Rare Human disease Porphyria

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RareHuman disease: Porphyria

Porphyria is a disorder that arises from natural chemicals thatcreate porphyrin accumulating in the body. Porphyrin often plays aninstrumental role of working with the hemoglobin in the process oftransporting oxygen to the different body parts (Sweeney, Pathak, &ampAsbury, 2016). However, higher levels of porphyrin tend to result invarious complications on a person that is affected by the particularproblem. In most cases, the larger amount of the chemicals mightinterfere with the nervous systems as well as the skins. One canidentify the symptoms and understand how it undermines the bodilyfunctioning. The symptoms tend to vary because of the nature of thedisorder as well as the severity and the early intervention is oftenconsidered quite helpful in dealing with the complications that mightarise. This essay will look at the signs and symptoms associated withporphyria, the causes, risk factors, complications as well as thetreatment suggested.

Signs and Symptoms

The symptoms are often placed under Acute and Cutaneous porphyriasthat might affect the patient differently and understand each levelassists them in knowing the particular problem that they are facing.Acute porphyria often affects the nervous system, and it might risk aperson’s life and needs one to proceed with caution. In this case,one can report the severe abdominal pain that often requiresimmediate medical intervention before they turn out to be moreserious. Seizures and the hallucinations can occur in some scenarioswhen the disorder interferes with the brain functioning (RyanCaballes, Sendi, &amp Bonkovsky, 2012). Insomnia, vomiting or evendiarrhea can be evident since the infection tends to interfere withthe nervous system. One can also experience pain in the chests, legsas well as the muscles, something that can result in numbness and atingling sensation that will make one seem more uncomfortable in somecases. Cutaneous porphyria, on the other hand, effects and thesymptoms tend to be more visible. It might make the skin to be moreoversensitive and being exposed to intense sunlight can cause variousproblems to the patients (Sweeney et al., 2016). The sunlight oftenresults in the redness of the skin that is also painful, and it mightcause swelling that makes one more uncomfortable. Blisters mightdevelop and they will take a longer time to heal, and even causeextreme itching because the skin seems more fragile (Ryan Caballes etal., 2012). The urine of the patients might turn to red or brownshowing how the problem needs immediate intervention. Most of thesesymptoms often act as a sign to see the doctor since any delays mightresult in more severe complications. The medical attention often endsup being helpful in the process of relieving the pain that thevictims might be undergoing in that period instead.


Porphyria has been associated with inherited mutation that oftenfacilitates the severity of the disorder on a person. Theenvironmental factors can also be instrumental in evoking thesymptoms and the other complications that one might experience. Themutation tends to affect the gene that focuses on creating heme whichis a major part of hemoglobin that facilitates the transportation ofoxygen to the various body parts (Ryan Caballes et al., 2012). Hemealso helps in dealing disintegrating the natural chemicals that thebody creates for the purpose of digestion. In this case, the bodyalso relies on about eight enzymes to assist in the process ofconverting porphyrin (Paneda, Lopez-Franco, Kaeppel, Unzu, Gil-Royo,D`Avola, &amp Mauleon, 2013). However, when the body lacks some ofthe different eight enzymes, it is more likely that the body willexperience an accumulation of porphyrins. The presence of highamounts of natural chemicals in the body will facilitate the symptomsbecause the body will be unable to deal with the harmful substances.In most cases, it is clear that porphyria is inherited and it occursthrough the autosomal dominant pattern where only one parent providesthe defective gene (Ryan Caballes et al., 2012). In other scenarios,the autosomal recessive pattern might be the cause, and it ariseswhen both parents have defective genes, and the child ends upinheriting the same. One might be exposed to such factors, but, he orshe will still not have the symptoms that most people might have. Thelatent porphyria often refers to the way that a person seems to haveabnormal genes associated with the disorder, but, will neverencounter the symptoms mentioned earlier (Paneda et al., 2013). Thesituation occurs in rare cases, and most of the patients that havethe genes are often forced to undergo the horrific experience of thesensitive skin and the failure of the nervous system to function asexpected.

