Acute PorphyriaMANAGEMENT

ENDOCRINE AND METABOLIC PRESENTATIONS · 12 SECTIONS

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557 items

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Cardiovascular Presentations71▾

Respiratory Presentations52▾

Neurological Presentations83▾

Gastrointestinal Presentations74▾

Genitourinary and Reproductive Presentations48▾

Infectious Disease Presentations148▾

Trauma Presentations89▾

Toxicologic Presentations80▾

Psychiatric Presentations26▾

Musculoskeletal and Rheumatologic Presentations96▾

Dermatology Presentations23▾

Environmental and Exposure Presentations27▾

Hematologic and Oncologic Presentations36▾

Pediatric-Specific Presentations19▾

Endocrine and Metabolic Presentations45▾

Acute Porphyria Adrenal crisis Adrenal Insufficiency (Addisonian Crisis)Dehydration Diabetes Insipidus Diabetic Ketoacidosis (DKA)Euglycemic DKA (SGLT2 inhibitor)Galactosemia GLP-1 receptor agonist complications (retained gastric contents, aspiration risk)Homocystinuria Hypercalcemia Hyperkalemia Hypermagnesemia Hypernatremia Hyperosmolar Hyperglycemic State (HHS)Hypertensive emergency Hypertensive urgency Hypocalcemia Hypoglycemia Hypogonadism (Acute Presentation)Hypokalemia Hypomagnesemia Hyponatremia Hypoparathyroidism (Tetany)Insulin pump failure Maple Syrup Urine Disease (Crisis)Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)Metabolic Acidosis Metabolic Alkalosis Myasthenia gravis crisis Myxedema coma Pellagra Pheochromocytoma (Crisis)Pituitary Apoplexy Pompe Disease (GSD II)Respiratory Acidosis Respiratory Alkalosis Scurvy SIADH Starvation Ketosis Tarui Disease (GSD VII)Thyroid storm Tyrosinemia Vitamin D Deficiency (Severe-Rickets)Von Gierke Disease (GSD I)

