the letter P for Porphyria

In other news just before I was released the doctors decided to run this urine sample test for porphyria due to my half dutch heritage. The funny part is after asking again about past health issues, my grandarents still say that everyone died of natural causes except we know theres a history of stomach, liver, and other cancers.....I love them.

Anywho todays special letter is the letter P for Porphyria. It's like this last test that they're checking me for and to everyone else it has to be true because we have nothing else to go on. Yet, I'm having a hard time hoping in this as I feel abandoned by doctors and know it's up to God. This could be it or not but in the end I just need an answer. And at this moment I couldnt care less I just want the pain to stop!!!

My research has shown me that Porphyria has many different forms, theres: 

Acute intermittent porphyria - primarily present with nervous system involvement, often with severe abdominal pain, vomiting, neuropathy and mental disturbances.  

Cutaneous porphyrias - presents with skin manifestations often after exposure to sun due to the accumulation of excess porphyrins near the surface of the skin.^[1]Physiologically, porphyrias are classified as hepatic or erythropoietic based on the sites of accumulation of heme precursors, either in the liveror bone marrow and red blood cells.^[1]

The term "porphyria" is derived from the Greek πορφύρα, porphyra, meaning "purple pigment". The name is likely to have been a reference to the purple discolouration of feces and urine when exposed to light in patients during an attack.^[2] Although original descriptions are attributed to Hippocrates, the disease was first explained biochemically by Felix Hoppe-Seyler in 1871,^[3] and acute porphyrias were described by the Dutch physician Barend Stokvis in 1889.^[2][4]

This Porphyria is a rare group of disorders that is passed down through families , in which an important part of your hemogloblin, the heme part is not made properly. This Heme is found in the myoglobin of certain muscles, but normally the body makes heme in a multi-step process. Porphyrin's are made during the several steps of this process. Patients with porphyria have a deficiency of certain enzymes needed for this process.

This causes abnormal amounts of porphyrins or related chemicals to build up in the body. There are many different forms of porphyria. The most common type is porphyria is cutanea tarda (PCT). This type is triggered by drugs, infection, alcohol, and hormones such as estrogen all of which are likely to trigger attacks of certain types of porphyria.(check)

Porphyrias involve three major symptoms:
1) Abdominal pain or cramping (only in some forms of the disease) (check) 

2) A Light sensitivity causing rashes, blistering, and scarring of the skin (photodermatitis) which I don't have. 

3) Problems with the nervous system and muscles (sezures, mental disturbances, nerve damage) (check) And these attacks can occur suddenly, they usually appear with severe abdominal pain followed by vomiting and constipation.

For some being out in the sun can cause pain, sensations of heat, blistering, and skin redness and swelling. Blisters heal slowly, often with scarring or skin color changes. They may be disfiguring. Urine may turn red or brown after an attack. With this I have noticed that it doresn't apply to me yet I do get burnt quite easily in the sun I dont think it means I have this particular symptom. 

Other symptoms may include: (5/10)

Muscle pain (check)

Muscle weakness or paralysis (check)
Numbness or tingling
Pain in the arms or legs (check)
Pain in the back (check)
Personality changes
Attacks can sometimes be life threatening, producing:
Low blood pressure (check)
Severe electrolyte imbalances

Shock

Your doctor will perform a physical exam, which includes listening to your heart. You may have a fast heart rate (tachycardia). The doctor may find that your deep tendon reflexes (knee jerks or others) do not work properly. (mine do)
Blood and urine tests may reveal kidney problems or other problems. (check) Special tests can measure porphyrins in the blood. I think the Doctors are checking this with one of the zillions of viles they took. 

Some of the other tests that may be done include:

     Blood gases

     Comprehensive metabolic panel
     Porphyrin levels and levels of other chemicals linked to this condition (often checked in the urine)

     Ultrasound of Abdomin (I've had 3 or 4 in the last two weeks) (check)

     Urinanalysis                                                                                                                                                

Some of the medicines used to treat a sudden (acute) attack of porphyria may include:

• Hematin given through a vein (Through IV)
• Pain Medication
• Propranolol to control the heartbeat
• Sedatives to help you feel sleepy and less anxious
• Beta-Carotene supplements
• Chloroquine
• Fluids and glucose to boost Carb levels, which helps to limit the production of porphyrins
• Removal of blood (phlebotomy)

Depending on the type of porphyria you have, your doctor may tell you to:

• Avoid all alcohol (check, well due to med's)
• Avoid drugs that may trigger an attack (what med's I don't know)
• Avoid injuring the skin (I think you'd want to do this anyways)
• Avoid sunlight as much as possible and use sunscreen when outside (ie. become a vampire lol)
• Eat a high-carbohydrate diet

Porphyrias are life-long diseases with symptoms that come and go. Some forms of the disease cause more symptoms than others. Proper treatment and avoidance of triggers can help prolong the time between attacks.

• Coma
• Gallstones (check)
• Paralysis
• Respiratory failure (due to weakness of chest muscles)
• Scarring of the skin

Seek medical attention as soon as you have signs of an acute attack. Talk to your doctor about your risk for this condition if you have a long history of undiagnosed abdominal pain, muscle and nerve problems, and sensitivity to sunlight.
Genetic counseling may benefit people who want to have children and who have a family history of any type of porphyria.

Subtypes

Subtypes of porphyrias depend on what enzyme is deficient.

Enzyme	Associated porphyria	Type of porphyria	Inheritance	Symptoms	Prevalence
δ-aminolevulinate (ALA) synthase	X-linked sideroblastic anemia (XLSA)	Erythropoietic	X-linked
δ-aminolevulinate dehydratase (ALAD)	Doss porphyria/ALA dehydratase deficiency	Hepatic	Autosomal recessive [10]	Abdominal pain, neuropathy[10]	Extremely rare (less than 10 cases ever reported)[11]
hydroxymethylbilane (HMB) synthase (or PBG deaminase)	acute intermittent porphyria (AIP)	Hepatic	Autosomal dominant [10]	Periodic abdominal pain, peripheral neuropathy, psychiatric disorders, tachycardia[10]	1 in 10,000[12]-20,000[12]
uroporphyrinogen (URO) synthase	Congenital erythropoietic porphyria (CEP)	Erythropoietic	Autosomal recessive [10]	Severe photosensitivity with erythema, swelling and blistering. Hemolytic anemia, splenomegaly[10]	1 in 1,000,000 or less.[13]
uroporphyrinogen (URO) decarboxylase	Porphyria cutanea tarda(PCT)	Hepatic	Autosomal dominant [10]	Photosensitivity with vesicles and bullae[10]	1 in 10,000[14]
coproporphyrinogen (COPRO) oxidase	Hereditary coproporphyria(HCP)	Hepatic	Autosomal dominant [10]	Photosensitivity, neurologic symptoms, colic[10]	1 in 500,000[14]
protoporphyrinogen (PROTO) oxidase	Variegate porphyria (VP)	Mixed	Autosomal dominant [10]	Photosensitivity, neurologic symptoms, developmental delay	1 in 300 in South Africa[14] 1 in 75.000 in Finland[15]
Ferrochelatase	Erythropoietic protoporphyria (EPP)	Erythropoietic	Autosomal dominant [10]	Photosensitivity with skin lesions. Gallstones, mild liver dysfunction[10]	1 in 75,000[14]-200,000[14]
	Transient erythroporphyria of infancy			Purpuric skin lesions[16]:526

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