Young Woman with Recurrent Abdominal Pain

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Steven I. Shedlofsky

A 22-year-old white female presented to the emergency department with severe abdominal pain and profound generalized weakness. Milder episodes of similar abdominal pains had been occurring intermittently since age 17. When the patient was 18, an appendectomy was performed during one episode, but her appendix and terminal ileum were normal. Episodes occurred, on the average, every 3 months. Because her pain usually began 4-7 days before onset of her menstrual period and resolved with menses, a gynecological cause was suspected. However, numerous pelvic examinations; ultrasonographic examinations of her ovaries, fallopian tubes, and uterus; and even a laparoscopy revealed normal anatomy.

The patient's pains were usually dull, aching, and poorly localized and would last for hours without relief. Often there would be nausea but rarely vomiting. Frequently the patient developed abdominal distention and constipation and complained of leg weakness, but she was usually able to walk. When seen in the emergency department or office during these episodes, she was tachycardic but otherwise had a nonrevealing examination. Her stool was always negative for occult blood. Over the years, she had maintained a stable weight of 103-107 lb (47-48 kg). All of her routine laboratory studies, including complete blood counts, pancreatic enzymes, liver function tests, antinuclear antibodies, and urinalyses, were normal. The patient and her boyfriend were using condoms for contraception, and urine pregnancy tests were always negative. An upper gastrointestinal x-ray examination with a small bowel study, an endoscopic examination of her stomach and duodenum, a colonoscopy, a capsule endoscopy of her small bowel and a computed tomo-graphic (CT) scan of her abdomen and pelvis had all been performed within the last year and were normal.

Prior to age 17, the patient never had any significant illnesses, although she had required phototherapy for neonatal jaundice. She was the eldest of four children (two sisters and one brother) who, along with her parents, were in good health. There was no history of gastrointestinal or gynecologic problems in her family, although an aunt on her father's side had periodically suffered unexplained abdominal pain.

To manage the pain, the patient would take oral meperidine and acetaminophen with some relief. Only once in the past 2 years did she have to visit the emergency department because of dehydration due to an inability to eat or drink. The patient had been referred to a psychiatrist 2 years previously and was still seeing him occasionally. Although the psychiatrist had expressed concern about her narcotic use, he discovered no affective or thought disorder and had recommended a variety of antianxiety drugs, which the patient declined.

Just 3 days prior to the patient's current presentation, her gynecologist had prescribed trimethoprim and sulfamethoxazole for a presumed urinary tract infection. When the patient arrived in pain this time, she was complaining of much more severe abdominal pain, nausea with vomiting, bilateral leg pain with paresthesias, and generalized weakness such that she could not stand. She was a well-nourished but dehydrated young woman in obvious pain and very weak with a pulse of 125 bpm and a blood pressure of 142/105 mm Hg. Although she complained of abdominal pain, there was no localized tenderness or rebound pain. Her abdomen was distended and revealed scars from her appendectomy and laparoscopy. Neurological examination showed decreased motor strength in both legs and absent reflexes. Responses to pinprick, light touch, and proprioception were decreased.

Initial laboratory results were as follows:

Analyte

Hemoglobin (B) Hematocrit (B) Leukocyte count (B) MCV (B) Platelet count (B) Sodium (S) Potassium (S) Chloride (S) CO2, total (S) Urea nitrogen (S) Creatinine (S) Glucose (S) Calcium (S) Phosphorus (S) Protein, total (S) Albumin (S) AST (S) ALT (S) ALP (S) GGT (S) ß-HCG pregnancy test (S) Urinalysis (U)

Specific gravity

Value, Conventional Units

381 x 103/mL 133 mmol/L 3.6 mmol/L 97 mmol/L

32 mmol/L 27 mg/dL 0.8 mg/dL 106 mg/dL 8.8 mg/dL 3.2 mg/dL 6.6 g/dL 3.4 g/dL 44 U/L

33 U/L Negative

Negative for glucose, protein, bilirubin, blood, and leukocyte esterase;

Reference Interval, Conventional Units

12-16 37-47 4.8-10.8 80-94 150-450 136-145 3.8-5.1 98-107 23-31 8-21 0.7-1.3 80-115

Negative

Value, SI Units

381 x 109/L

Same

Same

Same

Same

9.6 mmol urea/L 71 mmol/L 5.8 mmol/L 2.20 mmol/L 1.03 mmol/L 66 g/L 34 g/L 0.73 mkat/L 0.63 mkat/L 1.46 mkat/L 0.56 mkat/L

Reference Interval, SI Units

150-450

2.9624.42.100.8762350.270.220.500.17-

2.55

1.45

0.80

0.67

1.67

0.83

Abdominal x-ray films showed some distended loops of bowel, but no air-fluid levels or free air. The patient was admitted, and her dehydration was treated with intravenous fluids. Shortly after admission, the patient's hospitalist was contacted by the clinical laboratory and told that her urine sample had turned a deep red-wine color after standing at room temperature on the laboratory bench. The laboratory supervisor suggested ordering a semiquantitative rapid urine porphobilinogen that could be performed in the hospital laboratory. This was done and demonstrated a strongly positive result of >23 mg PBG/L (>100 mmol/L).

