Friday, July 28, 2017

Acute Intermittent Porphyria strikes Claire Sadowniczak

Claire Sadowniczak
Type of Porphyria: 
Acute Intermittent Porphyria (AIP)

Claire Sadowniczak of Orlando, Florida, is a member of the APF. She keeps the group encouraged and laughing. Her stories about her turtle Alamo are sheer delight and lessons in tenacity for all of us.
My mother and I have AIP; I started attacks at age 11. One thing that gives me great pleasure is rescuing a wild animal, nursing it back to health and releasing it back into the wild. One rescued 5" brown and black Florida mud turtle left me a present, an egg. It hatched on a freezing day, so I couldn't release it. The black hatchling was smaller than a dime, the shell still soft when I picked her up. I carried her in the palm of my hand as I was preparing a tank of gravel with a plastic sour cream lid as her "pond". We went to the pet store to try to find food small enough for her. They said I'd never keep her alive and she's now 11 years old. When I finally put her into her tank, she ran to the front glass begging me to pick her up again. She ignored my screaming Pomeranian who was jumping up and down in front of her tank. I named her Alamo for her courage in the face of danger.
Water turtles do not have salivary glands or pulmonary muscles to swallow air to breathe. After being out of the water awhile, her mouth dries out and her beak "squeaks". When this occurs, I put her back into her pond. Once I picked her out of her pond and put her on hubby's lap, so I could clean her tank. She doesn't like him so she began squeaking her beak when I left the room, begging to get off his lap!
She potty-trained herself, too. I kept a towel on my lap when I held her. She realized that I didn't like her mess and hasn't had an accident since she was six months old. She just squeaks her beak to ask to go back into her tank.
I feed her with a plastic spoon. Since she is in the snapping turtle family, I didn't want her to associate fingers with food. She'll swallow anything presented on a spoon, including medicine and will follow a spoon anywhere! She also loves TV and gets very involved. If a car explodes on a show, she'll open her mouth at the TV.
Once she had a respiratory infection; turtles can catch colds from people. The vet told me to add a heater and thermometer to her tank to keep the water at 80 degrees. She did not like either, popping the heater off its rubber suction cups and bashing it and the thermometer against the rocks till I removed them. It is HER home after all.
Alamo enjoys being an only child and will attack a mirror until it is removed. Although the breed is supposed to be "vicious", she is a sweety with me. She once saw a piece of shiny fuzz on my sweater that she wanted to eat. She very gently tried to get it with the side of her mouth so she would not accidentally bite me through the sweater.
I carry her around under the hem of my T-shirt or in a pocket for hours, and her little head comes out like a periscope to look around. She sits on my lap in the car. In the vet's office, Alamo watches the other animals from my lap and feels quite safe and content. I put her on the grass in the back yard for exercise, and she runs straight back to me. Definitely a lap turtle!
Alamo's Mother, Claire Sadowniczak
Prior to my diagnosis of Acute Intermittent Porphyria, I underwent abdominal surgery with sodium pentothal, went into cardiac arrest and a three month major porphyria attack. Therefore, when I learned that I needed gallbladder surgery, I was very nervous.
I found a general surgeon, Dr. Cesar Cabascango, who is not only familiar with porphyria, but I was his fifth patient with porphyria. Normally, with the laproscopic gallbladder procedure, you have surgery the same day as admission and go home the following morning. Because of my porphyria, Dr. Cabascango had me admitted the day before surgery, opened a central line with three ports in my chest, and infused large doses of dextrose. He continued to infuse dextrose during surgery and for an additional two and a half days in the hospital after surgery. By faxing information on porphyria to my insurance company, he even got them to approve the additional stay in the hospital. I did not suffer a porphyria attack whatsoever.
The surgery was performed at Florida Hospital Orlando. The Assistant Director of Anesthesiology handled my case personally, and brought me through the procedure with no problems. Everyone at the hospital researched porphyria, read the brochures from the American Porphyria Foundation that I provided, questioned me about it, and treated me with such special care that it was my most positive hospital experience ever.
Many people with porphyria have horror stories about past medical care, including myself, but things are improving and the brochures provided by the American Porphyria Foundation are a great benefit when distributed to health care professionals.

Wednesday, July 26, 2017

Keep Yourself Moving!