ENT and Maxillofacial Presentations27▾

Ophthalmologic Presentations19▾

Obstetric Presentations23▾

Systemic and Miscellaneous Presentations17▾

01Approach to the Critical Patient/attcp60

Immediate priorities

›Life threats in acute attack

›Airway and ventilation failure

›Bulbar weakness with poor secretion clearance

›Intercostal and diaphragmatic weakness

›If declining vital capacity, prepare intubation

›Status epilepticus

›Seizures in ~20% of acute attacks

›Often driven by hyponatremia or hypomagnesemia

›If seizing, IV magnesium sulfate and benzodiazepine first line

›Severe hyponatremia

›SIADH in ~40% of attacks

›Risk of precipitous fall with hypotonic fluids

›If symptomatic, controlled correction with isotonic strategy

›Recognition triggers

›Purple flag triad

›Abdominal pain plus seizures plus hyponatremia

›Young woman of reproductive age

›Highly suggestive of acute hepatic porphyria

›Pain and exam discordance

›Severe diffuse pain with benign abdomen

›Normal abdominal imaging despite symptoms

›Recurrent nondiagnostic presentations

›Prior negative surgical workups

›Prior psychiatric labeling

Immediate actions

›First moves on suspicion

›Stop all porphyrinogenic drugs immediately

02History/hx53

Presenting symptoms

›Core neurovisceral syndrome

›Severe diffuse abdominal pain

›Present in ~90% of attacks

›Colicky and poorly localized

›Radiation to back or thighs

›Gastrointestinal features

›Nausea and vomiting

›Constipation from ileus

›Urine changes

›Dark, reddish, or tea-colored

›May darken only on standing in light

›Neuropsychiatric features

›Motor symptoms

›Limb pain and weakness

›Proximal greater than distal

›Psychiatric symptoms

›Anxiety and agitation

›Confusion or hallucinations

›Seizures

›May be presenting event

›Often electrolyte related

Triggers and timeline

›Attack triggers

›Medication changes

›CYP450 and ALAS1 inducers

›Recent new prescriptions

›Caloric deprivation

03Physical Exam/exam41

Vital signs and general

›Autonomic findings

›Tachycardia

›Sympathetic overactivity in most attacks

›Persistent despite analgesia

›Hypertension

›Often coexisting with tachycardia

›May be labile

›Diaphoresis and retention

›Sweating

›Urinary retention

›General appearance

›Distress out of proportion

›Severe pain with benign abdomen

›Restlessness and anxiety

›Mental status

›Agitation or confusion

›Hallucinations in some

Abdominal exam

›Discordant abdominal findings

›Absent peritoneal signs

›No rebound

›No guarding or rigidity

›Ileus signs

›Mild distension

›Decreased bowel sounds

Neurologic and skin exam

›Neurologic findings

04Differential Diagnosis/ddx42

Surgical and life-threatening mimics

›Acute surgical abdomen

›Appendicitis or cholecystitis

›Peritoneal signs present

›Positive imaging findings

›Bowel obstruction

›Distension with obstructive imaging

›ICD-10 K56.60 unspecified obstruction

›Endocrine and metabolic emergencies

›Addisonian crisis

›Hyponatremia and hypotension

›Abdominal pain overlap

›Lead poisoning

›Abdominal pain with elevated urine ALA

›Normal PBG and anemia present

Neurologic mimics

›Guillain-Barre syndrome

›Ascending weakness

›Elevated CSF protein

›Normal urine PBG

›Distinguishing tests

›Nerve conduction patterns

›CSF albuminocytologic dissociation

›Other porphyria-related conditions

›Tyrosinemia type 1

›Elevated ALA without PBG elevation

›Hepatic dysfunction in children

›Other acute hepatic porphyrias

05Laboratory Tests/lt49

Diagnostic biochemistry

›First-line screening

›Random urine PBG

›Normalized to creatinine

›Elevated at least 5-fold in attack

›Often 10 to 150 times upper limit

›Random urine ALA

›Elevated alongside PBG

›Distinguishes lead and tyrosinemia when PBG normal

›Sample handling

›24-hour collection not required

›Protect specimen from light

›Subtyping and confirmation

›Urine porphyrin fractionation

›Helps subtype after positive PBG

›Not a standalone screen due to false positives

›Genetic testing

›HMBS for acute intermittent porphyria

›CPOX, PPOX, ALAD for other subtypes

Supportive labs

›Electrolytes and organ panels

›Basic metabolic panel

›Hyponatremia in ~40%

›Hypomagnesemia

›Liver function

›Mild transaminase elevation

›Baseline for surveillance

›Renal function

06Diagnostic Tests/dt69

Scoring Systems

›Severity stratification

›Mild attack

›Pain manageable without opioids

›No hyponatremia, seizures, or weakness

›Outpatient carbohydrate loading candidate

›Moderate to severe attack

›Requires opioids

›Hyponatremia, seizures, or motor neuropathy

›Admission and IV hemin

›Life-threatening attack

›Respiratory or bulbar compromise

›Severe encephalopathy or status epilepticus

›ICU admission

›Purple flag criteria

›Clinical trigger set

›Abdominal pain prompting opioids

›Hyponatremia

›Recurrent nondiagnostic presentations

›Diagnostic action

›Prompt urine PBG testing

›Avoid empirical surgery

MRI

›Brain MRI

›Indications

›Encephalopathy or seizures

›Unexplained altered mental status

›Characteristic finding

07Disposition/dispo34

Admission and level of care

›Admit indications

›Pain requiring opioids

›Inadequate oral control

›Need for IV analgesia

›Metabolic or neurologic involvement

›Hyponatremia

›Seizures or motor weakness

›Therapy and intake needs

›Requirement for IV hemin

›Inability to maintain oral intake

›ICU indications

›Respiratory and bulbar

›Respiratory compromise

›Bulbar signs

›Neurologic emergencies

›Status epilepticus

›Declining vital capacity

›Severe hypertension

›Hypertensive crisis

›Associated PRES

Discharge and follow-up

›Discharge criteria

›Symptom control

›Pain controlled without opioids

›No progressive neurologic deficits

›Physiologic stability

›Stable electrolytes

08Treatment/t74

Initial stabilization

›Remove precipitants

›Discontinue porphyrinogenic drugs

›Barbiturates and inducing anticonvulsants

›Sulfonamides, rifampin, progestins

›Treat triggers

›Infection management

›Correct fasting state

›Carbohydrate and fluid therapy

›IV dextrose

›10% dextrose in 0.45% saline

›Approximately 300 to 400 g glucose per day

›Avoid hypotonic dextrose in water

›Electrolyte correction

›Controlled correction of hyponatremia

›IV magnesium sulfate for hypomagnesemia

Specific therapy

›IV hemin (hematin)

