Hepatic Porphyria Syndrome, also known as Waldenstrom Syndrome or Acute Intermittent Porphyria (AIP), is a condition caused by metabolic disturbances of porphyrin in the liver. It manifests as a series of symptoms including intermittent abdominal pain, vomiting, constipation, and neuropsychiatric symptoms. The disease predominantly affects young and middle-aged adults.

bubble_chart Etiology

This disease is an autosomal dominant genetic disorder. In the process of porphyrin metabolism synthesizing bilirubin, due to a deficiency of porphobilinogen synthase, porphobilinogen cannot be metabolized and accumulates in the body, leading to reduced bilirubin synthesis. This reduction 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 through direct or indirect mechanisms, thereby triggering the onset of the disease.

bubble_chart Clinical Manifestations

The clinical manifestations of this disease vary greatly, characterized by intermittent episodes of colicky pain in the lower abdomen and neuropsychiatric symptoms. It can be induced by taking barbiturates, sulfonamides, or stress. Abdominal symptoms include severe colicky pain accompanied by constipation, nausea, and vomiting, resembling acute abdominal conditions, but the abdominal pain has no fixed location, nor rebound tenderness or muscle rigidity. Peripheral motor nerve disorders manifest as weakness in the limbs, mild paralysis, or even flaccid paralysis. Psychiatric symptoms include depression, confusion, and hallucinations. Symptoms often recur in acute episodes, lasting from several days to more than 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 very important feature of this disease.

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 disorders. Reports indicate a misdiagnosis rate as high as 73%. Therefore, the key to diagnosing this disease lies in maintaining a high level of suspicion.