Porphyria can be difficult to diagnose, because the symptoms can mimic any number of conditions. The doctor will be able to see certain signs when he/she examines the patient. At first glance, the abdominal and pelvic pain associated with some types of porphyria might be mistaken for appendicitis, Guillian-Barre syndrome, or lead poisoning. A urinalysis can give the attending physician a clue that something is definitely wrong, because one of the symptoms of porphyria is red colored urine. The classic sign of red urine will give the doctor a clue to order blood tests specific enzyme formation.
Tests to diagnose porphyria
The doctor will start out with a physical exam and then proceed to order blood tests. The lab tests that may be ordered could include:
BUN (Blood Urea Nitrogen) – This test measures the amount of urea nitrogen in the blood. Urea nitrogen is a byproduct of protein when it is metabolized. If the kidney is affected by porphyria, the BUN will be elevated.
ABG (Arterial blood gases) – A person with porphyria is likely to suffer from hypoxemia (low oxygen level in the blood).
Liver function tests – There are likely to be liver function abnormalities in people suffering from some types of porphyria.
Creatinine clearance – This is a test that compares the creatinine level of the blood with the creatinine level in the urine. Creatinine is a byproduct of creatine (a compound synthesized by the body to help store energy). This test is done to evaluate kidney function. The creatinine level may be elevated in a person with porphyria.
Serum electrolytes (potassium and sodium) – Potassium is needed by the body so that the muscles and nerves can communicate with each other. People with porphyria may have an elevation in their serum sodium level and a slightly low level of potassium.
Porphyrin tests – These are special blood tests to measure the level of porphyrin in the blood.
Urinalysis – The color of the urine will likely be red if a person has porphyria. The urinalysis can give an indication about kidney function. Through testing, the particulate in the urine can be determined to be normal or abnormal.
Treatment options for porphyria
Since porphyria isn’t just one disease, the treatment options may differ from one type of porphyria to another. The patient may need to be hospitalized and given IV fluids and medications to slow down the production of porphyrin. The medications will be specific for the type of porphyria. A diet rich in carbohydrates may also be advised. It is important for a person with porphyria to avoid low calorie diets and fasting, because this could trigger an attack.
Porphyria is characterized by a deficiency of an enzyme in porphyrin. Porphyrin is needed by the body to synthesize heme, which gives our blood cells and bone marrow its red color. Heme is synthesized in a multi-step process; thus, people with porphyria lack the enzymes that are needed to complete the synthesis of heme. The body creates more porphyrin than it needs to compensate for the lack of the enzyme needed, which causes an overabundance of porphyrins in the body.
Certain drugs, alcohol, and hormones could possibly trigger an attack of porphyria. Infections may also trigger an attack in the acute forms of porphyria. People with certain types of porphyria can have attacks of severe pain, nausea, and vomiting. Being out in the sun can cause pain on the skin. Blistering of the skin can cause permanent disfiguring of the skin. People who are sensitive to the sun should use sunscreen and wear protective clothing when outside in the sun.