Rare disease: Acute hepatic porphyria is so dangerous!

Rare disease: Acute hepatic porphyria is so dangerous!

There is currently worrying news in Vienna: a 25-year-old woman has been missing for a week. Family and friends fear for her well-being, especially in light of the health problems she is suffering from. This young woman is affected by acute intermittent porphyria (AIP), a rare and inherited metabolic disease that can cause severe abdominal pain and a variety of other symptoms. It is therefore unclear what health condition she might be in. How My district of Vienna reported, these concerns are all the more urgent because the diagnosis of such diseases is often difficult.

AIP is the most severe form of hepatic porphyria, and symptoms can include nerve pain and muscle pain in addition to severe abdominal pain. Diagnosis is made through special blood and urine tests that detect an increased concentration of delta-aminolevolinic acid (d-ALA) and porphobilinogen (PBG). The prevalence of AIP is approximately 1 in 10,000, highlighting the specificity and prevalence of this disease. This was the result of an analysis by MedicoConsult.

The challenges of diagnosis

The often nonspecific symptoms of AIP, which can include confusion, nausea, and severe pain, make it difficult to make a clear diagnosis. Psychological disorders can also occur, which further complicates the situation. This predisposition can lead to complicated disease processes, which can also result in kidney damage, as shown in a study by PMC is presented.

To stop the attacks, heme infusions or hemarginate are often used. In some cases, glucose infusion can also help. Experts recommend considering hormonal treatments for women to reduce the frequency of such attacks. In particularly severe cases, a liver transplant may even be considered.

Urgent call for help

The relatives of the missing young woman have great hope for the public. Any clue could be crucial to finding her as quickly as possible. The Fassl nursery in Vienna Döbling, which has over 75 years of experience in floristry and garden design, is a place of support during this difficult time. The nursery is not only a starting point for searching, but also offers a wide selection of cut flowers, green plants, shrubs and trees that bring joy to people in the area.

It should also be noted that the MeinBezirk Vienna team can now also be reached via WhatsApp. Thanks to WhatsApp's new channel function, interested readers can subscribe to public channels to receive quick information.

We hope that this worrying situation turns positive and that the 25-year-old returns safely.