Porphyria is a group of rare inherited conditions that interfere with the body's ability to normally make heme, a critical component of hemoglobin. Hemoglobin is the protein in the blood that transports oxygen, and when heme synthesis goes wrong, it leads to the buildup of porphyrins, naturally occurring chemicals that trigger a range of signs and symptoms, depending on the type of porphyria.
Porphyrias come under two general categories: acute and cutaneous. The acute porphyrias involve the nervous system, while the cutaneous porphyrias involve the skin. The symptoms and cause of the condition should be known in order to diagnose the condition in its early stage.
Causes of Porphyria
Porphyria is mainly a hereditary disease, hence it is inherited by one or both parents. Certain gene mutations hinder the function of the body in producing enzymes that are needed in heme synthesis. Environmental factors tend to trigger the symptoms in individuals who carry the gene mutation.
Common causes include:
- Specific medications (such as sulfa drugs or barbiturates)
- Alcohol consumption
- Hormonal changes (such as those experienced with menstrual cycles)
- Severe dieting or fasting
- Infections and stress
Because of these potential triggers, porphyria patients may experience intermittent, varying levels of symptoms.
Symptoms of Porphyria
The signs and symptoms of porphyria depend on whether you have acute or cutaneous porphyria.
Acute Porphyria Symptoms:
Acute porphyric attacks usually develop suddenly and, if not treated promptly, are potentially dangerous. They consist of:
- Severe stomach pain
- Nausea and vomiting
- Increased heart rate and hypertension
- Muscle weakness or paralysis
- Seizures and confusion
- Dark urine
Cutaneous Porphyria Symptoms
Cutaneous porphyria primarily affects the skin, resulting in:
- Severe sensitivity to sunlight
- Severe blisters or rashes on sun-exposed regions
- Skin fragility and scarring
- Increased growth of hairs on affected areas
- Skin colour or pigment alterations
Since the symptoms of porphyria resemble those of other conditions, it is essential a dermatologist in Houston to examine for accurate diagnosis.
Contact Heights Dermatology in Houston Today
If you suspect you have porphyria or you've been experiencing unusual skin reactions, Heights Dermatology is here to help. We have experts who handle complex skin issues, so you will be handled by professionals who deliver care tailored to your needs. Schedule an appointment with Heights Dermatology today and start your path to learning about and managing your skin.