In a recent article, English entertainer Tommy Steele has revealed what it was like being diagnosed with porphyria at a young age.
Porphyria is a group of disorders that are characterized by an accumulation of chemicals that are responsible for the production of porphyrin, which is necessary for the function of hemoglobin. High levels of porphyrin can lead to issues in the skin and nervous system.
There are two forms of this disorder: acute and cutaneous. The former affects the nervous system and the latter affects the skin.
Symptoms:
Symptoms vary depending on the type of porphyria one has. Symptoms of acute porphyria include:
- Pain in the abdomen, chest, legs, and back
- Constipation
- Diarrhea
- Nausea
- Vomiting
- Pain, tingling, paralysis, numbness, and weakness in the muscles
- Discolored urine
- Mental changes
- Breathing issues
- Urination issues
- Heart palpitations
- High blood pressure
- Seizures
Symptoms of cutaneous porphyria occur when people are exposed to sunlight, and include:
- Burning pain caused by exposure to sunlight or possibly artificial light
- Sudden, painful swelling and redness of the skin
- Blisters on exposed skin
- Itching
- Excessive hair growth
- Discolored urine
- Fragile, thin skin when skin color changes
There are also complications that can result from this condition. Acute porphyria can be life-threatening if an attack is not treated properly. Long term complications include chronic pain, chronic kidney failure, and liver damage. Complications of cutaneous porphyria are permanent scarring and skin damage.
Causes:
Issues with the production of heme result in porphyria. In order to produce heme, eight enzymes are required. A lack of one of these enzymes results in both types of porphyria.
The majority of cases of this condition are inherited. They can be inherited in both an autosomal dominant and autosomal recessive patterns.
There are also risk factors that can trigger the genetic components of porphyria. Triggers can be exposure to sunlight, certain medications, recreational drugs, diets or fasting, smoking, physical or emotional stress, alcohol use, and menstrual hormones.
Treatments:
Treatment for this condition consists of avoiding triggers and managing symptoms. Avoiding triggers entails not using certain medications, avoiding recreational drugs and alcohol, not smoking, no fasting or dieting, taking hormones for menstrual issues, avoiding sun exposure, reducing emotional and physical stress, and treating any other illnesses quickly.
Treatment that is specific to the acute form of this condition consists of injections of hemin, sugar taken through mouth or IV, and hospitalization for severe symptoms.
Treatment for cutaneous porphyria may entail periodically drawing blood, hydroxychloroquine, and vitamin D supplements.
Tommy Steele
As a child, English singer and actor Tommy Steele was diagnosed with porphyria. The condition is one that also affected King George III, and some attribute porphyria with being the reason he “went mad.” When he was first diagnosed, he and his mother were worried about what it would do to him, especially since the condition is not curable. Luckily, in Steele’s case, he never experienced any of the mental changes that can come with porphyria, such as hallucinations, disorientation, and paranoia. This led doctors to diagnose him the cutaneous porphyria rather than acute porphyria.
After dealing with the symptoms of the condition for nine months, Steele was then hit with pneumonia and spinal meningitis. The combination of all his illnesses led him to spend about 4 years in and out of the hospital. However, after this spell of illness, Steele was never ill again after. Now, at the age of 85, Tommy Steele is still physically and mentally well.
