Acute Intermittent Porphyria

From WikiGenetics

1 Name of Condition
2 Definition
3 Description, Signs and Symptoms
4 Inheritance
5 Diagnosis
6 Treatment and Management
7 Prognosis
8 Resources
9 References

[edit] Name of Condition

Acute Intermittent Porphyria (AIP)

[edit] Definition

AIP is in a group of hereditary hepatic diseases, known as porphyrias that involve metabolic defects in heme production and result in over-secretion of porphyrins. Heme is an essential molecule in the human body which is mainly found in the blood, bone marrow, and liver. It is a key component of hemoglobin, a molecule that is responsible for transportation of oxygen in the blood. Specifically, AIP is influenced by the deficiency in the porphobilinogen deaminase (PBGD) enzyme.

[edit] Description, Signs and Symptoms

In some cases, patients that have inherited the gene for AIP never develop symptoms. However, other activating factors such as hormones, drugs, or nutritional changes can influence AIP manifestations.

Symptoms, which typically occur as attacks include:

severe abdominal pain
constipation
muscle weakness
nausea
fever

[edit] Inheritance

Offspring have a 50% chance of inheriting the defective gene responsible for AIP. Even with inheritance of the defective gene, however, most individuals do not present symptoms for long periods of time, and the AIP attacks are most often influenced by environmental factors.

[edit] Diagnosis

AIP is often misdiagnosed because of how similar its symptoms are to more common ailments. There are a few laboratories that provide DNA testing specifically for AIP.

[edit] Treatment and Management

Treatment for AIP aims to reduce heme synthesis. This is often done through high doses of glucose to inhibit heme synthesis, or hematin doses in severe cases. Pain relievers, narcotics, and laxatives are often used as well. A high-carbohydrate diet is recommended during an AIP attack and a daily diet rich in glucose is highly suggested.

[edit] Prognosis

Prognosis is that the majority of patients that avoid known AIP triggers, such as unsafe drugs, excessive alcohol consumption, and fasting, rarely experience these attacks.