Rare clot in AIP case tied to symptoms resembling flare, study finds
Case highlights symptom overlap, need to consider GVT in atypical pain
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A recent report described the case of a woman with acute intermittent porphyria (AIP) who experienced a rare complication called gonadal vein thrombosis (GVT), a blood clot that forms in veins that drain blood from the reproductive organs.
The symptoms initially raised concerns for an AIP flare, so clinicians emphasized the importance of careful consideration when evaluating AIP patients with similar symptoms.
“This case underscores the importance of maintaining a high index of suspicion for uncommon thrombotic [clotting-related] complications in patients with AIP who present with new or atypical pain patterns,” the researchers wrote. “Early recognition and careful selection of porphyria-safe therapeutic strategies are critical to prevent complications and optimize clinical outcomes.”
The study, “Right Gonadal Vein Thrombosis in Acute Intermittent Porphyria: A Rare Thrombotic Complication,” was published in Cureus.
AIP is a rare disorder marked by painful, episodic attacks
AIP is a rare genetic disorder that causes episodic attacks, typically marked by severe abdominal pain, along with a range of neurological and gastrointestinal symptoms such as nausea, vomiting, and autonomic disturbances. Clotting disorders are generally not considered to be a main feature of AIP, but some patients may be at risk of these complications due to factors like infection, reduced mobility during attacks, or other underlying risk factors.
In this study, researchers reported the case of a 53-year-old woman who had previously been diagnosed with AIP. She also had a history of type 2 diabetes and recurrent blood clots, including deep vein thromboses (potentially dangerous clots that form in large blood vessels, usually in the legs or pelvis).
The woman sought medical attention due to pain in her pelvis and lower back. She reported that the pain was sharp, constant, and had been getting gradually worse over the prior week. Upon evaluation, she was also found to have an ulcerated lesion on her abdomen. She also experienced nausea and diarrhea for three days, fever for two days, and vomiting for one day.
The woman and her care team initially suspected that her pain was caused by an AIP flare. However, a CT scan revealed that she had GVT, which is a rare clotting condition that most often occurs after childbirth. The imaging also showed a nonocclusive pulmonary embolism, or a clot in the lung.
Imaging reveals rare clot after symptoms raised concern for flare
Following this discovery, the woman was started on anti-clotting therapy. She was also given AIP-safe antibiotics to manage her abdominal ulcer while a possible infection was being evaluated, along with supportive care such as pain relief. With these treatments, her condition gradually improved, and she was eventually discharged from the hospital. Due to her history of clots, she was prescribed long-term treatment with the anti-clotting medication warfarin.
The researchers said their case highlights the importance of careful evaluation for AIP patients with symptoms that may indicate a clotting complication.
“This case underscores the importance of maintaining a high index of suspicion for GVT in patients with AIP who present with new, unexplained lower abdominal or groin pain. The overlap between typical AIP symptoms and manifestations of [clotting disorders] can obscure diagnosis, potentially delaying appropriate management,” they concluded.
