Hepatic Porphyria Syndrome, also known as Waldenstrom syndrome or Acute Intermittent Porphyria (AIP), is a syndrome caused by metabolic disorders of porphyrin in the liver, characterized by intermittent episodes of abdominal pain, vomiting, constipation, and neuropsychiatric symptoms. It predominantly occurs in young adults.

bubble_chart Pathogenesis

This disease is an autosomal dominant genetic disorder. In the process of porphyrin metabolism synthesizing bilirubin, due to the deficiency of porphobilinogen synthase, porphobilinogen cannot be metabolized and accumulates in the body as an abdominal mass, leading to reduced bilirubin synthesis. This can increase the activity of δ-aminolevulinic acid synthase through feedback mechanisms, resulting in elevated levels of δ-aminolevulinic acid and porphobilinogen in the body. Their accumulation can exert toxic effects on neural transmission functions through direct or indirect mechanisms, thereby triggering the onset of the disease.

bubble_chart Clinical Manifestations

The clinical manifestations of this disease vary widely, characterized by intermittent episodes of colicky pain in the lower abdomen and neuropsychiatric symptoms. It can be induced by the use of barbiturates, sulfonamides, or stressful conditions. Abdominal symptoms include severe colicky pain accompanied by constipation, nausea, and vomiting, resembling acute abdominal conditions, but the abdominal pain lacks a fixed location and does not exhibit rebound tenderness or muscle rigidity. Peripheral motor nerve disturbances manifest as weakness, mild paralysis, or even flaccid paralysis in the limbs. Psychiatric symptoms include depression, confusion, and hallucinations. Symptoms often recur in acute episodes, lasting from several days to over ten days. Additionally, autonomic dysfunction may occur, such as tachycardia, hypertension, and urinary retention. Due to increased renal excretion of delta-aminolevulinic acid and porphobilinogen, exposing the patient's urine to sunlight can turn it red or tea-colored, which is a significant characteristic of this disease.

Laboratory tests show increased excretion of urinary uroporphyrin and coproporphyrin in 24-hour urine. There is also an increase in urinary porphobilinogen and δ-aminolevulinic acid over 24 hours. Measurement reveals a deficiency of uroporphyrinogen I synthase in red blood cells (normal >30 mmol porphyrin/1 ml red blood cells·h).

bubble_chart Diagnosis

Since this disease is relatively rare and its symptoms are not specific, misdiagnosis often occurs, such as being mistaken for gallstones, ulcer disease, and various neuropsychiatric conditions. Reports indicate a misdiagnosis rate as high as 73%. Therefore, the key to diagnosing this disease lies in maintaining a high level of suspicion for it.