How to Treat porphyrias

How to Treat porphyrias

Introduction

Porphyrias are caused by what?

The majority of porphyrias are caused by gene mutations. Some porphyrias are caused by inheriting a gene mutation from one parent, whereas others are caused by inheriting two gene mutations, one from each parent.

Many persons with acute porphyria gene mutations do not acquire the condition. Factors that increase the likelihood of experiencing acute porphyria attacks or make them worse in patients with certain gene mutations include

female sex hormones, particularly progesterone; various drugs, including hormonal birth control and certain antibiotics, anesthetics, and anticonvulsants—medicines used to treat seizures; and reduced carbohydrate intake as a result of fasting, dieting, illness, or bariatric surgery
drinking alcohol, particularly binge drinking, defined by the National Institute on Alcohol Abuse and Alcoholism as four or more drinks in about two hours for women and five or more drinks in about two hours for males

Porphyria cutanea tarda is the most frequent type of porphyria, which means that it is caused by sources other than inherited genes. These elements may include

heavy alcohol drinking, which the National Institute on Alcohol Abuse and Alcoholism defines as more than 14 drinks per week for men and more than 7 drinks per week for women smoking viral infections, such as hepatitis C and HIV infections taking estrogen, which may be found in medicines such as birth control pills and hormonal replacement therapy In rare situations, an inherited gene mutation, together with one or more of the conditions indicated above, contributes to porphyria cutanea tarda.

How are porphyrias diagnosed?

Your doctor will ask you questions about your medical history and symptoms, as well as do a physical exam. If your doctor suspects you have porphyria, he or she will conduct testing to confirm the diagnosis.

Porphyria testing
Porphyria tests evaluate the levels of porphyrins and porphyrin precursors in your blood, urine, or stool and are used to diagnose and monitor the disease. More testing may be required to determine the type of porphyria you have.

Genetic examinations

Genetic testing are used to look for gene mutations that cause porphyrias. The test may assist confirm the diagnosis and identify the gene mutation you have.

If you have a mutation, your doctor may advise you to test your family members for the same mutation. If you or a family member is thinking about genetic testing, you should think about genetic counseling. Genetic counseling can assist you and your family in understanding how the findings of your tests may affect your lives.

How are porphyrias treated by doctors?

The type of porphyria you have and the severity of your symptoms will determine how you are treated.

Porphyrias Acute

Acute porphyria attacks are typically treated in a hospital by doctors. Medication may be used to treat the condition, which usually relieves symptoms in 3 or 4 days.

Your doctor may advise you to take certain precautions to avoid future attacks.

• Avoiding drugs that are harmful to porphyria patients Before taking any over-the-counter or prescription medications, nutritional supplements, or complementary or alternative therapies, such as herbal or botanical medicines, see your doctor.
• Consuming a well-balanced diet while avoiding fasting or severe diets
• Refraining from smoking
• Avoiding excessive alcohol consumption Experts advise ladies to limit their alcohol consumption to one drink per day and men to two drinks per day.
• Medications to help lessen the frequency of subsequent attacks Some medications used to minimize the number of episodes can be expensive. Discuss your health insurance coverage with your doctor.

Doctors may recommend a liver transplant in exceptional instances. A liver transplant is only recommended if a person suffers frequent, severe episodes and other treatments have failed.

If you have a kind of acute porphyria that involves skin symptoms, treatment may include sun protection.

Porphyrias of the skin

If you have cutaneous porphyria, your doctor will advise you on how to protect your skin from the sun. Various kinds of cutaneous porphyria may require different therapies.

Porphyria cutanea tarda is commonly treated by phlebotomy, which includes draining around a pint of blood every two weeks until iron levels in the body have been decreased, or with medications. Doctors will prescribe regular blood tests to assess your iron and porphyrin levels during treatment.

Most people achieve remission after therapy, which means they no longer have symptoms when their skin is exposed to sunlight and their porphyrin levels return to normal. Doctors also advocate avoiding or removing elements that can trigger porphyria cutanea tarda to help people enter and stay in remission.
For erythropoietic protoporphyria, doctors may prescribe medication that allows patients to spend more time in sunshine without experiencing pain.
Doctors may consider a bone marrow transplant using healthy stem cells from a donor for some children with congenital erythropoietic porphyria who have severe symptoms.

Conclusion

We have been able to see here that The majority of porphyrias are caused by gene mutations. Some porphyrias are caused by inheriting a gene mutation from one parent, whereas others are caused by inheriting two gene mutations, one from each parent. If you have any questions or concerns about what is written here please comment in the discussion below. contact us Rovich Diagnostic Services for consultancy.