Hepatic porphyria syndrome

　　Hepatic porphyria syndrome is an autosomal dominant genetic disease. In the process of porphyrin metabolism and the synthesis of bilirubin, due to the lack of porphobilinogen synthase, porphobilinogen cannot be metabolized and accumulates in the body, reducing the synthesis of bilirubin. Through feedback, the activity of delta-aminolevulinic acid synthase increases, resulting in an increase in delta-aminolevulinic acid and porphobilinogen in the body. Their increase can exert toxic effects on neurotransmission function through direct or indirect mechanisms, thereby causing the onset of this disease.

　　In addition to relying on clinical manifestations, auxiliary examinations are also needed for the diagnosis of hepatic porphyria syndrome. Hepatic porphyria syndrome can cause water and electrolyte disorders, which should be highly regarded by clinical doctors and patients.

　　Due to the relative rarity of hepatic porphyria syndrome and the lack of specific symptoms, it often leads to misdiagnosis, which can be misdiagnosed as cholelithiasis, ulcer disease, and various neurological and psychiatric diseases. There are reports that the misdiagnosis rate can reach 73%. Therefore, the key to diagnosing this disease is to enhance vigilance. The clinical manifestations of this disease vary greatly, with intermittent attacks of severe abdominal colic and neurological and psychiatric symptoms as the characteristic, which can be induced by the administration of barbiturates, sulfonamide drugs, or stress states. Abdominal symptoms are characterized by severe colic, accompanied by constipation, nausea, vomiting, and resembling acute abdominal symptoms. However, the pain is not localized, nor is there rebound pain or muscle tension in the abdomen. Peripheral motor nerve disorder is manifested by weakness, paresis, and even flaccidity of the limbs. Psychiatric symptoms include depression, confusion, and hallucinations. Symptoms often recur acutely and can last for several to ten or more days. In addition, there may be symptoms of autonomic nervous system dysfunction, such as tachycardia, hypertension, urinary retention. Due to the increased excretion of delta-aminolevulinic acid and porphobilinogen from the kidneys, exposing the patient's urine to sunlight can turn it red or tea-colored, which is an important characteristic of this disease.

　　For the prevention of hepatic porphyria syndrome, it is recommended to reduce skin damage, avoid sunlight exposure and trauma, and wear protective clothing. Try to avoid triggers, such as overwork, mental stimulation, hunger, infection, and alcohol prohibition, etc.

　　The examination of hepatic porphyria syndrome includes increased excretion of uroporphyrin in 24-hour urine, increased coproporphyrin excretion, increased δ-aminolevulinic acid in 24-hour urine, and decreased activity of erythrocyte uroporphyrinogen synthase (normal > 30 mmol porphyrin/1ml erythrocyte/h).

　　The diet of patients with hepatic porphyria syndrome should be regular and reasonable, mainly high-protein and high-vitamin foods. Choose high-nutritional value plant or animal proteins, such as milk, eggs, fish, lean meat, various bean products, etc. Various fresh vegetables and fruits are rich in vitamins and have high nutritional value.

　　Western medicine treatment for hepatic porphyria syndrome:

　　1. Symptomatic treatment and prevention of recurrence:Reduce skin damage, avoid sunlight exposure and trauma, and wear protective clothing. Take oral beta-carotene or riboflavin, or take atropine every other day.

　　2. Try to avoid triggers:Such as overwork, mental stimulation, hunger, infection, alcohol prohibition, etc.

　　3. Hormonal Therapy:In a small number of cases with acute attacks clearly related to the menstrual cycle, androgen, estrogen, or oral female contraceptives are effective, but they can cause persistent hypertension with an unknown mechanism. Patients with orthostatic hypotension use prednisone.

　　4. Correct water and electrolyte imbalances.