The hospitalist quickly obtained information on how to diagnose and treat the acute hepatic porphyrias. She stopped the patient's sulfamethoxazole and began therapy with intravenous glucose (at a rate of 12.5 g/h), meperidine (via a "patient-controlled analgesia" pump), promethazine (as need for nausea), and propranolol for the tachycardia. She also ordered intravenous hemin therapy (Panhematin, Ovation Pharmaceuticals, Deerfield, IL) at a dose of 3-4 mg/kg given mixed with a vial of human serum albumin1 as an infusion over 15 minutes each day for 4 days. The hemin was not available until the next day. But the patient responded with some relief to hydration, carbohydrate loading, and analgesics. Her pain was markedly improved just hours after the first hemin/albumin infusion. However, her pain did not totally resolve until she started her menstrual period on admission day 4. She was then given her last infusion of hemin/albumin and discharged from the hospital.

The patient's primary care physician saw her in his clinic a week after discharge, and the patient had no symptoms. Her hypertension and constipation had resolved. Further studies were obtained to confirm the diagnosis of acute porphyria and to characterize which acute porphyria. A 24-hour urine specimen for the quantitative determination of por-phyrins and porphobilinogen (PBG) was collected. (The specimen was collected with sodium bicarbonate, kept on ice, and protected from light.) Another 24-hour urine specimen for quantitative analysis of S-aminolevulinate (ALA) was collected the next day. (The specimen bottle contained hydrochloric acid, was kept on ice, and was protected from light.) A 24-hour stool was collected and sent for quantitative porphyrins. An erythrocyte porphobi-linogen deaminase activity was determined; the test results were as follows:

Analyte

24-hour urine

Value, Conventional Units

Reference Interval, Conventional Units

Value, SI Units

Reference Interval, SI Units

(sodium bicarbonate, alkaline collection)

Volume Creatinine

Porphobilinogen (PBG)

Uroporphyrin

Heptacarboxyporphyrin

Hexacarboxyporphyrin

Pentacarboxyporphyrin

Coproporphyrin

750 mL

945 mg/day 12.4 mg/day 64 mg/day 16 mg/day 2 mg/day

13 mg/day 122 mg/day

600-1600 8.4 mmol/day

0-22 77 nmol/day

0-9 20 nmol/day

0-3 18 nmol/day

0-60 186 nmol/day

0-26

0-11

0-92

24-hour urine

(hydrochloric acid, acidified collection)

Volume

Creatinine

625 mL

956 mg/day 600-1600 8.5 mmol/day

Analyte

Value, Conventional Units

Reference Interval, Conventional Units

Value, SI Units

Reference Interval, SI Units

Random stool specimen Weight Uroporphyrin Coproporphyrin

102 mg/100 g < 170 mg 122 nmol/100 g <200 nmol 152 mg/100 g <900 mg 233 nmol/100 g <1400 nmol 309 mg/100 g <1500 mg 550 nmol/100 g <2600 nmol

124 g

Protoporphyrin 3

Erythrocyte porphobilinogen deaminase

7.0 nkat/L

The elevated urinary PBG excretion confirmed that the patient had one of the acute hepatic porphyrias. Since the PBG excretion was much greater than the ALA excretion, lead poisoning could be ruled out as a cause of the symptoms. (In lead poisoning, ALA excretion is greater than PBG excretion.) The normal stool porphyrin studies ruled out variegate porphyria (VP) and hereditary coproporphyria (HCP) and confirmed that the patient must have acute intermittent porphyria (AIP). This diagnosis was further supported by the decreased erythrocyte PBG deaminase activity and the fact that she never experienced any photosensitivity or skin lesions in sun-exposed areas (see discussion below).

The physician surmised that the recent sulfamethoxazole therapy for the patient's urinary tract infection had induced this rather severe attack of AIP, possibly in coincidence with one of her milder, hormonally induced premenstrual attacks. Because of the diagnosis of AIP, the patient was instructed to avoid a number of potentially dangerous medications (see Website listed as Ref. 4). She continued to have mild, painful attacks 2-3 times per year, almost always prior to menses. The attacks responded to one dose of intravenous hemin that was given (without albumin) as an outpatient along with oral carbohydrate loading.

After her marriage and despite being told that AIP was a genetic disorder that had a 50% chance of being inherited by each of her children, the patient at age 26 became pregnant. However, she had no attacks during pregnancy and delivered a healthy son. She was fine until 6 months postpartum when a severe attack prompted hospitalization and a 4-day course of hemin/albumin infusions. When the patient's youngest sister also began having attacks of abdominal pain and was diagnosed with AIP, the patient decided to have a tubal ligation. By age 28, 6 years after the diagnosis of AIP was made, the patient stopped having premenstrual pain attacks and has remained in good health since. Erythrocyte PBG deaminase assays were performed on the patient again, as well as her parents, her siblings, and her son and demonstrated 50% enzymatic activity in the patient's father, and the younger sister with diagnosed AIP. The patient's other siblings and her 15-month-old son had normal activities.

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