Porphyria

1. Porphyria by Chris Romanoski and Kyle Hohimer

2. What Is Porphyria? • Porphyria includes a group of rare genetic disorders, in which an important part of hemoglobin, called heme is not made properly. • This results in buildup of chemicals on body called porphyrins. • Porphyria directly affects the human nervous system and areas of the skin, but is possible to only affect one of the two. • This disease is often inherited from a parent, but environmental factors may initiate the disease. • Autosomal recessive trait

3. Heme • Found primarily in red blood cells, liver, and bone marrow. • Important in hemoglobin, an iron-rich protein that gives your blood its red color. • Hemoglobin is vital in respiration as it enables oxygen to be carried throughout the body and release carbon dioxide. • Naturally, enzymes convert porphyins into, but when there is a genetic mutation in the gene, the porphyins build up.

5. What Causes Porphyria? • Arises from disruption of the production of heme. • Autosomal recessive pattern inherited form parent • These gene defects cause one or more of the enzymes involved in the process of converting porphyrins to heme to be abnormal. • A form of porphyria is latent porphyria, in which one is just a carrier of the disease and can pass the genes onto his/her children. • In specific environments, your brain triggers for your body to make more heme, overwhelming the enzyme and triggering the disease. • Triggers include: Alcohol, smoking, drugs, and excessive fasting

6. What Are The Symptoms? • Abdominal pain or cramping (only in some forms of the disease) • Light sensitivity causing rashes, blistering, and scarring of the skin (photodermatitis) • Problems with the nervous system and muscles • Muscle pain or muscle weakness or paralysis • Numbness or tingling • Arm or leg pain • Back pain • Personality changes • Low blood pressure • Severe electrolyte imbalances • Shock

7. Is There A Treatment? • No cure • Hematin given through a vein • Pain medication • Propranolol to control the heartbeat • Sedatives to help you feel sleepy and less anxious • Beta-carotene supplements • Painful Skin Redness • Chloroquine • Fluids and glucose to boost carbohydrate levels, which helps limit the production of porphyrins • Removal of blood (phlebotomy) • Depending on the type you have, your may need you to: • Avoid alcohol • Avoid drugs that may trigger an attack • Avoid injuring the skin • Avoid sunlight • Eat a high-carbohydrate diet • Use sun screen

8. Quality of Life • Life Expectancy: 40-60 years • Challenges and Complications include: • Acute Porphyria attacks • vomiting • dehydration

9. Diary- Birth • Today my daughter was diagnosed with Porphyria. The doctors took a blood sample from the umbilical cord right after she was born allowing for them to test an easy source of DNA for a genetic diagnosis of porphyria without hurting the infant. Like I said, she has been diagnosed but has not began to show symptoms. She will later in life face challenges that she must overcome.

10. Diary – First Day of 8th Grade She has just begun showing symptoms of the disease because as said before, symptoms do not show until after puberty. She has had an acute Porphyria attack in which she experienced: • Pain in arms, legs • Muscle pain, tingling, numbness, weakness or paralysis • Dehydration • Excessive sweating • Seizures • Confusion • Skin Redness and porphyrias This lasted for two weeks as many Porphyria acute attacks are said to last.

11. Diary – at age 28 • She is married now and has one child. My daughter is still experiencing symptoms. Pregnancy is often not affected by the mother having Porphyria and may give birth to a healthy child. This was the case with my daughter as she gave birth to a healthy baby boy. He had testing for Porphyria but results came up negative.

12. Sources • http://www.mayoclinic.com/health/porphyria/DS00955/DSECTION=symptoms • http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002188/