Porphyria: Types, Symptoms, Risk Factor, Causes, Diagnosis & Treatment

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Porphyria

What Is Porphyria?Porphyria is a group of blood disorders that affect the skin and nervous system. People with these disorders have difficulty in producing heme, a component of haemoglobin made up of porphyrin chemical. The lack of heme productions causes porphyrin to accumulate in tissues and blood, which may cause a variety of health issues.There are various types of porphyria which are classified in the following categories:

Hepatic: Porphyria disorders which are caused by liver problems fall into the hepatic category. In this condition, the liver starts producing too many porphyrins and porphyrin precursors.

Erythropoietic: When porphyria is due to problems in red blood cells, they are erythropoietic forms.

Based on the above-listed categories, specific names of the eight types of porphyrias are:

Delta-aminolevulinate-dehydratase deficiency porphyria

Acute intermittent porphyria

Hereditary coproporphyria

Variegate porphyria

Congenital erythropoietic porphyria

Porphyria cutanea tarda

Hepatoerythropoitic porphyria

Erythropoietic protoporphyria

Porphyria SymptomsThe symptoms depend on the types of porphyria disorder. The common ones include severe abdominal pain and change in urine colour. Hepatic porphyria symptoms are as follows:

Pain in limbs

High blood pressure

Neuropathy

Fast heart rate

Electrolyte imbalance

Erythropoietic porphyria symptoms are as follows:

High sensitivity of skin to light

Changes in skin pigmentation

Anemia

Who Is At Risk?The risk factors associated with porphyria disorders are both genetic and lifestyle habits. They can also trigger certain symptoms of porphyria. Some of the common ones include:

Family history of porphyria

Smoking and drinking alcohol

Exposure to sunlight

Certain medications

Chronic hepatitis C

High level of iron in body

Physical stress, such as infections or other illnesses or emotional stress

Dieting or fasting

Porphyria CausesIrrespective of the types of porphyria, the common root behind the disorder is trouble in producing heme. Here are two common porphyria causes:

Genes: These disorders are mostly caused by genetic mutations. This means that if one or both of the parents may have passed on a mutated gene, the child can suffer from porphyria disorder. In some cases, the person never experiences any symptoms.
Acquired Forms: At times, porphyria disorder is acquired rather than inherited. One such type is Porphyria cutanea tarda (PCT). The symptoms are usually triggered by liver disease, estrogen medication, smoking or excessive alcohol use.

How Is Porphyria Diagnosed?Since porphyria is rare and can have various signs and symptoms, it is a bit difficult to diagnose the condition. A porphyria diagnosis, thus, involves a number of tests and examinations for an accurate evaluation. Some of the tests that may be conducted by the doctors are:

Combination of urine, stool and blood test

Genetic testing with a blood sample

The best time for a porphyria test is when you experience the symptoms. This will help the doctor is easily determining the type of disorder.How Is Porphyria Treated?There is no cure for porphyria disorder. The treatment focuses on managing the symptoms and avoiding the potential triggers. Here is what you can expect during your porphyria treatment:

Medication: Depending on the types of porphyria disorder, the doctors may prescribe different medications to control and relieve the symptoms. The doctors may also recommend supplements or blood transfusions in some cases.
Surgery: If it is a case of acute porphyria with severe symptoms, surgery of the liver or bone marrow transplantation can also be considered as treatment options.
Lifestyle Changes: The doctors will advise the patient to avoid triggers that can lead to the onset of symptoms. Some of the lifestyle changes are quitting alcohol and smoking, minimising exposure to the sun, treating infections and stop fasting.

An early diagnosis and timely treatment can help you lead a relatively normal life. If you are someone who is looking for porphyria treatment, it is advised that you consult a haematologist who is specialised in conditions related to the blood and blood-producing organs. Here at Care.Fit, we have a team of experienced haematologists who offer the best treatment options. Check our website or app to book an online consultation.How Can Porphyria be Prevented?Preventing porphyria is not possible. However, you can avoid the triggers to keep a tab on the symptoms in case you have the disorder. Other than that, if someone in your family is diagnosed with porphyria, you can consider getting a diagnosis as well since this is an inherited disorder.

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