Friday, April 12, 2019

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)?

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)?

ADP is more severe than the other acute porphyrias and can present in childhood. It is an inherited genetic condition, but is extremely rare. Only ~10 cases have been reported worldwide and all of the reported cases have been males, in contrast to the other acute porphyrias where more women have symptoms. In ADP, the gene responsible is ALAD which produces the enzyme δ-aminolevulinic acid dehydratase. When this enzyme is working properly, porphyrins build up and can cause symptoms similar to those seen in AIP.

How is δ-Aminolevulinic Acid Dehydratase Porphyria diagnosed?

Biochemical testing means looking for “biomarkers” in the blood or urine. To diagnose ADP, measurements of porphobilinogen (PBG), aminolevulinic acid (ALA), and total porphyrins in the urine should be done. Also porphyrins in the blood should be measured. The level of PBG in the body can vary so the best time to take samples is during an acute attack (e.g. when someone is having abdominal pain, etc). Slight elevations in porphyrins are not diagnostic of ADP; the levels need to be very high.

What are treatments for δ-Aminolevulinic Acid Dehydratase Porphyria?

The treatments and preventive measures are the same as in AIP.

How is δ-Aminolevulinic Acid Dehydratase Porphyria Inherited?

ADP is an autosomal recessive condition. Autosomal means that the defect is not on the chromosomes that determine sex, and recessive means that both copies of the gene are mutated. The gene that causes ADP is called ALAD.

Mr. Cubas is very RARE with ADP!


Milton%20Cubas.jpgMEET MILTON CUBAS, APF Member and ALAD Porphyria (ADP) patient.
My name is Milton Eduardo Cubas and I am 29 years old. Sports and I physical activities with others are two of my favorite things. My current studies at Miami Dade College are to become a math teacher. I had my first porphyria attack in a very hot summer day of 2000 at a castle in Cartagena, Colombia named Castillo San Felipe de Barajas. I was with family members and I remember feeling fatigued while taking a tour of the castle. I drank a whole bottle of water after leaving. Once I got in a taxi I felt nausea. I felt tired. We stopped to eat something but I would vomit water until nothing would come out. I had gone to hospitals in Colombia and they couldn’t find anything. I remember feeling a lot of pain while looking for anyone to tell me what is going on. I had to cut my trip to Colombia short because we couldn’t find anyone to help me and my pain was getting worse. I went to Miami Children’s Hospital and my attack got better and the doctors still couldn’t find anything. I would have an attack every month or two for a year until a doctor named Elsa Vasconsuelos told me that I may have Porphyria. Soon after that, my dad found Dr. Anderson. I would take two or three trips to Galveston, Texas until he diagnosed me in February 2003 with aminolevulinic acid dehydratase-deficient porphyria, which is abbreviated as ADP. Through my teenage years, I had attacks nearly every month. Once I hit my 20’s the attacks spread out more. The longest I’ve spent without an attack is two and a half years but after that I had 3 attacks really close to each other that affected my neuropathy a lot. My last attack was mid-July of 2017. I get hematin every single Friday. I have tried spacing out the hematin to every 10 days or every 14 days but I would get an attack after that. During the attack, I would have to be hospitalized to get hematin for four days every day. I get heme in an infusion center. Some of my negative experiences are that some nurses don’t know how to administer the hematin the correct way when I’m hospitalized. The neuropathy has affected me every day from dressing myself to doing homework. I have trouble with extending my fingers that stops me from doing hand gestures. I have foot drop where I could lose my balance easily. It has forced me to try find anywhere where there is AC. I could last longer in the sun now but in the summer I can’t. There have been positive experiences, too. I have met a lot of wonderful people, nurses and doctors, who have helped me when I’m trying to get better. My Family has supported me and helped me whenever I couldn’t drive or when I was hospitalized. I want to become a Math teacher and I am studying really hard to graduate. I want to get my hands better. For the people who have Porphyria: Knowledge is Power. The more you know about Porphyria the stronger you will be. It is also important to participate in research and I am in the longitudinal study at UTMB.

Thursday, April 11, 2019

What is Variegate Porphyria (VP)?

What is Variegate Porphyria (VP)?

VP is an inherited genetic condition with similar clinical signs and symptoms as AIP, but  is more rare than AIP. VP is especially common in South African individuals of Dutch ancestry, where it has been estimated that 3 in 1,000 of the Caucasian population is affected. In VP, the gene responsible is PPOX which produces the enzyme coproporphyinogen oxidase, and without this enzyme working properly porphyrins build up and can cause symptoms similar to those seen in AIP. However the acute attacks can be milder in people with VP when compared to AIP. Patients with VP have the same slightly increased risk of liver cancer that AIP patients have. Unlike AIP, people with VP can also have blistering on their skin in response to sun exposure and the primary affected areas are on the back of the hands and face. The occurrence of blistering skin lesions are much more common in VP than in HCP and are not easily treated. The only effective preventive measure is use of protective clothing and avoidance of prolonged sun exposure. As in AIP, about 80-90% of patients with VP mutations will not develop symptoms.

