Biochemical Diagnosis of Acute Hepatic Porphyria: Updated Expert Recommendations for Primary Care Physicians
| Autor: | Jordanna Mora, Herbert L. Bonkovsky, Amy L. White, Raynah Lobo, Gary Spitzer, Silvia Tortorelli, Elizabeth L. Frank, Randolph M. Young, Karl E. Anderson, Denise Salazar, Mary Schloetter |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Acute hepatic porphyria
medicine.medical_specialty Abdominal pain Diagnostic methods business.industry Porphobilinogen Synthase Biochemical diagnosis General Medicine Primary care 030204 cardiovascular system & hematology Physicians Primary Care Porphyrias Hepatic 03 medical and health sciences 0302 clinical medicine Practice Guidelines as Topic medicine Humans 030212 general & internal medicine Symptom onset Differential diagnosis medicine.symptom Intensive care medicine Urine sample business |
| Zdroj: | The American Journal of the Medical Sciences. 362:113-121 |
| ISSN: | 0002-9629 |
| Popis: | Acute hepatic porphyria (AHP) is a group of rare, metabolic diseases where patients can experience acute neurovisceral attacks, chronic symptoms, and long-term complications. Diagnostic biochemical testing is widely available and effective, but a substantial time from symptom onset to diagnosis often delays treatment and increases morbidity. A panel of laboratory scientists and clinical AHP specialists collaborated to produce recommendations on how to enhance biochemical diagnosis of AHP in the USA. AHP should be considered in the differential diagnosis of unexplained abdominal pain, the most common symptom, soon after excluding common causes. Measurement of porphobilinogen (PBG) and porphyrins in a random urine sample, with results normalized to creatinine, is recommended as an effective and cost-efficient initial test for AHP. Delta-aminolevulinic acid testing may be included but is not essential. The optimal time to collect a urine sample is during an attack. Substantial PBG elevation confirms an AHP diagnosis and allows for prompt treatment initiation. Additional testing can determine AHP subtype and identify at-risk family members. Increased awareness of AHP and correct diagnostic methods will reduce diagnostic delay and improve patient outcomes. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|