Acute Hepatic Porphyria
What is Acute Hepatic Porphyria?
Acute Hepatic Porphyria (AHP) is a group of rare genetic conditions characterized by an enzyme deficiency in the liver. The different subtypes of AHP from the most common to the least common are as follows:
- Acute Intermittent Porphyria (AIP)
- Variegate Porphyria (VP)
- Hereditary Coproporphyria (HCP)
- ALAD-deficiency Porphyria (ADP)
This disease summary will focus on AIP, which makes up about 80% of AHP cases.
Acute intermittent porphyria (AIP) is part of a group of disorders called Porphyria. Porphyria is caused by abnormalities in the production of heme, an important molecule needed by all of the body’s organs to function properly.
AIP is characterized by the quick onset of associated signs and symptoms that typically last for a short period of time. These episodes are called acute attacks. Importantly, acute attacks are often triggered by various environmental factors including certain drugs/medications, alcoholic beverages, hormonal factors, fasting, stress, and concurrent infections. Some people may continue to experience chronic symptoms long after an acute attack.
There is a wide range of signs and symptoms that may happen during an acute attack including severe abdominal pain, nausea, vomiting, rapid heart rate, and high blood pressure. Other findings during an attack include mental changes, seizures, as well as weakness and numbness that may progress to affect the muscles that control breathing. Acute attacks may be life-threatening if not treated promptly and appropriately. Long term complications of AIP include chronic kidney failure, a type of liver cancer called hepatocellular carcinoma, and high blood pressure.
Of note, the vast majority of people with AIP never have any symptoms and are said to have “latent” AIP. On the other hand, those with AIP that are currently or previously symptomatic are said to have “overt” AIP. Most people with overt AIP have one or a few attacks, but a proportion (3-8%) have recurrent attacks defined as more than 3 attacks per year. It is also more common for women with AIP to have symptoms than men. The underlying reasons as to why some people with AIP have symptoms while others do not are not completely understood.
Synonyms
- Acute Intermittent Porphyria
- Acute Hepatic Porphyria
- Acute Intermittent Porphyria
Acute Hepatic Porphyria (AHP) is a group of rare genetic conditions characterized by an enzyme deficiency in the liver. The different subtypes of AHP from the most common to the least common are as follows:
- Acute Intermittent Porphyria (AIP)
- Variegate Porphyria (VP)
- Hereditary Coproporphyria (HCP)
- ALAD-deficiency Porphyria (ADP)
This disease summary will focus on AIP, which makes up about 80% of AHP cases.
Acute intermittent porphyria (AIP) is part of a group of disorders called Porphyria. Porphyria is caused by abnormalities in the production of heme, an important molecule needed by all of the body’s organs to function properly.
AIP is characterized by the quick onset of associated signs and symptoms that typically last for a short period of time. These episodes are called acute attacks. Importantly, acute attacks are often triggered by various environmental factors including certain drugs/medications, alcoholic beverages, hormonal factors, fasting, stress, and concurrent infections. Some people may continue to experience chronic symptoms long after an acute attack.
There is a wide range of signs and symptoms that may happen during an acute attack including severe abdominal pain, nausea, vomiting, rapid heart rate, and high blood pressure. Other findings during an attack include mental changes, seizures, as well as weakness and numbness that may progress to affect the muscles that control breathing. Acute attacks may be life-threatening if not treated promptly and appropriately. Long term complications of AIP include chronic kidney failure, a type of liver cancer called hepatocellular carcinoma, and high blood pressure.
Of note, the vast majority of people with AIP never have any symptoms and are said to have “latent” AIP. On the other hand, those with AIP that are currently or previously symptomatic are said to have “overt” AIP. Most people with overt AIP have one or a few attacks, but a proportion (3-8%) have recurrent attacks defined as more than 3 attacks per year. It is also more common for women with AIP to have symptoms than men. The underlying reasons as to why some people with AIP have symptoms while others do not are not completely understood.
AIP is a rare disease with an estimated prevalence of 6 per 1 million people in the general population. It is known to be more common in people originating from Sweden as its population was separated from the larger European population in the past.
| Name | Abbreviation |
|---|---|
| Acute Intermittent Porphyria | AIP |
| Acute Hepatic Porphyria | AHP |
| Acute Intermittent Porphyria | Swedish Porphyria |
Everyone has two copies of the HMBS gene, which encodes for a protein (also called HMBS) needed to make heme, a molecule that is needed for all organs of the body to function normally. One major function of heme is to provide red blood cells the ability to transport oxygen throughout the body. People with AIP have a mutation (change) in the HMBS gene that decreases the protein HMBS’s activity, which leads to a buildup of the building blocks of heme called porphobilinogen (PBG) and aminolevulinic acid (ALA). An excess of PBG and ALA is toxic to the body and causes AIP symptoms.
