulating blood), and by sensitivity to visible light that is usually noticed in early childhood and occurs throughout life.  EPP can result either from mutations of the ferrochelatase gene (FECH), or less commonly the delta-aminolevulinic acid synthase-2 gene (ALAS2).  When EPP is due to an ALAS2 mutation it is termed X-linked protoporphyria (XLP), because that gene is found on the X chromosome.  Protoporphyrin accumulates first in the bone marrow in EPP, and then in red blood cells, plasma and sometimes the liver. Protoporphyrin is excreted by the liver into the bile, after which it enters the intestine and is excreted in the feces. It is not soluble in water so is not excreted in the urine.  EPP …

Hereditary Coproporphyria. (HCP) Porphyria Expert Dr. Bissell

Hereditary Coproporphyria. AuthorsBissell DMWang BLai J. Editors In: Pagon RAAdam MPArdinger HHWallace SEAmemiya ABean LJHBird TDFong CTMefford HCSmith RJHStephens K, editors.  Source GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2012 Dec 13 [updated 2015 Jul 1].
Excerpt CLINICAL CHARACTERISTICS:Hereditary coproporphyria (HCP) is an acute (hepatic) porphyria in which the acute symptoms are neurovisceral and occur in discrete episodes. Attacks typically start in the abdomen with low-grade pain that slowly increases over a period of days (not hours) with nausea progressing to vomiting. In some individuals, the pain is predominantly in the back or extremities. When an acute attack is untreated, a motor neuropathy may develop over a period of days or a few weeks. The neuropathy first appears as weakness proximally in the arms and legs, then progresses distally to involve the hands and feet. Some individuals experience respirato…

PCT- Clinical Presentations

Porphyria cutanea tarda (PCT) is a term encompassing a group of acquired and familial disorders in which activity of the heme synthetic enzyme uroporphyrinogen decarboxylase (UROD) is deficient.Approximately 80% of all cases of porphyria cutanea tarda are acquired; 20% are familial, although the ratio may vary among different geographic regions and ethnic groups. Familial porphyria cutanea tarda most often arises from autosomal dominant inheritance of a single mutation of the UROD gene. Human UROD has been mapped to band 1p34.To date, 121 UROD mutations are listed by the Human Genome Mutation Database. A rare recessive familial type of porphyria cutanea tarda in which both UROD alleles are mutated is termed hepatoerythropoietic porphyria.Familial porphyria cutanea tarda without detectable UROD mutations has been reported. The common acquired form, sporadic porphyria cutanea tarda, occurs in individuals whose UROD DNA sequences are normal, but who may have other genetically determined su…

Lina Rebeiz and her personal journey with AIP

  My porphyria symptoms started right after orientation of my freshman year of college. The pain started in my lower back and quickly moved to my abdomen, and within an hour I was curled up in my bed crying. My initial thought was that this must be food poisoning, and that my Resident Advisor's suggestion to go to the ER was ridiculous. When I woke up the next day, the pain had doubled and I began vomiting uncontrollably. I went directly to our student health and wellness center, where I was given Urinary Tract Infection (UTI) medication and advised to visit the ER if my symptoms worsened. As the pain continued to intensify, I could not believe that this sensation was humanly possible. As soon as I thought the pain had reached its absolute limit, it would double. I finally decided to go to the ER, where I waited hours before being seen, only to be told that I should hydrate and relax for my ‘UTI’ to go away. Nevertheless, because of the intensity of my pain, I was admitted to the h…

Learning about Porphyria

Learning about PorphyriaTo view entire link:
What is porphyria?What are the signs and symptoms of porphyria?How is porphyria diagnosed?How is porphyria treated?What do we know about porphyria and heredity?What triggers a porphyria attack?How is porphyria classified?What are the cutaneous porphyrias?What are the acute poyphyrias?NHGRI Clinical Research in PorphyriaAdditional Resources for PorphyriaOnline Resources for Specific Porphyrias What is porphyria? The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process. Heme is a chemical compound that contains iron and gives blood its red color. The essential functions of heme depend on its ability to bind oxygen. Heme is incorporated into hemoglobin, a protein that enables red blood cells to carry oxygen from the lungs to all parts of the body. Heme also plays a role in the liver where it assists in breaking down chemical…