Useful words
Acute – a short sharp illness that may be severe but from which most people will recover in a few weeks without lasting effects.
Acute attacks of Porphyia – almost always start with severe pain which is usually in the abdomen but may also be felt in the back or thighs. Nausea, vomiting and constipation are common. Some people may become very confused during an acute attack and later fi nd it difficult to remember details of their illness. An acute attack usually lasts or no longer than one or two weeks, but may be life threatening because of severe neurological complications like motor paralysis. Most people who have one or a few attacks of acute porphyria make a full recovery. They are then able to lead a normal life except that they need to take a few simple precautions to reduce the risk of having another attack. Women are over 3 times more likely to have an acute attack due mainly to female hormones.
Acute porphyrias – the condition mostly affects the nervous system. The skin is occasionally affected. Symptoms may include muscle pain or paralysis, seizures, disorientation, hallucination, bloody urine, hypertension and gastrointestinal problems such as vomiting, abdominal pain and constipation. Acute porphyrias generally occur during adulthood and are rare before puberty or after menopause.
Autosomal – relating to the non-sex (‘X’ and ‘Y’) chromosomes.
Biochemistry – the study of chemical substances, processes and changes that occur in living organisms.
Carbohydrate – a substance that provide energy or fuel for your body. ‘Simple’ carbohydrates are sugars, as found in fruit, honey and jam. ‘Complex’ carbohydrates are starches, as found in bread, rice and potatoes.
Chronic – an illness that lasts a long time (more than six months), possibly for the rest of a person’s life.
Cutaneous porphyrias – the condition affects the skin but not the nervous system. The skin is highly sensitive to sunlight and exposure tends to trigger symptoms within minutes. Symptoms may include red, itchy, blistered, painful and swollen skin and bloody urine. The condition may develop during childhood.
Expression – the process where information encoded in a gene is converted into the structures and functions of a cell.
Enzyme – a protein that speeds up a chemical reaction within a cell, without being changed or used up in the reaction.
Erythropoietic – relating to the formation of red blood cells (erythrocytes) in the body.
Gene – a segment of a chromosome (or unit of DNA) that carries the instructions or code for making a specific protein or set of proteins responsible for, or contributing to, a specific physical trait or action.
Hepatic – anything relating to the liver.
Inferior vena cava – the large vein that carries blood back to the heart from the lower part of the body.
Inflammation – the fi rst response of the immune system to infection, commonly characterised by heat, swelling, pain and tenderness.
Metabolic – relating to the break down and processing of substances in your body for growth and vitality.
Mutation – an occurrence where a gene undergoes a change or variation in the base sequence of its DNA. Some mutations result in the gene no longer coding for the correct protein, or producing a reduced amount of the protein.
Neurocutaneous porphyrias – the condition affects both the skin and the nervous system. Sunlight exposure tends to rapidly trigger symptoms.
Protein – the active molecule in cells that determine the physical structure of the organs and tissue that make up your body. Proteins also control the biological and chemical reactions within your body.