Keep Yourself Moving

“If exercise were a pill, it would be the most widely prescribed medication in the world.” (Emory University School of Medicine) Of all the things we can do for our health, few are more generally helpful than physical exercise.
Exert yourself. Leading a physically active life can help us feel happier, think more clearly, have more energy, be more productive and, along with proper diet, control our weight. Exercise need not be painful or extreme to be effective. Regular periods of moderate exercise several times a week can be very beneficial.
Jogging, brisk walking, biking, and taking part in active sports—enough both to get your heart beating faster and to cause you to break a sweat—can improve your endurance and help to prevent heart attack and stroke. Combining such aerobic exercise with moderate weight training and calisthenics helps to strengthen your bones, internal muscles, and limbs. These activities also contribute to maintaining a higher metabolism, which automatically helps to control your weight.
Exercise can be enjoyable
Use your feet. Exercise is beneficial for people of all ages, and membership in a gym is not required to get it. Simply using your feet instead of a car, bus, or elevator is a good start. Why wait for a ride when you can walk to your destination, perhaps even arriving there faster? Parents, encourage your children to participate in physical play, outdoors whenever possible. Such activity strengthens their bodies and helps them to develop whole-body coordination in ways that sedentary entertainment, such as video games, cannot.
No matter how old you are when you start, you can benefit from moderate physical exercise. If you are older or have health problems and have not been exercising, it is wise to consult a doctor about how to begin. But do begin! Exercise that is started gradually and not overdone can help even the oldest among us to maintain muscle strength and bone mass. It can also help seniors to avoid falls.
Exercise is what helped Rustam, mentioned in the first article of this series. Seven years ago, he and his wife began jogging a little each morning, five days a week. “At first, we made excuses not to go,” he relates. “But having a partner helped to motivate both of us. Now it has become a good, enjoyable habit.”

Monday, July 24, 2017

Rocco shares his story with EPP

Sometimes the pain takes hold of the psyche and then takes over your life completely. At such moments, I have often wished that my illness could somehow be more apparent to others. Sometimes when I am treated with condescension because the pain – which feels like boiling oil on my skin – is not visible, I think about people who are blind or paralyzed. Nobody doubts a person’s disability when they see them with a white stick or a wheelchair.
Rocco Falchetto can now enjoy being outside in the sunshine without worrying about his skin burning after a few moments’ exposure (Photo provided by the author)
Rocco Falchetto can now enjoy being outside in the sunshine without worrying about his skin burning after a few moments’ exposure. (Photo provided by the author)
Thoughts like this are irrational – of course I am thankful that I don’t suffer from the additional problem of a visible disability. Despite this, the disease has a significant effect on my quality of life and it is hard to get away from the negative mindset – especially when doctors downplay the symptoms because they don't know what they are talking about or as a result of their lack of specialist knowledge about the illness. I always get angry when I hear similar stories from other sufferers.
While I would like to experience more understanding and sympathy for my condition, I can't stand pity at all. I have the disease, but Rocco Falchetto is not the disease – he is much more than that. While my illness has partly shaped who I am today, I still lead a fulfilling life and have achieved things that I can be proud of. This is another reason why it is so difficult for me to talk about it. People should get to know me first without knowing anything about the illness.
However, I now know just how important it is to tell my story.
It is high time that society takes the needs of sufferers of rare illnesses and diseases into account and the difficulties we face in finding treatments.

A difficult childhood

EPP meant that my childhood and teenage years were difficult. The many associated problems and limitations were difficult to accept. The desire to be “normal” was often much greater than common sense dictated, and put me in situations that led to a lot of pain and suffering.
The situation was also difficult for my parents, especially as one of my two older brothers also suffered from EPP. They tried their hardest to support us in leading as normal a life as we could. Of course, this was not always possible. I still remember their helplessness when my brother died of liver complications at the age of 16 in 1974, something which can occur to EPP patients in rare cases. Back then, the doctors could do nothing for him. Nowadays, his life could have been saved by a liver transplant and immunosuppressants.
The thought that this might happen to me as well – together with the need for such a complicated operation – is always at the back of my mind and becomes apparent in certain situations. For example, I am always nervous as to whether all my liver values are normal after every check-up.
Sometimes they deviate from the norm, meaning additional tests are then necessary to make sure that they don’t deteriorate further. In such moments, I often think about my brother’s death and what my parents had to go through at the time – the hospital visits, the trip by ambulance to the University Children’s Hospital in Zurich and the moment that the doctors announced they could no longer help him. I was too young to really understand what was happening back then. However, I clearly remember my mother’s devastation at losing her child and the feeling of helplessness and injustice.

