Porphyria Educational Services
All information published in the Porphyria Educational Services Monthly Newsletter is
to provide information on the various aspects of the disease porphyria and it's associated
symptoms, triggers, and treatment.
Columnist and contributors and the information that they provide are not intended as a
substitute for the medical advice of physicians. The diagnosis and treatment of the
porphyrias are based upon the entire encounter between a physician and the individual
Specific recommendations for the confirmed diagnosis and treatment of any individual
must be accomplished by that individual and their personal physician, acting together
Porphyria Educational Services in no way shall be held responsible in part or whole for
any injury, misinformation, negligence, or loss incurred by you. In reading the monthly
newsletters you need to agree not to hold liable any contributing writers.
Use of Anxiolytics in Acute Porphyrias
There has been limited publication of medical research specific to the use of anxiolytics in the treatment of porphyrics, however individual pharmaceuticals have been studied.
Some Anxiolytics are known to be safe. Such Anxiolytics includes Temazepam, Lorazepan, Droperidol and Phenothiazines.
Some Anxiolytics have been found to be contentious either through patient reporting or laboratory studies.
The majority of all other Benzodiazapines are considered Unsafe and should be avoided by acute porphyrics.
Merrilyn Elder MNS NP
Inheritance of Genetic Conditions
Most of the porphyrias are inherited metabolic diseases.
But one can ask how they come to be inherited.
Some genetic conditions are caused by mutations in a single gene.
Depending on the gene that is involved, there are set patterns
Inheritance patterns can be autosomal dominant or autosomal recessive.
Many of the porphyrias are autosomal dominant inheritance.
In autosomal dominant inheritance only one mutated copy of the gene is needed for a person to be affected by an autosomal dominant disorder.
Acute intermittent porphyria (AIP) is an example of autosomal dominant inheritance.
Each affected person usually has one affected parent.
In autosomal recessive inheritance two copies of the gene must be mutated for a person to be affected by an autosomal recessive disorder.
ALA-D porphyria ia an example of autosomal recessive inheritance.
An affected person usually has unaffected parents who each
carry a single copy of the mutated gene and are commonly known as carriers.
There are other forms of inheritance which are unrelated to the porphyrias including those of X-linked dominant; X-linked recessive; and Mitochondrial.
Many other disorders are caused by a combination of the effects of multiple genes or by interactions between genes and the environment.
Such disorders are more difficult to analyze because their genetic causes are often unclear, and they do not follow the normal patterns of inheritance.
Many of these disorders are conditions caused by multiple genes or gene/environment interactions.
Keith Egleland PhD
Why UA's Should be Performed
Urinary analysis (UA) is important during an acute episode of porphyria for several reasons.
For the acute porphyrias it is important to establish the cause of the attack itself. UA's cause help pinpoint possible triggers
when the porphyria patient is unaware of the specific cause.
UA's first and foremost look at the urine appearance and color.
After urine is allowed to stand and be exposed to air, porphyrins elevation in the urine will often cause a change in coloration of the urine.
Most urine, but not all urine of porphyria patients will change in color during the acute attack itself. Such a change was depicted in the biographical movie rendition of the "Purple Secret" telling the story of the King George III whose urine was documented to turn purple.
Secondly UA's most often undergo a urinalysis which is an examination of the urine by physical or chemical means.
UA urinalysis comprises a battery of chemical and microscopic tests that help to screen for urinary tract infections as well as, renal disease, and diseases of other organs that result in abnormal metabolites (break-down products) appearing in the urine.
UTI's (urinary tract infections) are known to be a leading trigger of acute episodes in female porphyrics and to a lesser degree in male subjects.
UA's usually are analyzed in the laboratory.
Gross and chemical exam can reveal a lot about the health of an individual by their UA.
Urine appearance and color as previously mentioned is an indicator for many conditions. When a person is healthy, the urine generally is a pale and clear yellow.
When there is infection present or certain medical conditions present the urine can become cloudy, layered, turbid, dark and even red, green or blue.
Nitrates in the urine indicate a UTI. Often it is found that the UTI is the trigger of an acute episode of porphyria.
The presence of WBC (white blood cells) is also an indicator of an infection (UTI).
Hemoglobin in the urine can be an indicator of hemolysis.
When there is a degradation product of hemoglobin this is indicated in the bilirubun that is present.
Urine ketomes present in persons who have diabetes.
Urine glucose can also be detected in the urine.
Through microscopy bacteria and other microorganisms which are not normally present can be isolated. Often a urine culture is ordered when bacteria is present.
For porphyria patients it is important to remember that some foods may also color the urine red besides porphyria itself.
Such foods include field beets and fresh blackberries.
In addiiton to foods being a cause of color change in urine,
some pharmaceuticals can change the color of urine.
Pharmaceutical known for causing change of color in UA collections are chloroquine, iron supplements, levodopa, nitrofurantoin, phenazopyridine, phenothiazines, phenytoin, riboflavin, and triamterene, many of which are contraindicated for porphyria patients.
Bilirubin in the urine is a sign of a liver or bile duct disease which includes the hepatic porphyrias.
Urobilinogen is often found in small traces in the urine of hepatic porphyria patients.