The Risk Factors

The disorder is caused by the abnormal genes, but, the environmentalfactors are also an influential part in determining how the bodyresponds to such issues. For instance, some scenarios are known tofacilitate the development of the symptoms associated with porphyria.When they are exposed to such factors, the body tends to require moreheme, and when that fails, the body experiences the absence ofcertain enzymes that can also facilitate the signs and symptoms thatare common with the disorder (Paneda et al., 2013). Some of theseenvironmental factors include specific medication such as birthcontrol pills, psychoactive drugs or even the sulfonamide antibiotics(Paneda et al., 2013). Hence, one needs to have such knowledge andignore the urge to use such drugs to avoid some severe conditionsthat will arise after taking the same. The patients are also expectedto eat well since dieting or even fasting might have a catastrophicimpact on their bodies instead (Singal, Kormos–Hallberg, Lee,Sadagoparamanujam, Grady, Freeman, &amp Anderson, 2012). Smoking andthe alcohol use might turn out to be disadvantageous in the processof dealing with the symptoms that might arise. As a result, most ofthem are urged to stay away from such activities that will overburdentheir nervous system instead. Physical stress that is caused by otherinfections is also problematic in trying to curb the adverse signsthat one can experience (Paneda et al., 2013). Emotional stress canalso have a toll on the patient because it will interfere with thenervous system that seems to have difficulties dealing with thedisorder (Paneda et al., 2013). Menstrual hormones might give theladies a hard time as they try to identify the solution to theirchallenges. Sun exposure tends to be the most dangerous one becausemost of the victims often have oversensitive skins that will react tothe slight exposure. Most of them end up staying indoors because theyare afraid of the consequences that might arise when they walk aroundcarelessly.

Complications that the patient Experiences

Porphyria is also known to have some severe complications that willgive the patient a difficult time. First, dehydration tends to affectmost of the victims, and it might occur when one experience intensevomiting that is caused by an acute porphyria. In such situations,the patient is often advised to receive more fluids intravenouslysince through the mouth might a long time. Failure to take suchmeasures might be catastrophic because a dehydrated body often has ahard time trying to deal with the different conditions (Singal etal., 2012). In some scenarios, breathing difficulties might be aresult of the muscle weaknesses or eve paralysis that is often commonwhen the nervous system slows down. The situation often requiresimmediate medical intervention to avoid some severe respiratoryfailure. The same patient can also have low blood sodium, whichcauses a disorder known as hyponatremia that can have other seriouscomplications (Stein, Badminton, Barth, Rees, &amp Stewart, 2013).Hence, it is advisable that the patient deals with all these issuesright on time before they escalate. The build-up of excess porphyrinsin the liver often interferes with its functioning, and it mightresult in the liver damage. The situation can even lead to a livertransplant because the patient often needs a properly functioningbody that has fewer factors that interfere with its efficiency. Theacute kidney failure can also be a huge problem and will be a resultof the excess accumulation of the porphyrin in the kidneys that willundermine its ability to work properly. The damage to the kidneys ismore likely to cause high blood pressure because the nervous systemwill be forced to deal with some more challenges instead (Stein etal., 2013). Lastly, the chronic skin damage is more likely to occur,and it has been associated with the cutaneous porphyria that mighthave a lasting impact on the patient. The healing process oftenleaves behind some unusual appearance or even scars that can havestrange coloring.

Tests and Diagnosis

Some of the symptoms might be associated with other common diseases,and that shows that a diagnosis will be quite helpful. The lab testswill reveal whether the patient has porphyria or another disorder.First, the urine test is crucial, and it might identify the specificsubstances presence. For instance, porphobilinogen,delta-aminolevulinic or porphyrins are the only ones that candetermine whether the patient has the disease (Katugampola, Anstey,Finlay, Whatley, Woolf, Mason, &amp Hanneken, 2012). A blood testcan also reveal some excess levels of porphyrins that will facilitatethe symptoms that they might have. Lastly, even a stool sample testguides the physicians in understanding any accumulation of porphyrinsin the body. In some cases, the stool test can even identify what theurine test can fail to get (Stein et al., 2013). However, otheradvanced tests are often needed in determining the type of porphyriathat one is suffering from. In some cases, even the genetic testingcan be suggested when the doctors what to identify the number ofpeople that have the problem among the other family members. Moreimportant, the approaches are quite productive in knowing the healthstatus and the next that they should take in dealing with thechallenges that the patient has.