The long path to acceptance

After living with EPP for many years and unsuccessfully trying out various remedies and products in an attempt to alleviate the debilitating symptoms, I finally began to accept the illness.
Whenever possible, I didn’t leave the house at all on sunny days. When going to work, for example, I was always afraid of the painful symptoms of EPP. I walked in the shade as far as possible, wore long-sleeved shirts and gloves, and even covered my face in extreme cases.
However, keeping up these precautionary measures for long periods was not realistic as it would have led to almost complete social isolation. I then had to expose myself to dangerous situations from time to time, even though I knew about the possible adverse effects that may have occurred as a result.

Hopes for a normal life

The turning point for me came when I first learned about research by another company into a substance produced naturally in the body that stimulates tanning of the skin. I discovered it online completely by accident at a time when it was still being tested in other applications. I saw its potential in treating EPP and talked to my doctor. Within a matter of months, she and the researchers concerned had organized the first human clinical trial for it.
I was one of five patients in Switzerland who took part in the clinical study.
I will never forget the day when I first received the drug– I summoned all my courage and went to sit in the sun. I then waited, afraid of what was going to happen. Ten minutes passed, then 20, then 30 (where I would normally already be in pain), then 40 minutes and more in the sun – and all without the typical painful symptoms! After over 40 years with the illness, I was convinced that I had finally found a drug that I believed tackled the EPP symptoms.
I took part in a further clinical trial. I had to travel to Zurich every two months for a new injection of the drug implant, which was a small price to pay given what I felt was its positive effect on my quality of life.
I am currently benefitting from a compassionate use program which allows me to continue using the drug and, thanks to special legislation, most Swiss health insurance companies now reimburse the cost of such medication.

Difficult regulatory environment

However, the current situation is only temporary – if the product is not formally approved, then the reimbursement and the treatment can be withdrawn. This would be a heavy blow.
I don’t like to think about what would happen in this case, but the increasingly challenging context surrounding drug approvals does make me nervous as a patient.
Some countries have even started to put a price on the quality of life. For example, at the end of 2010 the Swiss Federal Court passed a judgment ruling that health insurance companies were not obliged to reimburse the costs for treating Pompe disease, a rare, serious metabolic disorder. Treatment of Pompe disease can cost several hundred thousand Swiss francs a year. While this is undoubtedly expensive, the therapy can significantly ease the symptoms and allow patients to lead a relatively normal life.
This shows how difficult it still is for people with rare diseases to make their voices heard, not to mention how inadequately their needs continue to be met. I am also worried that our modern society is not more committed to discovering creative and innovative solutions for the benefit of these patients.
This medication has radically changed my day-to-day life I can now do things that I would never have been able to do before without pain. Not only my friends and family benefit from this – my working life has also become much easier.
I can now go to the office without having to always move about in the shade and go on business trips without thinking so much about the unfamiliar surroundings. Lastly, I can now move freely around at work, meet with colleagues and simply enjoy our wonderful working environment.
The EPP sufferer community is a small one in Switzerland, gathered in a patient organization that I chair. We all know one another. It is very moving to hear how patients who have undergone treatment with the drug felt the sun warm their faces for the very first time without causing pain and suffering.

Friday, July 21, 2017

Organizations around the world unite for Porphyria links

The following organizations have websites in English
The American Porphyria Foundation has a very extensive website, including a section for medical staff:

The Australian Porphyria Association is at
The following sites have web in their own language:
Swedish Porphyria Association:
Norway: Norsk Porfyriforening:
Porphyria Association Denmark:
Italian Porphyria Association:
Dutch EPP Foundation:
EPP Germany (who also cover other types of porphyria)
Porphyria Association of Poland:
France: Association Française des Malades Atteints de Porphyries:
Spain: Asociación Española de Porfiria:

