Dr. Tang presents a case of a 21 yo female who complains or worsening abdominal pain, ultimately diagnosed with acute intermittent porphyria.
Learning topics:
1. How do we approach ovarian masses?
Assess risk based on appearance of mass on imaging. High risk masses have solid, nodular, thick septations; low risk are anechoic unilocular fluid filled cysts with thin walls
Size of an ovarian mass does matter for risk of development of symptoms, rupture or torsion
Simple cysts <3cm in diameter are considered to be normal physiologic cysts
Premenopausal vs. postmenopausal status - postmenopausal women have higher decree of suspicion than premenopausal, and therefore more frequently require evaluation of tumor markers and surgical exploration
Premenopausal women - surveillance okay in patients with masses of intermediate and low risk appearance on imaging. Recommendations to obtain CA 125 ONLY in patients with ultrasound suspicion of malignancy (low specificity in this age group)
IF the mass is associated with acute pelvic or abdominal pain, the differential diagnosis may include torsion, rupure of cyst, ruptured ectopic pregnancy, or tubo-ovarian abscess
In the setting of ovarian cysts - these can cause pain or pressure symptoms, but most are transient and symptoms will resolve as the cyst resolves. These can be managed with analgesics or OCPs if they are recurrent
2. What is acute intermittent porphyria?
Autosomal dominant disorder with low penetrance (therefore a wide range of vague symptoms), with acute neurovisceral porphyria
Partial deficiency of the heme enzyme porphobilinogen (PBG) deaminase --> leads to build up of PBG in cytoplasm
Exacerbated by meds, smoking, alcohol, gasting, stress
Typically presents with abdominal pain (earliest), and can also lead to sensory and motor neuropathy
Autonomic dysfunction --> hypertension, tachycardia, diaphoresis, insomnia
Neuropsych disturbances --> hallucinations, insomnia, restlessness, agitation
Porphyrins in urine --> "port wine colored" urine
CNS involvement --> PRES, SiADH, seizure
3. How do we diagnose AIP?
Urine porphobilinogen - highly sensistive and specific for acute porphyria
To differentiate the type of porphyria, have to check types of porphyrins
4. How do we treat AIP?
IV hemin: downregulates enzyme for step of heme biosynthesis
Glucose/carb loading if hemin isn't available