The Treatment Suggested

Porphyria’s treatment often differs depending with that particulartype, but, the changes suggested are often helpful in dealing withthe symptoms that affect the patient. First, the acute porphyriasneed one to consider various measures that will reduce the severityof the illness. For instance, one needs to stop using any drugs thatmight have facilitated the symptoms. However, the patients can seekother medications that will be helpful in dealing with the pain,vomiting or even nausea (Stein et al., 2013). The patient should seekimmediate medical attention when he or she identifies any infectionsor an illness that might have severe consequences. They can also gethemin injections which try to reduce the amount of porphyrin that thebody is producing at a time (Pischik &amp Kauppinen, 2015). Attimes, they might get intravenous fluids that are supposed to limitthe rate of dehydration that they were experiencing at first. Thepatients that experience cutaneous porphyrias are expected to getanother form of treatment that is quite different. For instance, itstresses on less exposure to sunlight to limit the severity of thesymptoms (Stein et al., 2013). In some cases, the doctors might beforced to withdraw a particular amount of blood so that they canreduce the iron that will also minimize the high amount ofporphyrins. The malaria medication is also known to absorb any extraporphyrins, but, the patients should consult their doctors beforethey take the drugs. The daily dosage of beta carotene also assiststhe patients in reducing the sensitivity of their skins and helpsthem in dealing with the intense sunlight (Stein et al., 2013).Reducing the triggers that tend to facilitate the symptoms also helpsin eliminating complications. Lastly, Vitamin D makes sure that thepatients have enough nutrients since they are forced to avoid the sun(Stein et al., 2013). Given that the body might need Vitamin D, it ismore advisable that they take a considerable amount to avoid otheradverse issues that they might face.

Changes in Lifestyle

Altering the lifestyle of a person and seeking some home remediesinclude some of the aspects that will help the patients in dealingwith the complications that they are facing. In fact, some of thesymptoms are an issue that might have severe consequences when theyare not controlled right on time. First, it is advisable that thepatients identify the specific factors that often trigger thesymptoms that they often experience (Katugampola et al., 2012). Inmost cases, the doctor can be quite helpful, and he or she willhighlight some of the specific issues that the patient should avoid.The intervention will offer the patients, the guidance that they needduring such times. The healthcare providers are other people thatneed to understand the patient do has porphyria so that they can givemedications that do not intensify the severity of complications thatthey are more likely to experience (Katugampola et al., 2012). Insome cases, the surgery and certain medications might facilitate thesymptoms, and that shows the need for the awareness. Lastly, the samepatient should understand the need to have a medical alert braceletthat monitors the health status of a person. In this case, theinformation is also inscribed into the bracelet and wearing itensures that they identify any symptoms that seem to develop.

Preventive Measures

Porphyria does not have any cure, but, one can consider some stepsthat will prevent the symptoms from being severe. First, the patientshould stay away from the medications that might cause the acuteattacks. Fasting and dieting will obviously be a disaster for thevictims, and they will be forced a proper way of dealing with thecomplications that they are experiencing (Katugampola et al., 2012).Perhaps, they can stay indoors and often have protective clothing,accessories or even sunscreen to prevent the adverse impact that thesunlight often has on their skin (Anyaegbu, Goodman, Ahn, Thangarajh,Wong, &amp Shinawi, 2012). It is also advisable that every member ofthe family undergoes genetic testing to identify the presence of thedisease. Understanding their status often gives them an opportunityto plan their future and know whether they should make certainchanges in their lifestyle to avoid any complications.


In conclusion, Porphyria is a genetic disorder that becomes worsebecause of the high accumulation of porphyrin in the body. The sameporphyrin is quite helpful since it works with hemoglobin intransporting oxygen around the body. However, porphyrin also relieson heme that breaks it down into smaller particles that workefficiently in helping the body. People with Porphyria tend to have adefective gene used in creating heme, and that means the body willhave an excess amount of porphyrin, which is harmful. Acute porphyriais known to affect the nervous system while cutaneous porphyria tendsto interfere with the skin sensitivity and prevents the patients fromwalking while exposed to the intense sunlight. On the other hand,certain environmental factors are also known to have severeconsequences for the functioning of the body. For instance, thepatients are advised to avoid alcohol, cigarettes, and stress thatare more likely to intensify their conditions. Unfortunately, thedisorder does not have any cure, and the patients are often expectedto avoid the risk factors that will trigger the symptoms that theymight experience. Ignoring certain medications and harmful activitiesoften help them in dealing with the challenges that they experience.Besides that, the malarial medications are also known to absorb theexcess amount of porphyrin in the body while certain drugs can reducetheir skin oversensitivity and they can wear sunscreen to help themdeal with the excess sunlight.


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