›Indication

›Moderate to severe attack

›First-line specific therapy

›Dosing

›3 to 4 mg/kg IV once daily

›Infuse over 30 to 40 minutes

›Course of 3 to 5 days

›Administration precautions

›Reconstitute with human albumin for stability

›Large peripheral vein or central line, PICC preferred

09Special Populations/sp42

Pregnancy

›Risk and presentation

›Attack risk

›Progesterone surge as trigger

›Hyperemesis and fasting precipitants

›Diagnostic approach

›Urine PBG remains screening test

›Prefer ultrasound to limit radiation

›Management adjustments

›Therapy safety

›IV hemin considered safe in pregnancy

›Glucose loading and opioids acceptable

›Givosiran caution

›Limited pregnancy data

›Specialist-guided decision

Geriatric

›Presentation differences

›Atypical features

›Confusion as prominent symptom

›Overlap with other comorbidity

›Complication burden

›Chronic kidney disease

›Hypertension and hepatocellular risk

›Management considerations

›Medication review

›Higher polypharmacy and inducer exposure

›Renal dose adjustment

›Surveillance priority

10Background/b43

Epidemiology

›Disease burden

›Subtype frequency

›Acute intermittent porphyria most common

›Prevalence about 1 in 100,000

›Demographic pattern

›80 to 90% women of reproductive age

›Frequently misdiagnosed

›Classification

›Acute hepatic porphyria subtypes

›Acute intermittent porphyria

›Variegate and hereditary coproporphyria

›ALA dehydratase deficiency porphyria

›Penetrance

›Low clinical penetrance

›Most carriers asymptomatic

Pathophysiology

›Heme synthesis defect

›Enzyme deficiency

›Partial block in heme biosynthesis

›Subtype-specific enzyme defect

›Precursor accumulation

›ALA and PBG buildup

›Presumed neurotoxic effect

›Attack mechanism

›ALAS1 upregulation

›Triggered by inducers and fasting

›Drives precursor overproduction

11Patient Discharge Instructions/pdi29

copy discharge instructions

›Diagnosis and condition

›You have acute porphyria

›An inherited problem with heme production

›Attacks can be triggered by certain drugs and fasting

›Carry identification

›Medical alert card or bracelet

›Tell all providers before surgery or anesthesia

›Daily prevention

›Avoid triggers

›No alcohol or smoking

›Do not fast or use crash diets

›Medication safety

›Check porphyria.org before new medicines

›Maintain carbohydrate intake during illness

›Return to the ER for

›Severe symptoms

›Recurrence of severe abdominal pain

›New weakness in arms or legs

›Seizures or confusion

›Other warning signs

›Dark or red urine

›Inability to eat or drink

›Follow-up plan

›Specialist care

›Porphyria specialist within 1 to 2 weeks

›Genetic counseling for family

›Ongoing monitoring

12References/r21

Guidelines and key sources

›Clinical practice guidelines

›AGA Clinical Practice Update on Acute Hepatic Porphyrias 2023

›Diagnosis and management expert review

›Random urine PBG as screening test

›Recommendations for Diagnosis and Treatment of Acute Porphyrias

›Anderson et al, Annals of Internal Medicine 2005

›Hemin and glucose protocols

›Landmark reviews

›Porphyria review

›Bissell, Anderson, Bonkovsky, NEJM 2017

›Neurovisceral attack pathophysiology

›Purple Flags clinical features

›Anderson et al, Am J Med Sci 2022

›Triggers for specific diagnostic testing

›Drug safety and coding

›Drug safety databases

›porphyria.org and drugs-porphyria.org

›Screen before prescribing

›Coding standards

›ICD-10 E80.21 acute intermittent porphyria

›SNOMED CT acute hepatic porphyria concept

Learn More: Acute Porphyria→

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Reviewed by SymptomDx Medical Team · Last reviewed August 18, 2026

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