Wednesday, July 19, 2017




Las porfirias son un grupo de trastornos genéticos causados por problemas con la forma en que el cuerpo produce una sustancia llamada hemo. El hemo se encuentra en todo el cuerpo, especialmente en la sangre y en la médula ósea, donde transporta oxígeno.
Existen dos tipos principales de porfirias: Uno es el que afecta la piel (cutáneo) y el otro es el que afecta el sistema nervioso. Las personas que tienen porfiria cutánea desarrollan ampollas, picazón e inflamación en la piel cuando se exponen al sol. El tipo de porfiria que afecta al sistema nervioso se llama porfiria aguda. Los síntomas incluyen dolor en el pecho, abdomen, brazos o piernas, espalda, adormecimiento de los músculos, hormigueo, parálisis o calambres, vómitos, estreñimiento y cambios mentales o en la personalidad. Estos síntomas pueden aparecer y desaparecer.
Algunos desencadenantes pueden causar una crisis, como ciertas medicinas, el cigarrillo, el consumo de alcohol, las infecciones, el estrés y la exposición al sol. Las crisis se desarrollan en horas o días. Pueden durar días o semanas.
La porfiria puede ser difícil de diagnosticar. Requiere de exámenes de sangre, orina y heces. Cada tipo tiene un tratamiento diferente. Parte de este es evitar los desencadenantes. También puede incluir tratamiento con hemo (hematina) a través de una vena, medicamentos para aliviar los síntomas o extracción de sangre para reducir la cantidad de hierro en el cuerpo. Las personas que presentan varios episodios quizás deban ser internadas.
NIH: Instituto Nacional de la Diabetes y las Enfermedades Digestivas y Renales

Monday, July 17, 2017

What are common signs and symptoms of AHP?

What are common signs and symptoms of AIP?

Severe abdominal pain: the most common AIP symptom

The most common symptom of AIP is severe abdominal pain that usually cannot be relieved with pain medicine such as Advil® (ibuprofen) or Tylenol® (acetaminophen). More than 85% of people who develop AIP symptoms have abdominal pain.

Experiencing symptoms is known as having an “AIP attack.” Symptoms may occur for a set period of time, then go away – only to come back later.

Common AIP symptoms

Symptoms can occur in many different areas of your body during an AIP attack. These include:


  • Abdominal pain
  • Vomiting
  • Constipation
  • Diarrhea

Early diagnosis and treatment of AIP are critical

AIP attacks can be very serious. And symptoms may get worse over time. Untreated attacks can cause serious damage to your nervous system —including paralysis, and even death. That's why early diagnosis and treatment of AIP is so important.
If you have any of the symptoms listed above, talk to your doctor right away.

What triggers AIP attacks?

  1. Steroid hormones, particularly estrogen and progesterone. These hormones fluctuate the most during the 2 weeks before a woman’s menstrual periods start.
  2. Unhealthy behaviors such as drinking alcohol, smoking, or using illegal drugs.
  3. Stress on the body caused by infections, surgery, or physical exhaustion.
  1. Certain prescription drugs. Attacks can also be triggered by starting a new prescription drug.
  2. Changes in eating patterns such as fasting or crash dieting.
  3. Mental stress or emotional exhaustion.

What causes AIP?

AIP is caused by a partial lack of an enzyme known as porphobilinogen deaminase (PBGD). An enzyme is a type of protein that helps to regulate the bodys tissues and organs. Enzymes carry out almost all of the thousands of chemical reactions that take place in cells.
If you have AIP, you have about half of the normal amount of PBGD in your body. This is usually enough for your body to do what it is supposed to do. But triggers like those listed above can upset your body's chemical balance enough to cause symptoms.

Learn about a treatment for repeated acute AIP attacks



  • Try to identify your possible triggers. Then try to reduce or avoid as many as you can. If you continue to experience attacks, keep writing down suspected triggers. Look for patterns of things that occurred right before an attack to identify any changes you can make. Talk to your doctor if you need help.
  • Be careful when changing your eating patterns. If you want to lose weight, get advice from your doctor or nutritionist before starting any diet.
  • Call your doctor at the first sign of an attack. Repeat attacks are often similar. They may start the same way and you may have the same symptoms.
  • Wear a medical alert bracelet. Doctors need to know about your AIP so that they do not prescribe drugs that may make your AIP worse.

Wednesday, July 12, 2017

Updates on PCT Porphyria

Porphyria cutanea tarda

Created 1997.

What is porphyria cutanea tarda?

Porphyria cutanea tarda (PCT) is the most common type of porphyria.
An increase in porphyrins in the skin result in photosensitivity, ie, the skin is damaged by light.

What are the symptoms of porphyria cutanea tarda?