AIP is inherited in an autosomal dominant pattern, meaning that a mutation in one copy of the HMBS gene is enough to cause the disease. Therefore, each child of a person with AIP has a 50% or 1 in 2 chance of inheriting AIP.
Onset of AIP symptoms are very rare before puberty and the typical age of onset is between age 18 and 40. Acute attacks are more common in women and may be accompanied by the following signs and symptoms:
-
Pain in the abdomen, arms, and legs
-
Constipation and/or diarrhea
-
Nausea and vomiting
-
Muscle numbness and weakness
-
Seizures
-
Rapid heart rate
-
High blood pressure
-
Fever
-
Mental changes (such as anxiety and hallucinations)
-
Insomnia (inability to sleep)
-
Red or reddish-brown urine when exposed to light (this is not a consistent finding, especially if the sample is fresh)
A diagnosis of AIP may be difficult to make due to its episodic nature and non-specific signs and symptoms. It is generally thought that AIP is underdiagnosed as many individuals have latent AIP. It is usually only identified when an individual has an acute attack.
-
Urine biochemical testing - concentrations of ALA and PBG
-
Molecular/genetic testing - harmful mutations in HMBS
Mount Sinai Hospital in New York City has a genetic testing laboratory that specializes in testing for the porphyrias.
Avoidance of known AIP triggers is the most important part of preventing AIP. An acute attack may require hospitalization if nausea and vomiting prevents sufficient caloric intake. Treatment of AIP often includes treatment of the symptoms, which include the following:
-
Stopping of medications that may trigger or worsen AIP (e.g. barbiturates, sulfonamides, and many others that can be found in this database: https://drugs-porphyria.org)
-
Strong pain medications
-
Carefully watching fluid balance and correcting electrolyte abnormalities through IV hydration
-
Glucose and carbohydrates by IV or mouth
-
Breathing support if needed
-
IV infusion of Human hemin (Panhematin) - some people may be regularly given Panhematin to prevent attacks
-
GIVLAARI (Givosiran) is a once a month injection FDA-approved in 2019 as a preventative treatment for the AHPs
-
Treating of concurrent infection or illness by medications that are safe for people with AIP
Liver transplantation may be an option for those with severe disease with frequent attacks and do not respond to other treatments. Liver transplant is considered a last resort treatment as it can come with other complications.
The monitoring of kidney function for people with latent or overt AIP is important as chronic kidney failure is a known long-term complication of this disease.
Mortality associated with attacks are now very rare in developed countries. However, AIP is particularly dangerous if it has not been diagnosed and the person has been given medications known to worsen attacks. Although symptoms usually resolve after an attack, some patients may have lingering pain and muscle weakness for months afterwards. Mental changes during an acute attack usually resolve by themselves.
Last updated 21 Oct 2024, 06:04 PM
21 Oct 2024, 06:04 PM
Buy adderall discreet overnight delivery www.norxmedshop.com
Last updated 12 Dec 2019, 03:22 AM
Last updated 7 May 2011, 05:30 PM
7 May 2011, 05:30 PM
To Cottondeb, Please respond; want to learn more about your chemical sensitivities and overexposure to toxins. Very important to my daughter's present condition...Thank you.
