Recognizing Acute
Intermittent Porphyria (AIP)

Acute intermittent porphyria (AIP) is a rare inherited disease caused by a partial deficiency of the enzyme porphobilinogen (PBG) deaminase in the heme biosynthetic pathway. PBG deficiency disrupts normal heme production, leading to overproduction of porphyrin precursors that cause diverse pathologic changes.¹ The most common symptom is severe abdominal pain.²

Symptoms

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Recognize the signs and symptoms of AIP

There is wide variability in the clinical features of an acute AIP attack.³ Gastrointestinal, urinary, neurologic, and cardiovascular symptoms commonly occur.²

ABDOMINAL PAIN, which is neuropathic in origin, is the most common AIP symptom.²

An accurate, timely diagnosis of AIP is critical

Delayed treatment can result in serious consequences, including neurologic damage or even death. AIP should be considered in any patient with symptoms that are prominent for AIP, particularly abdominal pain, when initial clinical evaluation does not support another cause.²

Review diagnostic testing guidance

Incidence of Common AIP Symptoms*²

*Based on several series of patients with symptomatic AIP.
Dark or reddish urine is also a common symptom of AIP.²

Precipitating Factors

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Patient characteristics and precipitating factors

In differentiating AIP from other conditions with these common symptoms, certain patient characteristics and possible precipitating factors should heighten the suspicion of AIP.

AIP Patient Profile: Women of reproductive age

Acute AIP attacks are most common in women of reproductive age (most commonly in their 30s) during the luteal phase of their menstrual cycles.^2-4

Exacerbating factors in AIP attacks

The enzymatic deficiency of AIP “predisposes” patients to the effects of precipitating factors that can increase the demand for hepatic heme and induce ALA synthase.² Thus, attacks are usually due to the additive effects of several exacerbating factors, including:

Endogenous steroid hormones, particularly estrogen and progesterone⁴
Use of certain prescription drugs, especially barbiturates, hydantoins, rifampin, and sulfonamides,⁴ and often newly prescribed drugs⁵
Use of alcohol or illicit drugs such as amphetamines, cocaine, and derivatives⁶

Fasting⁴ or crash dieting²
Cigarette smoking^2,3
Metabolic stress induced by infections or surgery²
Psychological stress¹

Family History

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Family history of AIP

Having family members with diagnosed AIP is highly indicative, yet one-third of patients have no family history of AIP.¹

Although AIP is a genetic disease, it is an autosomal dominant condition with low penetrance. Therefore, 80%-90% of individuals who have inherited the enzyme deficiency never have symptomatic disease and are considered to be "latent porphyrics." ¹

Review genetic testing information

Although AIP is the most common and severe form of the four acute porphyrias in the US, it is still a rare disease.¹ The combined prevalence of the acute porphyrias is estimated to be approximately 5 cases per 100,000 people in the US.²

Potential Consequences

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Possible serious consequences of not recognizing AIP

Individuals with undiagnosed or inappropriately treated AIP attacks may suffer serious, potentially fatal, consequences, including:²

Peripheral neuropathy
Paresis
Respiratory and bulbar paralysis

Hepatocellular carcinoma
Chronic liver damage
Chronic neuropathic pain

Chronic arterial hypertension
Renal impairment
Death resulting from cardiac arrhythmia or paralysis during an attack

AIP should be considered in any patient with symptoms that are prominent for AIP, particularly abdominal pain, when initial clinical evaluation does not support another cause.²

Diagnosing and Managing AIP Review diagnostic testing guidance

About PANHEMATIN Review efficacy and safety data

Indications And Usage

PANHEMATIN^® is a hemin for injection indicated for the amelioration of recurrent attacks of acute intermittent porphyria temporally related to the menstrual cycle in susceptible women, after initial carbohydrate therapy is known or suspected to be inadequate.

Limitations of Use

Before administering PANHEMATIN, consider an appropriate period of carbohydrate loading (i.e., 400 g glucose/day for 1 to 2 days).

Attacks of porphyria may progress to a point where irreversible neuronal damage has occurred. PANHEMATIN therapy is intended to prevent an attack from reaching the critical stage of neuronal degeneration. PANHEMATIN is not effective in repairing neuronal damage.

Important Safety Information

Do not use in patients with known hypersensitivity to PANHEMATIN.

Phlebitis is possible. Utilize a large arm vein or a central venous catheter for administration to minimize the risk of phlebitis.

Elevated iron and serum ferritin may occur. Monitor iron and serum ferritin in patients receiving multiple administrations of PANHEMATIN.

PANHEMATIN has transient and mild anticoagulant effect. Avoid concurrent anticoagulant therapy.

Reversible renal shutdown has been observed with an excessive hematin dose (12.2 mg/kg in a single infusion). Strictly follow recommended dosage guidelines.

PANHEMATIN may carry a risk of transmitting infectious agents, e.g., viruses, and theoretically, the Creutzfeldt-Jakob disease (CJD) agent.

Most common adverse reactions in >1% of patients are headache, pyrexia, infusion site reactions, and phlebitis.

To report SUSPECTED ADVERSE EFFECTS, contact Recordati Rare Diseases Inc. at 1-888-575-8344, or FDA at 1800-FDA-1088 or www.fda.gov/medwatch.

Avoid CYP inducing drugs such as estrogens, barbituric acid derivatives and steroid metabolites which induce δ‑aminolevulinic acid synthetase 1 (ALAS1) through a feedback mechanism.

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Recognizing Acute
Intermittent Porphyria (AIP)

Symptoms