Patients suffering from different forms of acute hepatic porphyria present a high risk of primary liver cancer, specifically hepatocellular carcinoma and cholangiocarcinoma, determined by the activity of the disease even though an exact mechanism of carcinogenesis has not been recognized yet. Here, we present the clinical case of a 72-year-old woman who, approximately 29 years after the diagnosis of acute intermittent porphyria, presented with intrahepatic cholangiocarcinoma with a histological diagnosis of adenocarcinoma starting from the biliary-pancreatic ducts, which was diagnosed during the clinical and anatomopathological evaluation of a pathological fracture of the femur.

Background: As spontaneous renal artery dissection (SRAD) is a rare cause of abdominal pain, bilateral dissection is an extremely rare event. Only approximately two hundred cases of SRAD have been reported in the literature. The diagnosis is often delayed due to the rarity of the disease and non-specific clinical presentations such as flank pain, hypertension, fever, nausea, vomiting, and hematuria, which can be often misdiagnosed as a genito-urinary infection or gastrointestinal or bowel disease. Before 1980, the diagnosis of SRAD was mostly confirmed via autopsy or, rarely, via angiography. At present, the diagnosis is made using advanced imaging approaches, including computed tomography angiography (CTA) and magnetic resonance angiography (MRA), with a higher number of incidentally diagnosed SRADs. Methods: we performed laboratory tests and radiological examinations (computed abdominal tomography and multiplanar reconstruction) that revealed multiple infarctions and ischemic areas with hypoperfusion in the upper middle third of the left kidney and in a large part of middle and lower areas of the right kidney; the left renal artery exhibited increased intimal thickening and arteritis. Results: The multiplanar reconstruction revealed bilateral renal artery dissection and multiple arterial infarctions disseminated throughout both kidneys. After a clinical follow-up and hypertension retargeting, the patient was discharged with dual antiplatelet therapy and ACE inhibitor drugs. No lipid-lowering therapy was needed. Conclusions: Spontaneous renal artery dissection (SRAD) is a rare clinical event that typically presents with acute low-back or flank pain, hypertension, fever, hematuria, and acute renal failure. The condition could be misdiagnosed or receive a delayed diagnosis due to its relative rarity and non-specific presentation. The gold standard is enhanced computed tomography (CT) scans, and if the diagnosis is positive, vascular multiplanar reconstruction is generally suggested, as it can display lesions more clearly. Over 300 cases have been reported since the first characterization of SRAD; however, to date, a consensus has not been reached on the most appropriate treatment. Conservative therapy, open surgery, and intravascular intervention have been reported as treatments for SRAD.

This study examines the ability of infrared thermography (IRT) to distinguish vasculopathy patients (VP) from healthy controls (HC) during post-occlusive reactive hyperemia (PORH). Three VP and three HC participated in the study. The experimental procedure included a 3-min baseline, a 5-min occlusion at 50 mmHg above the systolic pressure, and a 3-min reperfusion. During PORH, HC had a larger temperature fluctuation of the fingertips from the baseline (1.22 ± 0.97 °C) compared to VP (0.53 ± 0.57 °C). Accordingly, color Doppler ultrasound assessed differences in the arterial resistivity index between the two groups. These findings, albeit preliminary, could facilitate IRT employment during POHR.

Porphyrias are human metabolic diseases characterized by different modes of inheritance and clinical manifestations and caused by deficiency of enzymes of the heme biosynthetic pathway. The forms of porphyria are characterized by elevated levels of δ-aminolevulinic acid and porphobilinogen. Acute hepatic porphyrias are a subgroup of porphyrias characterized by the appearance of neurovisceral attacks with or without cutaneous signs. Acute hepatic porphyrias include four diseases: acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and hereditary δ-aminolevulinic acid dehydratase deficiency. These enzymatic deficiencies cause a harmful accumulation of porphyrins in the liver and bone marrow that trigger a wide range of signs and symptoms. Patients suffering from different forms of acute hepatic porphyria present a high risk of liver cancer, precisely hepatocellular carcinoma and cholangiocarcinoma, determined by the activity of the disease even though an exact mechanism of carcinogenesis has not been recognized yet. Here, we present the clinical case of a 72 year old woman who, approximately 29 years after the diagnosis of acute intermittent porphyria, presented with intrahepatic cholangiocarcinoma with histological diagnosis of adenocarcinoma starting from the biliary-pancreatic ducts, which was diagnosed during the clinical and anatomopathological evaluation of a pathological fracture of the femur.