How is Variegate Porphyria diagnosed?

There are two types of testing; biochemical, meaning looking for “biomarkers” in the blood or urine, and genetic, meaning looking at the gene we know causes the disease directly from a blood sample.
Biochemical: To diagnose VP, measurement of porphobilinogen (PBG), aminolevulinic acid (ALA), and total porphyrins in the urine should be done. Also porphyrins in the blood should be measured. The level of PBG in the body can vary so the best time to take samples is during an acute attack (e.g. when someone is having abdominal pain, etc.). Slight elevations in porphyrins are not diagnostic of VP; the levels need to be very high.
Genetic: A blood sample is used to look at a person’s genes and by doing this it is possible to see if their genes have changes that can cause disease, called mutations. VP is caused by mutations in the PPOX gene. Genetic testing is recommended for patients even if they have a biochemical diagnosis of VP.
If a patient has a mutation, their immediate family members should be tested for that same mutation as well.  This includes their parents, their siblings, and any children they may have. This will allow all family members to receive appropriate care and counseling even though 80-90% of people with a mutation will not have symptoms of VP.

What are treatments for Variegate Porphyria?

The treatments and preventive measures are the same as in AIP. In addition patients with blistering from sun exposure will need to protect themselves from sunlight by using sun protective clothing and avoiding prolonged sun exposure.

How is Variegate Porphyria Inherited?

VP is an autosomal dominant condition. Autosomal means that the defect is not on the chromosomes that determine sex, and dominant means that you only need to inherit one mutated gene to manifest the disease. The gene that causes HCP is called PPOX.
Genes are inherited randomly, so a parent has an equal chance of passing on either copies of each gene. Since most VP patients have one mutated copy and one normal copy, this means that each of their children will have a 50% chance of inheriting the mutated copy and 50% chance of inheriting the working copy.

Get one on one with Alie Campbell living with VP


My story is probably not much different than most. I was misdiagnosed most of my life, sent to psychologists because physicians just couldn't find a cause for my illness. Finally, after an incorrect Lupus diagnosis and a week of testing, I received my Variegate Porphyria diagnosis.
As a child growing up in Tampa, FL, I would constantly complain that the sun hurt my skin and my eyes but "children" were not supposed to wear sun glasses. Today I am rarely seen without them, day or night. I craved sweets and of course "children" should not eat too much sugar! I went to a boarding school most of my life and "they" had the same rules about sun protection and sweets the same as my parents. For reasons like this, I have always wanted to write a book "If you Can't See it...It Must Not Be Real" for all of "us" who are ill but it can't be seen, and so it must be in our "heads"!!
How might I be different? I have always known I am a survivor in life and have tried to maintain a positive attitude. At a very early age, I chose the "high road". I have pushed myself both mentally and physically to go beyond and not make my disease a focus in my life. I worked hard to receive a good education, eventually owned a successful cooperation, raised three step children and married twice. Now I ride and show horses (jumpers), work out daily and volunteer whenever I can (I have recently been helping women coming out of prison to assimilate back into the business world) and continue to look for areas and people to add to my life.
I have not had the best experiences with physicians. I was made worse by a physician claiming I would NEVER meet anyone else with my disease. He was like many physicians, who know very little about the disease and read only one chapter in medical school. Nonetheless, he was a self-proclaimed expert on porphyria with his own "treatments." I am alive today after surviving his dilation toxicity for three years and having a gland removed by his surgeon friend. This left me with permanent double vision at three and half feet out. Thus, reading is almost impossible for me other than my large computer screen.
Next, I broke most of my fingers and had another serious problem. I am going through implant surgery now because of mishandling by a dentist. Then I was left bleeding to death in "after surgery" care, overdosed with morphine, followed by a surgeon who was drunk and performed ovarian surgery incorrectly. I could go on, but I suffice to write this to let you know "we" must be our own advocates in health care. I still seek the good in all I meet and do believe there are wonderfully talented and gifted physicians, but my experiences have certainly caused me to be vigilant over my own care. As for porphyria, I thank God for Dr. Anderson, his colleagues and Desiree.
My attitude is to count my blessings, allow myself some few "moments" of self pity...pick myself up and move forward. We all have challenges in life and sometimes hurt so badly that it is hard to live another day--but we do. We need to share information and stories, support to each other and always keep our sense of humor. I try to look at what I have rather than what I don't have.
In the end it will always be our "attitudes" that drive our lives. As a very wise man long ago told me, "You have two choices in the morning when you start your day" for whatever reason, hearing him tell me on that day changed my life, and I say this to all of you hoping I can make the same difference. Good luck and God Bless!

