Can porphyria affect pregnancy?
Studies have compared the risk of pregnancy in women with porphyria to those without the disease. The results of these studies indicate that women with porphyria have a higher risk of preeclampsia (dangerously high blood pressure during pregnancy) and a higher incidence of delivery by cesarean section.
What is porphyria in pregnancy?
Abstract. Acute intermittent porphyria (AIP) is a rare inherited disorder of heme metabolism. It has the ability to trigger posterior reversible encephalopathy syndrome (PRES), a rare acute neurologic condition that is characterized by acute neurological symptoms. Pregnancy may induce AIP attacks.
What is the cause of acute porphyria?
Porphyria cutanea tarda (PCT) typically is acquired rather than inherited, although the enzyme deficiency may be inherited. Certain triggers that impact enzyme production — such as too much iron in the body, liver disease, estrogen medication, smoking or excessive alcohol use — can cause symptoms.
Does porphyria affect fertility?
Almost without exception, female patients with porphyria (of any sort) have normal pregnancies and deliver healthy babies without experiencing acute attacks. However, pregnancy is associated with increased levels of hormones such as progesterone which potentially may aggravate porphyria.
What is AIP medical condition?
General Discussion. Summary. Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by partial deficiency of the enzyme hydroxymethylbilane synthase (also known as porphobilinogen deaminase). This enzyme deficiency can result in the accumulation of porphyrin precursors in the body.
How is acute porphyria diagnosed?
Lab tests are required to make a definitive diagnosis of porphyria and to determine which form of the disease you have. Different tests are performed depending on the type of porphyria your doctor suspects. Tests include a combination of blood, urine or stool testing.
What happens when you have porphyria?
Porphyria occurs when the body cannot convert compounds called ‘porphyrins’ into heme. While all tissues have heme, those that use it the most are the red blood cells, liver and bone marrow. Porphyria can affect the skin, nervous system and gastrointestinal system. More women than men are affected by porphyria.
Can you do AIP while pregnant?
The clinical syndrome in AIP presents mainly with acute attacks, especially during the first trimester. Misdiagnosis of AIP unfortunately is very common. Pregnancy in women with AIP is associated with higher rates of spontaneous abortion, hypertension, low birth weight infants and considerable mortality (2-42%).
How is acute porphyria treated?
Treatment for acute porphyria involves intravenous (IV) heme or glucose infusions (adding heme or glucose directly into a vein). These therapies decrease the number of porphyrins or porphyrin precursors produced in the liver. Other drugs are under investigation and may be available through clinical trials.
What does porphyria pain feel like?
Pain symptoms Severe abdominal pain is the most common symptom of acute porphyrias. Pain in other parts of the body, such as the chest, legs, or back, also may occur. Patients with acute porphyrias may experience muscle pain, sometimes accompanied by tingling, numbness, weakness, or paralysis.
How long does acute porphyria last?
Porphyria attacks typically last 5–7 days [6], although more severe or prolonged attacks can occur, potentially causing paralysis, respiratory failure, and death [7, 8]. AIP attacks can also lead to frequent hospitalizations [2], long-term use of opioids [2, 9], and high rates of unemployment [10].
How does porphyria affect pregnancy?
Studies have compared the risk of pregnancy in women with porphyria to those without the disease. The results of these studies indicate that women with porphyria have a higher risk of preeclampsia (dangerously high blood pressure during pregnancy) and a higher incidence of delivery by cesarean section.
Is porphyria a heritable disease?
Porphyria is a heritable condition. People with porphyria can potentially pass the disease onto their children. Some types of porphyria are inherited in a dominant way. This means that inheriting a single copy of a disease-causing mutation is sufficient for the disease to develop.
Can women with acute intermittent porphyria (AIP) have a good outcome?
Despite the fact that pregnancy in women suffering from AIP is related to higher rates of morbidity and complications, close management throughout the pregnancy could ensure a good outcome. Abortion, Spontaneous / etiology