When the blood is incomplete - Acute intermittent porphyria - Another rare, yet equally fatal and heritable metabolic disease.

Kim and her husband live in Otaki, a small area about an hour away from Wellington, the capital City of New Zealand. Kim came to the hospital in 2003. She suffered from abdominal pain, back pain, vomiting, and aching arms and legs. Her blood pressure rose dangerously, she suffered a mini-stroke and several seizures. Because of that, she spent several days in the intensive care unit, where multiple tests were performed until she was diagnosed with acute intermittent porphyria. Both her grandfather and mother had previously shown similar symptoms (1).

Acute porphyria is a congenital metabolic disorder in which the body's production of the red blood pigment heme, a component of hemoglobin, is disrupted due to defects in certain proteins. Due to these defects, the body is unable to produce heme in certain situations and acute symptoms occur. The European Pophyria Network provides detailed explanations of this disease. The most common form of this rare disease is acute intermittent porphyria. In this form, neuro-visceral attacks occur, which can last for several days. These are manifested by, for example, severe abdominal pain, nausea, vomiting, but also psychological symptoms such as depression or auditory and visual hallucinations and neurological manifestations affecting both the central and peripheral nervous systems. Further information is provided by Orpha.net (2).

Kim's first 13-week hospitalization was followed by 29 more over a three-year period. Due to nerve damage, she suffered from this disease, she had to learn to use her legs and hands again. Her hospitalizations became a nightmare because there was no treatment program for her disease, and she was usually given delayed or the wrong treatment. She now also had kidney problems, neuropathy, severe weight loss, and loss of bone density. Until then, therapy consisted of glucose treatment to stabilize Kim and eliminate her complications.

Only after a long research on the Internet, Kim's husband got information for an effective treatment. Through this treatment, her doctor was able to treat her appropriately at an early stage of the seizure and stop it before it caused serious damage. Kim now has recurring problems with abdominal, back or limb pain. She takes medication for this pain, eats better and has had all things in her body removed that could trigger another seizure.

With the help of the Amercian Porphyria Foundation network, she and her husband have gained the knowledge that has helped Kim live a mostly normal life. Her son has also been tested for the disease and carries the same gene that Kim and her mother carry. He is 18 and shows no complications so far (1).

These and similar stories show how difficult it is to find the right treatment for rare diseases like acute intermittent porphyria. On the other hand, it becomes obvious how limited the knowledge is even in the most developed health care systems of the world when it comes to rare diseases and their therapy. Once again, it is impressively demonstrated that the patient must be at the center of therapeutic efforts and that networking of experts in the health care system is essential. But also here the first step is done, because there are drugs which can fight this disease or the attacks of this disease (3).

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(1) True stories of patients can be found on the American Porphyria Foundation site.

(2) The Acute Porphyria Self-Help Group provides information about the disease in German.

(3) Insights into drug therapy can be found on the page of the pharmaceutical newspaper