General Introduction of Porphyria

Porphyria is a rare disorder caused by abnormalities in the accumulation of natural chemicals, namely porphyrins, a molecule that is responsible for the binding of oxygen to iron in blood (Rastogi & Dwivedi, 2006).  In other words, a person with porphyria has excessive amount of porphyrin in their body as compared to normal people.  Porphyrins play an important role in the functioning of haemoglobin, a protein in red blood cell.  People with porphyria face difficulty in changing porphyrin into heme, a substance that turns blood into red colour by binding blood and oxygen molecule (Fuller & Wiley, 2013). 

Figure 1. Original structure of porphyrin

Figure 2. The process of changing porphyrins into heme

The occurrence of porphyria is very uncommon.  According to Wright (2015), the cases of porphyria occur in the rate of one out of 75, 000 people.  Porphyria is a hereditary disease, it is normally inherited from one or both parent (Dombeck & Satonik, 2005; Mayo Clinic, 2014).  However, environmental factors such as alcohol, smoking and hormones can strongly influence the occurrence and severity of porphyria.  Both factors must be present in order to trigger the disorder, merely genetic cannot cause the signs or symptoms of the disorder to occur.  British Porphyria Association (2016) also supports the statement, they mention that people with merely genetic factor are asymptomatic in many case studies.

There are eight types of porphyria that have been identified until today, but are all categorize into acute and cutaneous porphyrias based on a person’s symptoms (Wright, 2015).  Acute porphyrias affect the nervous system, especially the liver. The acute attack happens quickly for a short period.  On the other hand, cutaneous porphyrias will cause lesions on the skin (Pierach, 2011; Bonkovsky, 2014). The signs and symptoms of porphyria can vary, depending on the specific type and severity. Nonetheless, the general symptoms of porphyria include severe abdominal or stomach pain along with constipation and vomiting, sensitivity to sun or light which lead to burning pain on skin, abnormal coloured urine, usually red or brown (Mayo Clinic, 2014). Generally, urine test is used to diagnosed porphyria (McPherson & Ben-Ezra, 2011) whereas treatments will be determined by the type of porphyria that the individuals have. Although porphyria usually cannot be cured, but changes in lifestyle can help in reducing the symptoms. 

Figure 3. Type of acute and cutaneous porphyrias and the deficiency in enzyme