Healthy Living

What Is Porphyria?

What is Porphyria? Symptoms of Porphyria

Key Takeaways

  • Porphyria is an inherited group of disorders that affect the skin and nerves. 
  • Porphyria that affects the skin is referred to as cutaneous porphyria, while the condition that affects the nerves is known as acute porphyria.
  • There is no complete cure for the disease, but lifestyle changes are helpful in controlling the symptoms.

Porphyria is an inherited group of disorders that affect the skin and nerves. Porphyria that affects the skin is referred to as cutaneous porphyria, while the condition that affects the nerves is known as acute porphyria. Both types result in the accumulation of the chemical porphyrin in the body. This condition is mostly inherited, but few environmental factors are also known to trigger the disease.

There is no complete cure for the disease, but lifestyle changes are helpful in controlling the symptoms. It is important that you seek out immediate medical attention to help control the symptoms of porphyria and to help you manage your condition better.

Porphyria is caused by an impaired production of heme, a compound that is a part of hemoglobin. Hemoglobin is the carrier of oxygen to the different parts of the body and is present in the red blood cells. If there is a shortage of any of the enzymes involved in the production of heme, the precursors of this compound start building up in the body resulting in porphyria.

The forms of the disease are caused by a shortage of specific enzymes in the process. In most cases, the shortage of enzymes is caused by a faulty gene that is inherited from one of the parents. 

Porphyria cutanea tarda, the most common form of the disease, is an acquired form of the condition. In this type of disease, the inherited faulty gene becomes active in the presence of environmental triggers such as alcohol consumption, excessive iron in the diet, certain diseases like hepatitis C and HIV, and smoking.

Acute porphyria is also triggered by certain drugs, which include barbiturates, tranquilizers, sedatives, and birth control pills. Smoking, alcohol abuse, infections, and stress are also known to make the faulty gene active in the body. So if you do have the habit of smoking and drinking, then it may be time for you to stop as these unhealthy habits can exacerbate your current condition.

Symptoms

  • Muscle weakness - is due to an electrolyte imbalance. if you are experiencing muscle weakness then it may be time for you to consult a doctor. Your current weakness could be on account of several health factors, but it is important that you seek medical attention right away. On diagnosis, your doctor would suggest a specific course of treatment to alleviate some of the symptoms and to enable you to manage your life better.
  • Chest pain if you are experiencing chest pain for no reason at all, then you need to head over to the nearest emergency room. The pain could be due to several factors. However, most chest pains are connected to your cardiovascular health. Porphyria can also cause chest pains and your doctor would run some tests to arrive at a speedy diagnosis. 
  • Pain in the abdomen - if you are experiencing sharp pains in your abdomen, then you need to consult your doctor right away. The current condition could be caused by various reasons, one of them being appendicitis. Your doctor would run several tests to confirm the main reason behind your current condition. 
  • Vomiting – if you are experiencing sudden bouts of vomiting along with the other mentioned symptoms, then chances are that you could be having porphyria. 
  • Constipation if you are experiencing constipation, then you need to consult with your doctor at the earliest as this could be indicative of something more serious like porphyria.
  • Confusion – if you are experiencing disorientation and confusion, then this could be on account of porphyria as well as several other health conditions. 
  • Back pain if you are suffering from a persistent and severe case of back pain, you need to consult your doctor right away. And when consulting with the doctor, you need to be completely upfront regarding your current health condition as it can help him diagnose your condition correctly. 
  • Seizures – if you have started experiencing seizures, you would need immediate medical attention. You need to schedule an appointment with your doctor and he would then run several tests in order to diagnose your condition correctly. Porphyria is known to cause seizures and once your doctor confirms this, he would recommend a course of treatment that can help you manage your situation better and to take control of your life as well.
  • Cramps – if you are suffering from a sudden case of cramps and they happen to be severe, then you need to see your doctor immediately. Your current condition could be caused by porphyria, which is why it is vital that you seek out medical attention right away. 

PorphyriaSymptoms

Complications

Some patients may develop chronic pain, kidney damage, depression, and liver cancer as complications. This is why it is vital that you seek a medical attention right away on noticing the symptoms. Otherwise, your condition could become steadily worse, and affect your health altogether.

Cutaneous Porphyria

Cutaneous porphyria symptoms can be seen mostly in the hands, forearm, face, ears, and neck. It may be in the form of blisters or swelling on the skin. A few people may have skin darkening and thickening as symptoms. Pain and itching are also common with this condition.

Treatment

Treatment of porphyria depends on the severity and form of the disease. Symptoms such as nausea and pain can be alleviated through usual medications. However, in many cases, hospitalization may be required. It may take weeks to months for the condition to resolve, especially in the case of acute porphyria. It is crucial that you seek out medical attention immediately since identifying it in its early stages can enable you to effectively avoid developing more severe complications of this health condition. It is important that you are totally upfront to your doctor about your current medical history and the various medications you are allergic to as it will have a bearing on your treatment and the medications your doctor may prescribe to you.

This condition can be debilitating, but treatment can effectively help when it the disease is identified during its early stages. More importantly, if you leave it undiagnosed and untreated, then your condition can get steadily worse and can even result in you ending up in the hospital. It is important that you understand all the risks associated with this condition and get it treated right away. Seek an appointment with your doctor today and apart from medications, start eating healthy as your diet can also have a beneficial effect on your current condition.