Condition Lookup
Category:
Heme Synthesis and Disorders
Number of Conditions: 5
Acute Intermittent Porphyria (AIP)
Specialty: Hematology
Category: Heme Synthesis and Disorders
Symptoms:
abdominal pain; nausea; vomiting; constipation; muscle weakness; confusion; anxiety; seizures; dark-colored urine
Root Cause:
Deficiency of the enzyme porphobilinogen deaminase (PBGD), leading to the accumulation of heme precursors such as delta-aminolevulinic acid (ALA) and porphobilinogen (PBG).
How it's Diagnosed: videos
Measurement of urinary porphobilinogen (PBG) levels during an acute attack; genetic testing to confirm enzyme mutations.
Treatment:
Avoiding triggers (e.g., certain drugs, fasting, stress), intravenous administration of hemin, high carbohydrate intake during attacks.
Medications:
Hemin (a heme analog used to suppress heme synthesis); glucose infusions for mild attacks to inhibit ALA synthase.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 20,000 individuals; more common in women than men.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Female sex, hormonal fluctuations, certain medications (e.g., barbiturates, sulfa drugs), fasting, alcohol consumption.
Prognosis:
The expected outcome or course of the condition over time.
With proper management, acute attacks are treatable; however, untreated attacks can lead to complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Permanent neurological damage, chronic pain, liver cancer (in rare cases).
ALA Dehydratase Deficiency Porphyria (ALADP)
Specialty: Hematology
Category: Heme Synthesis and Disorders
Symptoms:
severe abdominal pain; nausea; vomiting; neuropathy; weakness; dark-colored urine
Root Cause:
Deficiency of the enzyme ALA dehydratase, resulting in elevated levels of ALA in the plasma and urine.
How it's Diagnosed: videos
Elevated urinary ALA levels, enzyme assays showing low ALA dehydratase activity, genetic testing.
Treatment:
Hemin administration, carbohydrate loading, and avoidance of triggers.
Medications:
Hemin (to downregulate ALA production); glucose infusions for supportive management.
Prevalence:
How common the health condition is within a specific population.
Extremely rare, with fewer than 10 reported cases worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic mutations, exposure to heavy metals (e.g., lead poisoning).
Prognosis:
The expected outcome or course of the condition over time.
Chronic management is required to prevent acute attacks; outcomes depend on the severity and frequency of symptoms.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Neurological deficits, kidney damage.
Chester Porphyria
Specialty: Hematology
Category: Heme Synthesis and Disorders
Symptoms:
photosensitivity; skin fragility; mild abdominal pain; neuropathy
Root Cause:
Rare variant of porphyria, characterized by enzyme dysfunctions in the heme synthesis pathway.
How it's Diagnosed: videos
Abnormal levels of porphyrins in urine, stool, and plasma; genetic testing for rare mutations.
Treatment:
Avoidance of sunlight exposure, hemin infusions, and symptomatic management.
Medications:
Hemin (for acute attacks); beta-carotene (to reduce photosensitivity).
Prevalence:
How common the health condition is within a specific population.
Extremely rare, with cases limited to specific familial clusters.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of porphyria, environmental triggers.
Prognosis:
The expected outcome or course of the condition over time.
Management of symptoms leads to stable outcomes; rare complications possible.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Photosensitivity-related skin damage, chronic pain.
Hereditary Coproporphyria (HCP)
Specialty: Hematology
Category: Heme Synthesis and Disorders
Symptoms:
abdominal pain; nausea; vomiting; neuropathy; photosensitivity; dark urine
Root Cause:
Deficiency of the enzyme coproporphyrinogen oxidase, leading to the accumulation of porphyrins in the liver and plasma.
How it's Diagnosed: videos
Elevated levels of coproporphyrins in urine and stool; genetic testing.
Treatment:
Avoiding triggers, administration of hemin for acute attacks, high carbohydrate intake during symptomatic episodes.
Medications:
Hemin (to inhibit ALA synthase); glucose infusions for mild attacks.
Prevalence:
How common the health condition is within a specific population.
Rare, with a prevalence of approximately 1 in 1,000,000.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, hormonal changes, fasting, certain medications (e.g., sulfonamides).
Prognosis:
The expected outcome or course of the condition over time.
Treatable; acute episodes can be effectively managed.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Neurological damage, chronic pain, photosensitivity-related skin damage.
Porphyria Overview
Specialty: Hematology
Category: Heme Synthesis and Disorders
Symptoms:
abdominal pain; neuropathy; photosensitivity; dark urine; fatigue
Root Cause:
Disorders caused by defects in heme biosynthesis enzymes, leading to the accumulation of porphyrins or their precursors.
How it's Diagnosed: videos
Biochemical analysis of urine, stool, and blood for porphyrins; genetic testing to identify specific mutations.
Treatment:
Symptom management, avoidance of triggers, hemin administration, high carbohydrate diets for acute attacks.
Medications:
Hemin (to control attacks); beta-carotene for photosensitivity.
Prevalence:
How common the health condition is within a specific population.
Varies widely among types; AIP is most common, with a prevalence of 1 in 20,000.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, environmental factors, hormonal fluctuations.
Prognosis:
The expected outcome or course of the condition over time.
Varies by type; manageable with appropriate treatment.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Neuropathy, chronic pain, liver cancer (in severe cases).