Nitrites and white blood cells are an indication that a urinary tract infection (UTI) is present, and is often the trigger of an acute attact of porphyruia.
For porphyria patients which UTI's often present, preventive measures should be instituted to avoid possible triggering of acute attacks. Such preventive measures include daily ingestion of Vitamin C, cranberry extract capsules and even low dosage antibiotics. Before starting preventive measures visit with your physician.
Allyn Luxford PA
Attitude is Important in Porphyria
Attitude is a very important factor for porphyria patients.
Studies show that one's mental health can influence their physical health. This is especially true in the porphyrias.
Porphyria patients need to reflect on their outlook on life and whether how they view situations positively or negatively.
Surviving porphyria demands a positive attitude.
Porphyria patients with a negative outlook often find isolation and depression and sometimes consider suicide as an alternative.
A positive attitude cuts through the negativisms of porphyria.
Certain personality traits of porphyria patients can influence how well the patient can live and even how long the patient can live.
Such personality traits include those such as optimism or pessimism.
Medical researchers have found that patients who only express a negative attitude do not live as long as others.
A positive attitude is important in dealing with porphyria.
Porphyria patients must deal daily with medical professionals who do not understand the disease or those who do not accept a diagnosis of such a disease.
The porphyrias are for the most part unknown and are greatly misunderstood.
Poprhyria patients are faced with negativisms regularly by
well meaning persons who exclaimed, "the disease is so rare, you can not possibly carry the defect".
Even worse is the often heard retort, "it is all in your head".
Porphyria patients additional often have to deal with family members who discount the present of an inherited disease.
Often such family members will view the acute patient as
being lazy, tarnishing the family image, or attention seeking.
Family members are often in denial as well, since many are latent carriers of the disease, and no one wants to acknowledge themselves as a carrier because of the fear of blame being placed on them for the presence of the disease.
Having a positive attitude has other benefits as well.
Porphyria patients with PN often find that a positive attitude helps reduce pain, and hysical limitations due to their disease and pain.
Porphyria patients with a positive attitude find that often they can continue to lead an active life without giving in to the disease.
Porephyria patients with a positive attitude usally avoid depression, and suicidal thoughts.
Dr. Kenneth Carlson
Bone Pain Associated with Porphyria
Bone pain is often found associated with the PN that all too often follows acute episodes of porphyria.
Bone pain is seen less commonly than joint pain but can be very painful.
Likewise bone pain is less common than muscle pain which also presents during porphyric PN.
Bone pain should always be taken seriously.
Bone pain or tenderness involves aching or other discomfort in one or more bones.
Bone pain can benefit from the use of electric mattress covers in which heat radiates upward into the painful bones and joints as well as muscles which may also be presenting with pain.
Short 10 minute soaks in a hot tub or warm bath can also be beneficial.
Some porphyria patients find the use of TENS units to be beneficial in alleviating pain.
When the more conventional methods fail to alleviate pain some physicians will prescribe various forms of pain medications.
Joseph Huddleston PA
Magnesium Important for Porphyrics
Magnesium is an important factor for porphyria patients.
Magnesium in the diet is an essential mineral for human nutrition.
Magnesium has several important metabolic functions.
Magnesium plays an important role in the production and transport of energy.
Magnesium for those with PN is also important for the contraction and relaxation of muscles.
Magnesium is involved in the synthesis of protein.
Magnesium moreover is crucial in the functioning of certain enzymes in the body.
Toxic symptoms from increased magnesium intake are not common because the body eliminates excess amounts.
Magnesium excess almost always occurs only when magnesium is supplemented as a medication.
Most dietary magnesium comes from vegetables, particularly dark-green, leafy vegetables.
Other foods that are good sources of magnesium are soy products, such as soy flour and tofu; legumes and seeds; nuts (such as almonds and cashews); whole grains (such as brown rice and millet); and fruits or vegetables (such as bananas, dried apricots, and avocados).
Deficiency of magnesium can occur in PCT patients with a history of alcohol use.
Magnesium deficiency often occurs in porphyria patients whose magnesium absorption is decreased due to malabsorption. Malabsorption in porphyria patients is due to inadequate absorption of nutrients from the intestinal tract.
Magnesium deficiency although generally rare, does occur in acute porphyria especially when electrolyte balance is abnormal and the patient is experiencing a prolonged acute episode.
Certain medications or low blood levels of calcium may be associated with magnesium deficiency.
The symptoms of Magnesium deficiency include muscle weakness, fatigue, hyperexcitability, and sleepiness.
Often patients will present with irritability, fatigue, insomnia, and muscle twitching. poor memory, apathy, confusion, and reduced ability to learn and inability to focus. Porphyria patients complain of "brain fog."
In addition some porphyria patients will present with tachycardia and cardiovascular changes.
Porphyria patients with PN can sometimes present with tingling, numbness, and a sustained contraction of the muscles, along with hallucinations and delirium.
Magnesium stearate has been used as a treatment for some forms of porphyria.
Magnesium stearate in conjunction with pure calcium and Vitamin D is used to prevent osteroporosis and brittle bones.
Magnesium stearate are often suggested by physician use use before bedtime to allow for improved quality of sleep.
Sheryl WIlson MNS, RD