Individuals with PCT present with increasingly fragile skin on the back of the hands and the forearms. Features include:
  • Sores (erosions) following relatively minor injuries
  • Fluid filled blisters (vesicles and bullae)
  • Tiny cysts (milia) arising as the blisters heal
  • Increased sensitivity to the sun
Although these features may also occur on the face and neck as well, it is more common to notice mottled brown patches around the eyes and increased facial hair (hypertrichosis). Occasionally the skin becomes hardened (scleroderma) on the neck, face or chest. There may be small areas of permanent baldness (alopecia) or ulcers.
Characteristically, the urine is darker than usual, with a reddish or tea-coloured hue.
The clinical appearance of variegate porphyria is similar but the biochemical abnormality is different.

What is the cause of porphyria cutanea tarda?

PCT is due to a defective enzyme in the liver (uroporphyrinogen decarboxylase). This is involved in synthesis of the red pigment in blood cells (haem). Some families carry an enzyme that is prone to oxidation under certain circumstances, most often due to iron accumulation.
There are basically two forms of PCT, type 1 and type 2.
Type 1 PCT generally begins in mid-adult life after exposure to certain chemicals that increase the production of porphyrins (precursors of haem) in the liver. These include:
  • alcohol (in 50% patients)
  • oestrogen eg oral contraceptive, hormone replacement (in 50% of affected women) or liver disease
  • polychlorinated aromatic hydrocarbons (eg, dioxins, when PCT is associated with chloracne).
  • iron overload, due to excessive intake (orally or by blood transfusion), viral infections (hepatitis, especially hepatitis C, in 15%) or chronic blood disorders such as thalassaemia (acquired haemochromatosis), or hereditary haemochromatosis (in 20%)
Type 2 PCT is familial and associated with abnormal genetic variants of uroporphyrinogen decarboxylase. Trigger factors are less often involved and onset of PCT is often younger than in type 1 PCT.

What investigations should be done?

  • Skin biopsy : characteristic changes are seen which differentiates PCT from other blistering diseases.
  • Examination of the urine with a Wood's lamp: may reveal coral pink fluorescence due to excessive porphyrins.
  • 24 hour urine porphyrin profile: total porphryins are usually elevated 5- to 20-fold above the upper reference limit. Most of the excreted porphyrins are uroporphyrin and a 7-carboxyl porphyrin.
Other important tests include:
  • Complete blood count to assess haemoglobin levels.
  • Measurement of iron stores, which may be increased in over 30% of patients.
  • Liver enzymes because the liver sometimes does not function normally.
  • Fasting blood sugar because of the increased incidence of diabetes.
  • Antinuclear antibodies because of the increased incidence of lupus erythematosus.
  • Viral hepatitis studies
If a blood ferritin shows iron stores are increased, further investigations may include transferrin saturation and genotyping for hereditary haemochromatosis.

What is the management of porphyria cutanea tarda

  • Avoid alcohol, oestrogen, and iron.
  • If using pesticides, be very careful to avoid contact with polychlorinated aromatic hydrocarbons (eg. 2,4,5T).
  • Apply an opaque sun-block and cover up when outside; the responsible light is the "Soret" band at 400 nm which is unfortunately not blocked by most sunscreens.
  • Use tanning cream containing dihydroxyacetone: this can block the responsible light to some extent.
  • Phlebotomy (removal of blood) — up to 500 ml blood is removed every one to two weeks until the haemoglobin and iron levels drop to low normal levels. It may take 3 to 6 months to improve. Venesection may need to be repeated after a year or more.
  • Antimalarial tablets, ie, low-dose chloroquine or hydroxychloroquine may be recommended, but must be used cautiously. This medication makes the porphyrins more soluble so more are excreted in the urine.
  • Autologous red cell transfusion (this is a blood transfusion using the patient's own red cells that have been washed to remove plasma thereby reducing the circulating porphyrins).


  1. Deferasirox for Porphyria Cutanea Tarda
    Graeme M. Lipper, MD, Medscape, 2012
  2. A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda.
    John D Phillips et al., Proc Natl Acad Sci U S A, 2007
  3. Porphyria variegata and porphyria cutanea tarda in siblings: chemical and genetic aspects.
    C J Watson et al., Proc Natl Acad Sci U S A, 1975
  4. Alcohol and Skin Disorders: With a Focus on Psoriasis
    Natalia Kazakevich et al., Medscape, 2011
  5. Fingernail and Toenail Abnormalities: Nail the Diagnosis
    Mark P. Brady, PA-C, Medscape, 2015

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