What is the diagnosis for a 16-year-old female patient with menorrhagia (prolonged menstruation), dysuria (painful urination), and hematuria (presence of blood clots)?

Diagnosis: Glycogen Storage Disease Type I (GSD I) with Bleeding Disorder

This 16-year-old female presenting with menorrhagia, dysuria, and hematuria most likely has Glycogen Storage Disease Type I (GSD I), which causes menorrhagia in females of reproductive age due to impaired platelet function and an acquired von Willebrand-like disease. 1

Primary Diagnostic Consideration

GSD I should be strongly suspected in this adolescent female with menorrhagia and hematuria, as menorrhagia is a recognized problem in females of reproductive age with this condition, caused by a bleeding tendency from impaired platelet function and/or an acquired von Willebrand-like platelet defect. 1

• The bleeding manifestations in GSD I include recurrent epistaxis in childhood, easy bruising, oozing after dental or surgical procedures, and menorrhagia in menstruating females 1
• Reduced platelet adhesiveness, abnormal platelet aggregation, and impaired release of adenosine diphosphate in response to collagen and epinephrine characterize the platelet dysfunction 1
• These platelet defects are secondary to systemic metabolic abnormalities and may be corrected by improving metabolic control 1
• Anemia is commonly noted, especially in patients with hepatic adenomas 1

Hematuria Evaluation Required

Despite the likely GSD I diagnosis, a complete urologic evaluation must be performed to exclude malignancy and other serious pathology, as hematuria requires systematic investigation regardless of underlying conditions. 2, 3

• Verify true hematuria with urinalysis and microscopy showing ≥3 red blood cells per high-power field 3
• Obtain urine culture to exclude urinary tract infection, even with negative dipstick 1, 3
• Assess for dysmorphic red blood cells, red cell casts, and proteinuria which suggest glomerular disease 1
• Perform basic metabolic screening including blood urea nitrogen, serum creatinine, and complete blood count with platelets 1

Dysuria Component

The dysuria in this patient likely represents:

• Irritative voiding symptoms from hematuria itself 3
• Potential urinary tract infection requiring culture confirmation 1, 3
• Possible bladder irritation from blood clots 1

Dysuria with hematuria mandates urine culture even with negative urinalysis, as lower bacterial levels may be clinically significant but not readily identifiable with dipstick or microscopic exam. 1, 3

Imaging Strategy

Renal ultrasound is the best initial imaging modality to display kidney anatomy, size, and position, and to screen for structural lesions in this adolescent with hematuria. 1

• Ultrasound is appropriate for isolated hematuria evaluation in children without proteinuria or dysmorphic red blood cells 1
• CT urography is reserved for high-risk features including gross hematuria, tobacco exposure, or suspicion of malignancy 3
• In this 16-year-old without high-risk features, ultrasound provides adequate initial assessment while avoiding radiation 1

Menorrhagia Management in Context of Bleeding Disorder

For menorrhagia associated with GSD I bleeding disorder, tranexamic acid is the preferred first-line treatment, as it reduces menstrual blood loss by 20-60% and is appropriate when the underlying cause is a coagulation abnormality. 4, 5, 6

• Tranexamic acid is specifically indicated when hormone treatment is contraindicated or when addressing bleeding disorders 4, 5
• Combined oral contraceptives containing 30-35 μg ethinyl estradiol are typically first-line for menorrhagia, but may not address the underlying platelet dysfunction in GSD I 4
• NSAIDs reduce menstrual blood loss by 20-60% and can be used adjunctively for 5-7 days during bleeding episodes 4, 5
• Iron supplementation is essential given the anemia commonly present in GSD I patients 1, 4

Critical Diagnostic Workup for GSD I

If GSD I has not been previously diagnosed, the following metabolic evaluation is essential:

• Fasting blood glucose to assess for hypoglycemia 1
• Serum lactate and uric acid levels (typically elevated) 1
• Lipid panel showing very high triglycerides and low HDL cholesterol 1
• Liver function tests and hepatic imaging for hepatomegaly and adenomas 1
• Genetic testing for definitive diagnosis 1

Key Clinical Pitfalls to Avoid

• Never dismiss hematuria as simply related to menstruation without complete urologic evaluation, as malignancy and other serious pathology must be excluded 2, 3
• Never assume the bleeding is purely gynecologic without investigating the underlying bleeding disorder, as GSD I requires specific metabolic management to correct platelet dysfunction 1
• Never use cyclic progestogens alone for menorrhagia in ovulating women with bleeding disorders, as they do not significantly reduce menstrual bleeding 5, 7
• Never attribute dysuria solely to menstruation without excluding urinary tract infection through culture 1, 3

Follow-Up Protocol

• Monitor hemoglobin and iron studies given the anemia risk in GSD I 1
• Reassess hematuria at 6,12,24, and 36 months if it persists after negative initial evaluation 2
• Consider nephrology referral if hematuria persists with development of hypertension, proteinuria, or evidence of glomerular bleeding 2
• Optimize metabolic control of GSD I to improve platelet function and reduce bleeding tendency 1