Porphyria

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Porphyria
Body Parts: Whole Body
Medical Subjects: Skin
Overview

What Is Porphyria

What are the porphyrins in porphyria?

Porphyrin is an organic compound that widely exists in important organelles related to energy transfer in organisms, and is an essential substance in the synthesis of heme.

What disease is porphyrin disease?

Porphyrin disease, also known as purple disease or hemoviolosis, is a blood system disease that damages cells or tissues due to disorder of heme synthesis. The normal synthesis of heme requires the participation of a variety of enzymes. When these enzymes are absent, porphyrin or its precursor substances cannot be normally metabolized and accumulated in the body. These substances can be accumulated in the bone marrow or liver, causing damage to the nervous system, autonomic nervous system, and skin.

Why are people with porphyria called vampires?

In fact, the prototype of the legendary vampire is likely to be porphyria, this is because the clinical symptoms of patients with porphyria and western legend super natural biological vampire there are many common features, such as pale skin, need to supplement blood treatment, afraid of the sun, and so on.

Is porphyria common?

Porphyria is a very rare disease. According to the reports, the incidence rate is (0.1–1)/100,000.

At what age does porphyria often occur?

The onset age of porphyria is usually in the range of 20–40 years old, and more in women than men.

What are the types of porphyria?

Due to different enzyme deficiencies, porphyria can be divided into many types, of which acute intermittent porphyria is the most common.

Cause

What Is The Cause Of Porphyria

What are the causes of porphyria?

Porphyria is largely due to familial inheritance. On the basis of genetic background, the typical clinical manifestations can only occur when the stimulation of factors such as alcohol, estrogen, viral infection, hexachlorobenzene and other hepatotoxic drugs are added. At present, mutated genes of multiple enzymes lacking in porphyria have been identified, so patients can be diagnosed by genetic testing.

What factors are common to the onset of porphyria?

It is now generally believed that the use of porphyrinogen drugs, excessive drinking, smoking, diet, hunger, fatigue, pregnancy, etc., as well as fluctuations in endogenous or exogenous steroid hormone levels can induce the onset of porphyria symptoms.

Symptom

What Are The Symptoms Of Porphyria

What are the common symptoms of porphyria?

The main clinical symptoms of patients with porphyria were abdominal symptoms, neuropsychiatric symptoms and skin syndrome.

  • Abdominal symptoms: It is manifested as abdominal pain. Acute and severe abdominal pain is the most common clinical symptom, which can last for several hours to several days and is often accompanied by nausea, vomiting and constipation.

  • Neuropsychiatric symptoms: At first, muscle weakness in both lower limbs can occur, and it gradually progresses to both upper limbs, followed by dysphagia, and even respiratory muscle weakness, which leads to dyspnea and is life-threatening. It can also manifest as insanity, neurasthenia, gibberish, mania, epilepsy, or even coma.

  • Skin syndrome: It is characterized by rapid phototoxic reactions on the face and other exposed parts after sun exposure, such as searing heat, sharp pain, pruritus, edema, and erythema.

Detect

How To Check For Porphyria

Why is porphyria easily misdiagnosed?

Because it is rare in clinic and the porphyrin abdominal pain mimics the visceral abdominal pain of biliary colic, intestinal colic, and renal colic, there is a high rate of misdiagnosis.

What check does porphyria diagnose need to do?

  • Generally, according to the patient's situation, porphyrin-related enzyme activity, porphyrin precursor and metabolite, blood routine test, and liver and kidney function test can be performed.

  • The urine can be red or normal in the onset of porphyria, which will turn red or even black after exposure to the sun or acid heating, showing diagnostic value.

  • Gene testing should be performed if this disease is suspected, especially in patients with a family history, because all the genes for enzymes in the human heme biosynthesis pathway have been cloned and localized, and more and more different mutation types have been found.

Prevention

How To Prevent Porphyria

How should patients with porphyria prevent recurrence?

  • In order to prevent recurrence, in addition to avoiding exposure to factors that might predispose to the onset of porphyria, patients are required to regularly monitor porphyrin concentration in urine, iron load, and liver function.

  • Patients should try to avoid exposure to light, and skin protective measures can be used when necessary. Oral administration of β -carotene in some patients can improve skin light tolerance.

  • Liver transplantation may be considered when the liver function injury progresses seriously.

Treatment

How To Treat Porphyria

Can porphyrin disease cure radically?

Unfortunately, the disease cannot be cured at present. Once porphyria is diagnosed, symptomatic treatment and prevention of recurrence are often used.

Is radical cure of porphyrin disease hopeful at present?

Bone marrow transplantation is the only known radical treatment. According to reports from abroad, more than ten patients have recovered after bone marrow transplantation. However, there seems to be no similar reports in our country.

How should porphyrin disease treat?

  • At present, there is no specific drug treatment for hematoporphyrin disease. Asymptomatic porphyria generally does not require aggressive management. When porphyria is acute, the first problem is to avoid known precipitating factors.

  • Symptomatic treatment during the acute phase includes infection control, heart rate control, correction of water and electrolyte balance disorders such as hyponatremia, ensuring energy supply, especially carbohydrate supplement, and active treatment of abdominal pain and nervous system symptoms. Intravenous infusion of 5%–10% glucose combined with high glucose diet in acute attack can quickly relieve the symptoms. When symptomatic treatment in the acute attack stage is ineffective, intravenous hemin 4–8 mg/kg body weight for 3–5 days with clinical symptoms generally improved within 48 hours is the most effective specific treatment currently.

  • In terms of surgical treatment, liver transplantation and splenectomy are often used to alleviate the condition and prevent recurrence. In addition, regular exsanguination (250~400 mL per week) seemed to prevent the onset of porphyria.

Life

What Should Porphyria Patient Notice In Life

Is porphyria easy to relapse?

In general, less than 10% of patients with porphyria will have an acute attack, about 90% of life-long. In most patients, one or more acute episodes can occur, which can lead to complete remission in the later stage, while only a few patients have repeated acute episodes.

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