A 16 years old female, was referred to Pakistan Institute of medical sciences Islamabad, from a private setup in Gilgit Baltistan for management of acute abdominal pain.
She developed severe abdominal pain while on her way to the school and was perfectly alright before that. There was no history of nausea, vomiting, dyspepsia or fever associated with the abdominal pain.
On Examination …
Examination at the time of arrival was unremarkable except for diffusely tender abdomen. While she was investigated, supportive treatment in the form of intravenous fluids, proton pump inhibitors and antibiotics were started.
Laboratory Investigations …
Her laboratory investigations were unremarkable except for a White blood cell count of 11000/mcl. Her ultrasound abdomen and x-ray erect abdomen was also unremarkable.
CECT abdomen and pelvis showed non-specific mesenteric lymphadenopathy. During her stay in the hospital, she developed generalized tonic-clonic seizures. Her blood sugars and serum calcium levels were done which were normal but she had severe hyponatremia of 105 mEq/L. The neurology department was consulted and she was started on anti-epileptics. For workup of hyponatremia, a medical consult was sought.
Before going on to the workup advised by the medical team, lets scratch our heads to diagnose this patient.
Questions …
- What workup may be advised at this stage?
- What is the possible diagnosis?
- How will you manage this patient?
Students should try to make a diagnosis or differential diagnosis before reading the discussion below.
Follow-up of our patient with abdominal pain…
When we first saw the patient, she was afebrile, conscious and obeying commands at that time. She had a soft and non-tender abdomen. The following things were kept in mind while we started investigating her:
- What is the cause of hyponatremia? Is it renal wasting or a gut pathology? Is it SIADH?
- What is the underlying diagnosis?
Her urinary and serum electrolytes were sent which suggested SIADH (high urinary sodium, low plasma osmolality, and high urinary osmolality. She was started on a calculated dose of hypertonic saline and free water restriction.
Since a surgical cause of the acute abdomen was ruled out, and medical causes of the acute abdomen are very few, acute intermittent porphyria was our presumptive diagnosis. The patient was asked to collect her urine and keep it in sunlight for sometimes. Her urine for porphobilinogen was also sent.
Urine color of the patient turned reddish-brown on exposure to sunlight and her urine for PBG was strongly positive as well.
She was started on dextrose water with saline and her anti-epileptics were stopped. She rapidly improved and was discharged with instructions to avoid certain medications.
1- serum amylase and lipase, urinary sodium levels, urinary porphobilinogen levels, workup for vasculitis.
2-pancreatitis, porphyria.
3-acute managment: hypertonic saline and water restriction.
Its AIP abdominal pain plus seizures points towards diagnosis. Treat the hyponatremia with 3% saline and desmopressin.
And definitive treatment 10 percent glucose infusion or hematin solution.
Acute Intermittent Porphyria
Acute Intermittent Porphyria…
need history , drug history special ,
my diagnosis or diffrential will include
lead intoxication , SIADH primary or secondary ,
investigations I ll need peripheral smear , lead levels , repeat metabolic pannel, electrolytes , stool RE, baselines , Cxr !!
managment 3% saline with close monitoring of rate , if disgnosed with lead chellate her , if fever look for infection antibiotics
No history of ingestions or drug intake.
Labs were normal other than hyponatremia. If you are interested in specific tests please mention. Cxr, stool r/e for what?
This is acute intermittent porphyria.. in which usual age at presentation is 16-18 years and is more common in females..
Non specific symptoms of acute attack are.. hyponatremia, SIADH and mild leuckocytosis.. all three are present in this case scenario along with acute abdomen..
investigations: urinary porhyrobilinogen (increased in AIP)
treatment: IV hematin is the treatment of choice at 4mg/kg/day for 4 days.. it gives negative feed back for heme synthesis and shuts down porphyrin synthesis.. (as this case is of severe attack)
for mild attacks.. 5 percent dextrose is given with 0.9 percent normal saline.. @2L/day
Sir i think this is acute intermittent porphyria.. in which usuall age of presentation is 16-18 years and more common in females..having non specific symptoms during acute attack i. e hyponatremia, SIADH and mild leuckocytosis.. all three are present in this case scenario.
Furthur investigations: Urinary porhyrobilinogen… (icreased in AIP)
as all other investigations are being done.. xray and USG abdomen is normal.. so Tb calcifications are ruled out..
CT scan abdomen is normal.. (so addisons disease is ruled out.. plus patient is not having hyper pigmentation, nausea, vomiting, hypotension and high grade fever.. so addisons is ruled out)
Treatment: in this case IV hematin 4mg/kg/day for 4 days should be given.. as it provides negative feed back for heme synthesis and porphyrin as well..
for mild attack: 5 percent dextrose is given in 0.9 percent normal saline at 2L/day.. (to inhibit heme synthesis and correct hyponatremia as well).
Sir i think this is acute intermittent porphyria.. in which usuall age at presentation is 16-18 years and more common in females..having non specific symptoms during acute attack i. e hyponatremia, SIADH and mild leuckocytosis..(along with acute abdomen) all three are present in this case scenario.
Furthur investigations: Urinary porhyrobilinogen… (icreased in AIP)
as all other investigations are being done.. xray and USG abdomen is normal.. so Tb calcifications are ruled out..
CT scan abdomen is normal.. (so addisons disease is ruled out.. plus patient is not having hyper pigmentation, nausea, vomiting, hypotension, hypoglycemia and high grade fever.. so addison disease is ruled out)
Drug history is important which is not mentioned here.. as P450 inducers can lead to acute attack of AIP.
Treatment: in this case IV hematin 4mg/kg/day for 4 days should be given.. as it provides negative feed back for heme synthesis and porphyrin as well..
for mild attack: 5 percent dextrose is given in 0.9 percent normal saline at 2L/day.. (to inhibit heme synthesis and correct hyponatremia as well).
Great response from everybody. AIP is a fascinating diagnosis.
For me, it was a spot diagnosis when i saw the patient but great minds like yours make differential diagnosis instead, as you think with open minds.?
Thank you sir.. but we want to know about investigations that lead to diagnosis and management being done by you and your team ?
????
Hyponatremia differential is very very important as we admitted many cases with hyponatremia