Acute Intermittent Porphyria

Statement of Illness/Disease

Acute Intermittent Porphyria is a genetic metabolic disorder that affects the production of an important protein called Heme. Heme is a part of hemoglobin. Hemoglobin is used to carry oxygen to the body. Acute intermittent porphyria affects the nervous system. Symptoms are neuropahty and other things such as abdominal pain and muscle weakness. The word Porphyria comes from the greek words Purple Pigment. This refers to the fact that the urine ofpeople with acute intermittent porphyria is purplish during the acute attacks.

Normal Function of the Organ Affected

This disease affects the nervous system. When the nervous system is functioning normally it tells the body of its surroundings and controls movement. The nervous system controls our movements and allows us to move, feel, hear, taste and other things. It connects us to the world around us. It is composed of neurons. The nervous system is composed of the peripheral nervous system (PNS) and the central nervous system (CNS). The central nervous system is made up of the brain and the spinal cord. The PNS connects the CNS to the rest of the body. Both of these systems send signals to each other. For example the brain sends signals to the legs so they can move. And the legs send pain to the brain. The central nervous system is responsible for all the movement in the body and all the things we feel. It controls our senses.

Definition of Disease

This disease is a genetic disorder that affects the production of heme in the body and also affects the nervous system and muscles and skin. By not letting the heme being made in the cell, porphobilinogen accumulates in the cytoplasm of the cell. Since the heme can not be synthesized, oxygen cannot bond to blood cells to deliver oxygen. It also affects the nervous system and can cause abdominal pains, vomiting, muscle spasms, depression and anxiety. When a person has AIP, they have attacks. These attacks can occur suddenly, usually with severe stomach pain followed by vomiting and constipation.

Treatment

Current treatments and therapies are a high carbohydrate diet. If a person with acute intermittent porphyria is having an attack they must be administered Hematin. Hematin is a porphyrin containing iron. Hematin must be given early in an attack. They do not cure the attack but shorten the attacks and make them less intense

Conclusion

I think the disease is very bad. To try to prevent it I think people should have more iron in their system. I would also search through family history to see if any relatives have it. Because this disorder is genetic, checking if any other family members have had this in the past is a good way to find out. If I knew I had this disease I would make sure to eat all the things I had to eat to keep this disorder at bay. I would also keep the treatments for the attacks around just in case.

References

1. (DeLoughery, Thomas. (2009). Porphyria, Acute intermittent. Retrieved August 10, 2009, from http://emedicine.medscape.com/article/205220-overview )

2. (Chudler, Eric. (1996-2006). Neuroscience for Kids. Retrieved August 10, 2009, from, http://faculty.washington.edu/chudler/nsdivide.html). 

3. (http://en.wikipedia.org/wiki/Circulatory_system)

4. (Anderson K. The porphyrias. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 229.)

5. (AcutePorphyriaFoundation (2009). Acute Intermittent Porphyria (AIP). Retrieved July 23, 2009, from http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/AIP

6. (http://en.wikipedia.org/wiki/Porphyria