Wednesday, April 10, 2019

Pakistan Ambassador Abdul Waheed Butt with CEP


Abdul%20Waheed%20Butt.jpgMy name is Abdul Waheed Butt. I lived in Pakistan I am facing skin problem name “Congenital Erythropoietic Porphyria (Gunther Disease) CEP. When I was born, I was completely normal like other children. When I was 2-months-old, my mother cut my hand nails there are starting water from it. When the nails water touch my face it becomes Water Blisters on my whole face. My parents checked me from so many Doctors in Pakistan, but they have no idea or treatment how to solve that problem. At-last, we found a skin specialist Dr. Ishfaq Ahmed who said that the disease name is CEP. He advised me to avoid sunlight and covered when I go out. The only treatment of this disease is to avoid sunlight. Then my parents covered me all the time for my safety as they can.
When I was 7-years-old the effect of the disease is gradually decreased and the Blisters which are appeared automatically are disappeared. But there are so many scars on my face and hands.
After that I am starting my study and completed my Graduation degree in Commerce. During my study I have facing so many problems from classmates, when they see me, they behave like that I am not a human or came from other planet.
After graduation I have done my computer course and using internet, I find skin Specialist Doctors in all over the world and send them my pictures and story to review my case. Approximately five years of regular struggle I have received a call of Miss Desiree Lyon from America. She tells me about the details of the disease and advise me to avoid sunlight as you can. Then my Story and pic is displayed on APF website and add my name in Facebook APF Group. In this group I make lots of friends who have CEP and EPP.
APF send me a doctor kit for my blood and urine test to clarify that my disease name after test the report result is CEP.
Now my age is 30 and I am working as Computer Clerk in Medical College in Pakistan. I have so many friends in Facebook it is so useful for all CEP members for discussed their problem and get a fair advised from each other’s. I will be sure that the treatment of the disease is discovered by the help of God and we all get the treatment soon.
God said that “There is no disease in the Earth without Cure”
And last, I would like to thank again the APF, Desiree Lyon and Amy Chapman who help me. Thank you so much.
Abdul Waheed Butt
House no CB 408, St no 16, Jhanda Chichi
Rawalpindi, Pakistan

What is Gunther Disease~ CEP

Información en español

Other Names:
Porphyria, congenital erythropoietic; CEP; Günther disease; See More
This disease is grouped under:

Congenital erythropoietic porphyria (CEP) is the rarest type of porphyria and is commonly seen in infancy.[1]  It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands.[2][3] Photosensitivity and infection may cause the loss of fingers and facial features.[1] Symptoms of CEP range from mild to severe and may include excessive hair growth throughout the body (hypertrichosis), reddish discoloration of the teeth, anemia, and reddish-colored urine.[4] In CEP, there is a defect in the synthesis of heme within the red blood cells of bone marrow.[3][4] This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors, which leads to the signs and symptoms.[3] Inheritance is autosomal recessive. It is caused by mutations in the UROS gene.[3] Treatment for CEP may include a bone marrow transplant and hematopoietic stem cell cord blood transplantation.[2][1] Blood transfusions or spleen removal may also reduce the amount of porphyrin produced by the bone marrow. Affected people must avoid sunlight exposure.[1]
Last updated: 3/22/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Showing 1-5 of 40 | 
Medical TermsOther Names
Learn More:
80%-99% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
more  ]
Abnormal circulating porphyrin concentration0010472 
Abnormal urinary color
Abnormal urinary colour
more  ]
Abnormality of the foot
Abnormal feet morphology
more  ]
Abnormality of the hand
Abnormal hands
more  ]
Showing 1-5 of 40 | 
Last updated: 4/1/2019

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

  • 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.

    If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
    If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
    You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

    Healthcare Resources

      Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
      Conditions with similar signs and symptoms from Orphanet
      Differential diagnosis can include hepatoerythropioetic porphyria (see this term).
      Visit the Orphanet disease page for more information.

      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

      • lists trials that are related to Congenital erythropoietic porphyria. Click on the link to go to to read descriptions of these studies. 

        Please note: Studies listed on the 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:

          Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

          Organizations Supporting this Disease

            Social Networking Websites

            • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

              Organizations Providing General Support

                Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

                Financial Resources

                • The HealthWell Foundation provides financial assistance for underinsured patients living with chronic and life-altering conditions. They offer help with drug copayments, deductibles, and health insurance premiums for patients with specific diseases. The disease fund status can change over time, so you may need to check back if funds are not currently available.

                  These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

                  Where to Start

                  • Genetics Home Reference (GHR) contains information on Congenital erythropoietic porphyria. This website is maintained by the National Library of Medicine.
                  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
                  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

                    In-Depth Information

                    • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
                    • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
                    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
                    • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital erythropoietic porphyria. Click on the link to view a sample search on this topic.

                      Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

                      1. Congenital Erythropoietic Porphyria (CEP). American Porphyria Foundation. 2016;
                      2. Congenital Erythropoietic Porphyria. British Skin Foundation
                      3. Porphyria, Congenital Erythropoietic. Online Mendelian Inheritance in Man (OMIM). 2016;
                      4. Hebel JL & Elston DM. Congenital Erythropoietic Porphyria. Medscape Reference. 2016;

                      What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)?

                      What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)? ADP is more severe than the other acute porphyrias and can present in childhoo...