You can also find information about the treatment of your type of Porphyria under your specific type.
The American Porphyria Foundation (APF) promotes comprehensive care necessary for treating individuals with Porphyria. Although there is no cure for Porphyria, there is treatment available for each type of the disease.
In this section you'll find detailed information on treatment options, tips on finding a local doctor and building a good working relationship with your doctor. You will also find the Rare Disease ToolKit – an invaluable tool to use for each doctor visit. Please see the disease descriptions for additional information.
Panhematin® is a treatment for the acute Porphyrias manufactured by Recordati Rare Diseases in Lebanon New Jersey. It is a lyophilized form of alkaline heme that has to be reconstituted immediately prior to administration. Panhematin® should be infused into a large peripheral vein. A large central line or port may be used, if available.
Doctors administer Panhematin® to correct heme deficiency in the liver and repress production of porphyrin precursors. Panhematin® almost always normalizes porphyrin and porphyrin precursor values. Three to four mg/kg of Panhematin® given once daily for four days early in an attack produces a highly beneficial effect in most patients. Commonly noted are decreases in pulse rate, blood pressure, abdominal pain, as well as decreased levels of urinary porphobilinogen (PBG). These effects can occur within a day.
Panhematin® is the only commercially available heme therapy in the United States. (Heme arginate is another preparation, but is only available outside of the U.S.) While a high carbohydrate diet is recommended for patients with Porphyria, it is not regarded as highly effective by itself. Intravenous glucose therapy is a treatment option for mild attacks. When heme therapy was introduced as a treatment, it was recommended that it be initiated only after several days of glucose therapy was unsuccessful.
Today, physicians experienced in treating patients with attacks of Porphyria recommend early use of Panhematin® rather than waiting to see if glucose alone will be of decisive help.
We can still get attacks on Givlaari and why we need Panhematin
Anyone with acute hepatic porphyria (AHP) will tell you that attack pain is unique, severe, and undeniable. Once you have an attack, you will never forget how it feels.
I saw a hepatologist shortly after I was diagnosed, and I’ll never forget what he told me. “You can’t run to the emergency room every time your stomach hurts,” he said. He stood with his arms crossed, his face upturned, surveying me from across the room. Clearly, this man didn’t understand how porphyria pain felt.
I’ve had indigestion, period cramps, bloating, constipation, tumors on my ovaries and abdominal surgery. And while painful in their own right, none of those conditions come close to the category of pain elicited by AHP.
I’ve revisited that appointment dozens of times in my mind, correcting him with the confidence I’ve developed years later. As a seasoned rare disease advocate, I would speak up on behalf of my community. I would calmly explain how porphyria pain is different from any other sensation my body has ever felt, is capable of ever feeling. In my fantasy, I’d leave satisfied that I’d said my piece and hope it would help the next porphyria patient he may someday come across.
In reality, even doctors who see AHP patients regularly don’t understand porphyria attack pain. This is incredibly frustrating when I’m in an attack and just want my crisis to be taken seriously. But I can see why this issue is complicated. Measuring pain on a ten-point scale is impossible, and people in attacks respond differently. It doesn’t help that little to no research has been done on porphyria pain.
If there’s one thing I’ve learned about living with AHP, it’s that I have to prove myself time and again. Depending on who I see in the emergency room, if I need an urgent infusion of Panhematin (hemin for injection) for a bad attack, it’s not enough to have a genetically confirmed diagnosis, or a demonstrated disease history.
People everywhere with AHP experience these barriers for accessing treatment. But in recent years, yet another obstacle has begun to emerge.
Obstacles to treatment on Givlaari
In 2019, the U.S. Food and Drug Administration approved a monthly injection for the treatment of AHP. In initial studies, Givlaari (givosiran) was shown to prevent acute attacks for many. Givlaari also normalizes the high ALA and PBG levels associated with attacks. However, this proves problematic when physicians are accustomed to using biochemical tests to indicate an acute porphyria crisis.
“I laid in a hospital bed for five days in agony, waiting for my test to come back,” Maira Martinez remembered on a recent phone call. She was fearful of becoming paralyzed due to a prolonged, untreated attack. Once her ALA and PBG results came back showing normal levels, her provider wasn’t willing to treat her for AHP. Relief finally came after advocates at the American Porphyria Foundation convinced her hospitalist she needed Panhematin.
A physician perspective
Dr Sanjaykumar Hapani is a hematologist at Mercy Hospital in Oklahoma City, where he’s treated people with AHP for 10 years. He sees patients on Givlaari, who continue to get attacks despite normalized ALA and PBG. In a recent email interview, he explained how he uses both AHP treatments simultaneously. “Givlaari is effective therapy for controlling disease on a long term basis, and Panhematin is useful for breakthrough attacks to get patients through.”
There is a need for physician awareness and education of this issue. A recent study highlighting the case of a woman whose attacks persisted on Givlaari despite normal biochemical levels is an encouraging start.
In the meantime, online porphyria communities continue to share horrific experiences similar to that of Maira’s. People don’t want to discontinue the medication, because it is helping. Yet they are fearful it will prevent them from obtaining treatment for serious and severe attacks.
Improving doctor/patient relationships
Givlaari was meant to be an opportunity, a way to prevent acute porphyria attacks. It wasn’t meant to be a barrier for accessing crisis care, or a replacement for Panhematin. At some point, this message was lost or misconstrued. And it’s impacting the lives and wellbeing of people with AHP.
This problem won’t be solved by education and awareness alone. At the heart of the matter is developing intentional, trusting doctor/patient relationships. We know Givlaari normalizes ALA and PBG levels, and yet physicians continue to use them as a benchmark of illness. It’s time to abandon our reliance on biochemical tests. It’s time for doctors to listen to the needs of their patients.
GIVLAARI is a treatment used to reduce acute hepatic porphyria (AHP) attacks in adults. There are 4 types of AHP: acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALA-dehydratase deficient porphyria (ADP). GIVLAARI is given once a month as a subcutaneous injection (under the skin) by a healthcare professional.
GIVLAARI is a double-stranded small interfering RNA (siRNA) therapeutic specifically targeting ALAS1 mRNA, reducing ALAS1 mRNA levels and leading to reductions in urinary ALA and PBG.1
ALA, delta-aminolevulinic acid; ALAS1, delta-aminolevulinic acid synthase 1; mRNA, messenger RNA; PBG, porphobilinogen
SCENESSE® is a prescription medication that contains the active substance afamelanotide. Afamelanotide is used to increase tolerance to the sun and light in adults with a confirmed diagnosis of erythropoietic protoporphyria (EPP).
SCENESSE® (pronounced “sen-esse”) acts by increasing the levels of eumelanin in the skin, shielding against UV radiation (UVR) and visible light, including sunlight. Afamelanotide is a synthetic form of a hormone called alpha-melanocyte stimulating hormone (?-MSH). Afamelanotide works in a way similar to the natural hormone, by making skin cells produce eumelanin which is a brown-black type of melanin pigment in the skin. By increasing the amount of eumelanin and acting as an antioxidant, SCENESSE® can help to reduce the sensitivity of the skin to sunlight and artificial UV light sources.
Implant is given subcutaneously by a trained health care professional.