Clinical and Genetic Characteristics of 36 Patients with Acute Intermittent Porphyria

  Objective  To investigate the clinical and genetic characteristics of acute intermittent porphy-ria (AIP).

  Methods  Thirty-six patients diagnosed with AIP and hospitalized in Peking Union Medical College Hospital from December 2006 to October 2014 were enrolled in our study. We analyzed the clinical data of the 36 patients retrospectively, summarizing the clinical manifestations, laboratory test results, treatments and outcomes. Gene mutations of some patients were analyzed.

  Results  Among the 36 AIP patients, 32 (88.9%) were females. The average age was (27.2±6.3) years. Most of the patients visited Gastroenterology Department and Emergency Department. At presentation, 35 patients (97.2%) had abdominal pain varying in severity, 30 (83.3%) manifested obvious neuropsychiatric symptoms and 13 (36.1%) complained of dark-colored urine. Positive urinary porphobilinogen (PBG) in onset was of diagnostic value. In addition, the number of patients having anemia, abnormal liver function, or hyponatremia was 28 (77.8%)each. Eight patients who received genetic testing were detected with mutation at different sites in the gene coding porphobilinogen deaminase (PBGD).

  Conclusions  Most of the AIP patients in our study were females of childbearing age. The main manifestations are abdominal pain, neuropsychiatric symptoms, and dark-colored urine. Urine PBG test is helpful in diagnosis. Genetic detection of patients and their families is highly important for the diagnosis and family screening of this condition. Early recognition, intervention and family screening may improve the prognosis of AIP patients.