Porphyria

By: Olivia Lord

What is Porphyria

Porphyria is a Metabolic disease, it is a build up of to many porphyrins made from the process heme. Porphyrins are excreted in the urine but the build up of porphyrins is toxic.
Think Porphyria

Body System affected by Porphyria

The body system affected by Porphyria is your blood

  • The blood goes through a process called Heme and during that process porphyrins are produced.

  • The blood carries the porphyrins to your urinary tract where it is excreted, but a build up of these porphyrins is toxic and when triggered symptoms will start to arise.

How the body system works with and without Phorphyria

  • When working normally your blood flows making and producing chemicals and distributing oxygen.

  • When working with the disease too many porphyrins are made and it starts to poison your body causing one of the most common symptoms, severe abdominal pains.

Target Population

  • Porhyria has no specific gender, it is passed through genetics so anyone may have it.

  • You will most likely start seeing symptoms in your mid to late teens, in some cases younger children have it.

  • Their is no specific race it is known in all.
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Onset

  • Porphyria is a genetic disease

Some onsets include:

  • Certain drugs ( including antibiotics, birth control, and psychotic drugs)

  • Liver disease

  • Excess iron in your body

  • Dieting or Fasting

  • Smoking

  • Alcohol use

  • Physical stress such as infections, illnesses, or injuries.

Diagnosis

For porphyria doctors will do,

  • Urine tests- Can show elevated chemical levels.

  • Blood tests- Can show elevated levels of porphyrins in your blood plasma.

  • Stool sample test- Can also show elevated levels of porphyrins.

  • Stool sample- A test of the feces to check and see if anything is happening in your digestive system (Infection, poor nutrients absorption, or cancer.)

Signs and Symptoms

Signs and symptoms may include:

  • Low sodium in your blood

  • Severe abdominal pain

  • Pain in chest, legs, or back

  • Vomiting

  • Insomnia

  • High blood pressure

  • Seizures

  • Mental changes such as, confusion, hallucinations, or paranoia.

  • Muscle Pain

  • Red or brown urine

  • Breathing Problems

  • Sensitivity to sun

  • Blisters that take weeks to heal

  • Scars or skins color changes from blisters

  • Fragile skin

and more.

Treatment for Porphyria

Porphyria is incurable but to help reduce attacks you can:

  • Avoid medications known to trigger acute attacks.

  • Don't use alcohol or illegal drugs.

  • Avoid fasting and dieting that involves severe calorie restriction.

  • Don't smoke.

  • Minimize sun exposure. When you're outdoors, wear protective clothing and wear high SPF sunscreeen.

  • Treat infections and other illnesses.

  • Reduce emotional stress.

Prognosis

Porphyria is incurable but unless your case is extremely bad you do not have a certain life expectancy.


Connections

I selected Porphyria because my uncle Brian is suffering from this. His porphyria gave him Hepatitis C. Brian was cured of Hepatitis C in 2015 during of trial test of a new drug. I thought it would be interesting to learn more about porphyria because of once when he was visiting he got " An Attack" which was severe abdominal pains and vomiting and had to bath in boiling hot water relieve the pain.

Works Cited



Works Cited

"American Porphyria Foundation." American Porphyria Foundation. Web. 27 Jan. 2016.

"Health & Medical Information Endorsed by Doctors." MyVMC. Web. 27 Jan. 2016.

"Health & Medical Information Endorsed by Doctors." MyVMC. Web. 27 Jan. 2016.

"Health and Wellness Blog Magazine - HRFnd." HRFnd. Web. 27 Jan. 2016.

"Home." University of Maryland Medical Center. Web. 27 Jan. 2016.

"Mayo Clinic." Mayo Clinic. Web. 27 Jan. 2016.

"National Human Genome Research Institute (NHGRI) - Homepage." National Human Genome Research Institute (NHGRI) - Homepage. Web. 27 Jan. 2016.

Salisbury, Lutishoor. "CAB Abstracts on CAB Direct, EBSCOHost, and Thomson Reuters Web of Knowledge: Comparing the Platforms and Their Searching and Retrieval Capabilities." Charleston Adv The Charleston Advisor 12.3 (2011): 5-14. Print.

Salisbury, Lutishoor. "CAB Abstracts on CAB Direct, EBSCOHost, and Thomson Reuters Web of Knowledge: Comparing the Platforms and Their Searching and Retrieval Capabilities." Charleston Adv The Charleston Advisor 12.3 (2011): 5-14. Print.