Last updated 18 Jan 2011, 11:08 PM
18 Jan 2011, 11:08 PM
Hi- I sent an email reply to the address that you provided and received this junk folder notice... This is an automatic reply to your email message to marketbase@peoplepc.com This email address is protected by PeoplePC spaminator. Your email message has been redirected a "Suspect Email" folder for marketbase@peoplepc.com. In order for your message to be moved to this recipient's Inbox, he or she must add your email address to a list of allowed senders. Click the link below to request that marketbase@peoplepc.com add you to this list. https://webmail.peoplepc.com/wam/addme?a=marketbase@peoplepc.com&id=1pFkxi38c3Nl3qO0
18 Jan 2011, 08:55 PM
Thanks so much for responding; my daughter (now 14) began exhibiting symptoms at age 10; diagnosed at 12 with AIP. FInallly diagnosed thru DNA testing (she's adopted). As of this time she cannot return to local schools and is currently being tutored (through school district). Though I have yet to prove it, something in the school buildings cause symptoms: first (at age 11) nausea, headache, vomiting, dizzy, numbness which quickly progressed to 2-5 min. fainting & 'seizure' type activity which then progressed to 5-20+ min. attacks of fainting and convulsions and potential life-threatening actvity (inability to breath) before the horrendous abdominal pain came on (usually upon regaining consiousness). LOTS of hospitalizations and 'nasty' references about 'faking it for attention.' I narrowed it down to a combination of the cleaning agent/white & smart board markers/ herbicide before the school shut down and refused to work with me. Her nausea would begin whenever she had to wait out on the sidewalk for any length of time in front of the school building to gain entry with the other kids. The white and smart board markers contain neurotoxins; she was must susceptible in math class (one of the classes she loved) where markers were used very heavily. Finally, the cleaning agent (a "green cleaner") seemed to trigger attacks, especially during the 'swine flu' scare when everything was washed over-frequently. We resorted to retaining legal help to get her the education opportunity she is entitled to. Would you be willing to correspond about your AIP expereince(s) for potential input to our book (esp. if you have any childhood health/AIP-related recollections (trying to raise awareness of this rare disorder and to tell the story of our tween's ordeal with this adult-onset disease? If so, you can email me at marketbase@peoplepc.com. FYI, a member to this forum helped us TREMENDOUSLY with a referral to an AIP specialist in your 'neck of the country' who literally saved our daugther's life and gave her/us hope for her future. In fact, we went to VA in October for an update 'check-in'. Our daughter is currently asymptomatic but hasn't seen the inside of a school room yet this year. She is about to start at a new school in another district and we are praying that this school will not trigger attacks. Our book is about 75% finished; to our knowledge, she is the only kid in U.S. with AIP that requires Panhematin treatments (she has a port in her chest to facilitate infusions) and can no longer play contact sports (her budding basketball love went kaput soon after she began the horrid attacks).
18 Jan 2011, 06:13 PM
Hi - It has often been difficult for me to associate a substance that causes an AIP attack because, for me, very rarely does an adverse reaction happen immediately after exposure. Usually by the time that I am very symptomatic a day or two has passed since the suspected exposure. Still having said that - I cannot be around some chemical substances without having an almost immediate reaction. I am responding to your inquiry because I was reminded once again last night that anything with acetone (my wife's application of nail polish / remover) will send me into a “porphy” state. I.e. belly pain, dizzy, numbness in my extremities… dc
Last updated 11 Mar 2009, 02:25 PM
11 Mar 2009, 02:25 PM
We are back in the hospital as well. Major episode yesterday. Weekly is not working here either so will talk to Dr. about your approach. Will anyboy ever run an efficient emergency department? My email is lyndawillis@msn.com. Will try to remember to join APF today. It keeps getting lost in everything else.
8 Mar 2009, 01:11 AM
Ditto on the neurologist and on the oxygen during the seizure. We are very fortunate in that we have a team of doctors including her neurologist and hematologist that have treated prophyria before. So it has become a lot easier. I don't even ask aboiut the oxygen anymore; I just put it on her even though her sat levels say she is fine. My daughter is getting heme every week to see if we can get her stabilized. She starts with abdominal pain, her abdomine gets the color of ripe plums (I know AIP is not supposed to have skin involvement but her's to quote her hematologist obviously did not read the textbook), the she will start having seizures. Her seizures last from 30 seconds to two minutes and are focal or temporal lobe. She takes Pamalor which has helped. Be very careful with the Ativan; it made my daughter worse after the first time they gave it to her. My daughter also sweats the porphyrins; bright purple red. The article is a great idea. If you want to collaborate or discuss, I would be happy to send Mira at the APF my contact information,
6 Mar 2009, 05:06 PM
Had another apnea/seizure episode again Sunday afternoon; back in hospital 'til late yesterday. She's now outpatient again for next few days to get 4 treatments of heme and we'll see where that takes us. I was encouraged to read Mira's story in APF newsletter--seems my daughter will have to also get 4 days heme treatment once a month for a while. This up and down stuff is almost too much for a 12-yr-old--or her 51 year old mother--to bear! The once a week glucose and/or heme just wasn't enough for her. But we had to try to see what might work. She's now up to seizing for 45 mins-2 hrs! When she started 18 months ago, it was 15-45 seconds each time. What a long road it has been. I would appreciate any input you might want to give to the APF article. I'm hoping that I can get a draft by the end of this week. Are you a member yet of APF? If so, consider also submitting your daughter's AIP story to the web site. Actually, that is where I learned so much information about this disorder. I've read every single one of the stories, and am amazed at what people have lived with--sometimes for their entire lives!! Do you have an email that I can send you a draft when it's done?
