परिभाषा

Porphyria is a group of disorders. The all lead to a build up of porphyrins in the body. Porphyrins help to make a part of the red blood cell. However, excess amounts of porphyrins can cause damage to your body. It most often affects the nervous system and skin.

आनुवांशिक असामान्यता

Some porphyria disorders include:

  • Acute Intermittent Porphyria
  • Porphyria Cutanea Tarda
  • Erythropoietic Protoporphyria
  • Congenital Erythropoietic Protoporphyria—present from birth

का कारण बनता है

Most types of porphyrias are inherited through genes. They may be passed on by one or both parents.

जोखिम कारक

Factors that may increase you chance of porphyria include:

  • Having a family member with this disease—most common risk
  • Caucasians are at greater risk than Blacks or Asians
  • Sex: female (related to the menstrual cycle)

Porphyria attacks may be triggered by:

  • ड्रग्स
  • संक्रमणों
  • Alcohol consumption
  • Dieting
  • धूम्रपान
  • तनाव

लक्षण

Some types of porphyria start in early childhood, some at puberty, and others during adulthood. Attacks may be separated by long periods of time.

Porphyria can cause skin or nervous system problems. Urine may also be reddish in color or darken after standing in the light. Other specific symptoms will depend on the type of porphyria.

Acute Intermittent Porphyria (AIP)

Nervous system symptoms occur most often after puberty. Nerves of the intestines can cause gastrointestinal problems. Attacks can last from days to weeks. Symptoms of future attacks resemble the initial episode and may include:

  • Abdominal pain and cramping
  • समुद्री बीमारी और उल्टी
  • कब्ज़
  • Pain in limbs, head, neck, or chest
  • Impaired movement
  • तीव्र हृदय गति
  • साँस लेने में समस्या
  • बरामदगी
  • Painful urination or urinary retention
  • Mental symptoms such as:
    • व्यवहार परिवर्तन
    • दु: स्वप्न
    • अवसाद
    • चिंता
    • अनिद्रा
    • भ्रम
    • Psychotic episodes

Porphyria Cutanea Tarda (PCT)

This is the most common porphyria. Most are not inherited. They are acquired at some point.

Symptoms are primarily in the skin and increase with sun exposure. Symptoms may include:

  • Fragile skin—minor injury may damage the skin
  • Blisters on the face, hands, arms, feet, and legs
  • Skin thickens and scars
  • Skin color changes
  • Red, pink, or brown urine particularly after sun exposure

Erythropoietic Protoporphyria (EPP)

Skin symptoms may occur before or during sun exposure. Symptoms include:

  • Redness or swelling, but usually no blisters
  • Itching or burning sensation
  • Long-term skin and nail changes

Congenital Erythropoietic Protoporphyria (CEP)

This form is extremely rare.

लक्षणों में शामिल हो सकते हैं:

  • Reddish urine, in infancy
  • Sun sensitivity, beginning in early infancy
  • Sun-exposed skin is fragile and may have blisters
  • Blisters open and are prone to infection
  • Skin color may change
  • Skin thickens
  • Nail changes, ridging, or absence of nail
  • Reddish-brown teeth

निदान

The doctor will ask about any symptoms. A medical and family history will be taken. A physical exam will also be done.

The symptoms can be very vague. As a result, the diagnosis is often delayed.

Tests differ for the various types. They may include blood, urine, and/or stool tests. These tests check for excess porphyrin or a specific missing enzyme. In some cases specific genetic testing may be available as well.

उपचार

For all types of porphyria, treatment includes the following:

  • Avoiding known triggers and drugs that can precipitate an attack
  • Eating a high-carbohydrate diet

Porphyria that affects the skin require special attention to protect the skin from injury and/or infection.

Additional treatment depends on the type of porphyria:

Acute Intermittent Porphyria

You may need to be hospitalized during an attack. Your doctor will work with you to determine what set off the attack. Common triggers include:

  • Drugs, such as:
    • Barbiturates
    • सल्फा ड्रग्स
    • Seizure drugs
    • Steroid hormones such as:
      • Estrogen
      • Progesterone
  • Hormonal changes related to the menstrual cycle
  • Weight-loss diets or fasting
  • संक्रमणों
  • शराब
  • तनाव
  • सर्जरी
  • सिगरेट का धुंआ

Treatment for acute intermittent porphyria may include:

  • Withdrawal or replacement of any medication suspected to be the cause
  • Medication to reduce symptoms
  • Glucose delivered by IV
  • Monitoring and treatment for side effects like heart problems, breathing difficulties, and seizures

Porphyria Cutanea Tarda

Your doctor may need to identify the triggers. Common triggers include:

  • लोहा
  • शराब
  • एस्ट्रोजेन
  • Hydrocarbons
  • Certain pesticides or chemicals

Treatment of porphyria cutanea tarda may include:

  • Avoiding:
    • सूर्य अनाश्रयता
    • Alcohol consumption
    • Iron supplement and iron rich foods
  • Blood removal weekly to monthly to reduce porphyrins in blood
  • Low doses of antimalarial drugs may reduce symptoms in some
  • Annual doctor visits for liver monitoring

Erythropoietic Protoporphyria

Primary step is to avoid or limit exposure to sunlight. Other treatment steps may include:

  • Medications to increase light tolerance such as beta-carotene
  • Medication to help remove porphyrins from body
  • Treatment for complications:
    • Blood transfusion or removal of spleen for anemia
    • लिवर प्रत्यारोपण

Erythropoietic protoporphyria may also be triggered by dieting or fasting. Your doctor will discuss a healthy diet plan.

Congenital Erythropoietic Protoporphyria

Primary step is to avoid or limit exposure to sunlight. Other treatment steps may include:

  • Medications to increase light tolerance such as beta-carotene
  • Splenectomy —removal of the spleen to reduce need for blood transfusion for anemia
  • Bone marrow transplantation

रोकथाम

Genetic testing may identify people at risk for porphyria. If there are people in your family with porphyria, you may be eligible for testing. The counselor will help find the risks for this disorder in you and your offspring.

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