Last updated 3 Mar 2009, 04:13 AM
3 Mar 2009, 04:13 AM
I have read that sleep problems are part of AIP and my daughter certainly has them. Insomnia more than apnea but also a lack of adequate REM sleep. If your daughter's lips are turning gray, I would be concerned about whether she is developing a problem with the muscles that control respiration. Might pay to have a pulmonologist look at her. When my daughter seizes, she stops breathing. I don't know what is going on at the cellular or tissue level but I know that the longer the seizures go on, the harder it is for her to get back into reality. She doesn't know who she is or where she is and frequently does not recognize me. To your original question, we have not had a sleep study done. Did have a video EEG.
3 Mar 2009, 01:11 AM
I've been begging my daughter's pediatrician for well over a year to order a sleep study and am about to pay for one myself. While hospitalized in Oct '08 with bad seizures, her bedside monitor registered sleep apnea >64 seconds. Now she's seizing at school (twice in a week) and I think it's largely due to systemic oxygen depletion. Again, everyone thinks I'm a nut case. But navigating school stairs with a 30-50 lb backpack is too taxing, I think. Has anyone else out there with AIP had a sleep study done, perhaps?? Seems to me when her lips are gray, she can't get a breath and launches into seizure that oxygen in the arteries might be flowing, but what's happening at the celluar or tissue level? No data available re this issue...
Last updated 18 Feb 2009, 04:13 PM
18 Feb 2009, 04:13 PM
Our experience with testing was dismal and disheartening as well. We have not done genetic testing as the glucose and hemen treatments have worked. Tomorrow will be her first prophylactic dose of hemen to see if we can get her through her menstrual cycle without an episode.
18 Feb 2009, 03:44 AM
Our experience with testing of blood, urine, stool samples has been dismal. We finally went with genetic testing through Mt. Sinai genetic testing lab in NYC. 3 wks later, it was finally confirmed. The myriad of symptoms my daughter was experiencing was due to AIP. There are several forms of accute porphyria; Variegate Porphyria symptoms can include both neurovisceral and cutaneous potosensitivity (sunlight blisters/rash).
Last updated 11 Feb 2009, 04:23 PM
11 Feb 2009, 04:23 PM
There is a pediatric hematologist in the Washington DC area that has a solid background in treating porphyria. Her name is Dr. Eva Perdahl. She trained in Sweden where porphyria is much more common. She can be contacted through Children's Hospital in the District of Columbia. I highly recommend her. It took almost 3 years to diagnose my daughter. We all know the story. We now have a treatment regime and a plan.
| Title | Date | Link |
|---|---|---|
| Alnylam's Givosiran Looks Positive Overall in Phase III Trial for Rare Disease | 03/07/2019 | |
| FDA approves first treatment for inherited rare disease | 12/12/2019 | |
| AI-Powered Tool Combs through Electronic Health Records For Faster Diagnoses of Rare Diseases | 07/06/2024 | |
| Using AI to Improve Detection of Rare Diseases | 07/19/2024 |
Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
Community Leaders
Expert Questions
Ask a question
Community User List
Start a Community
Don't See Your Condition On Rareshare?
Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.
FAQ
Have questions about rareshare?
Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.
Discussion Forum
Order Adderall with overnight shipment
Created by James071 | Last updated 21 Oct 2024, 06:04 PM
See Disorder Resources for news link on FDA approved therapy for Acute Hepatic Porphyria.
Created by RareshareTeam | Last updated 12 Dec 2019, 03:22 AM
severe chemical sensitivites
Created by MamaGould | Last updated 7 May 2011, 05:30 PM
Chemical and toxin sensitivies
Created by MamaGould | Last updated 18 Jan 2011, 11:08 PM
Hypoxia/muscle weakness/seizure actvity
Created by MamaGould | Last updated 11 Mar 2009, 02:25 PM
Hypoxia component associated with AIP?
Created by MamaGould | Last updated 3 Mar 2009, 04:13 AM
Genetic testing for Acute Intermittent Porphyria
Created by MamaGould | Last updated 18 Feb 2009, 04:13 PM
Porphyria Expert
Created by lyndawillis | Last updated 11 Feb 2009, 04:23 PM
Our Communities
Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.
FIND YOUR COMMUNITY
Our Resources
Our rare disease resources include e-books and podcasts
Our Community Leaders
Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.