Renal infarction due to combination of fibromuscular dysplasia and factor V Leiden mutation

Sir,

The clinical presentation of acute onset of nausea, vomiting and flank pain in combination with acute elevation of blood pressure should raise high suspicion of renal infarction. We describe a patient with these symptoms and signs who had renovascular disease due to an unusual origin.

A 37-year-old former healthy man was admitted to the hospital due to acute and severe pain in the right upper abdomen. He was a non-smoker and was not taking any regular medications. Physical examination revealed elevated blood pressure (180/100 mmHg) and diffuse abdominal tenderness. Chemistry at admission was unremarkable besides mild hypercholesterolaemia (219 mg/dl). Blood count, erythrocyte sedimentation rate and C-reactive protein were in the normal range.

Abdominal X-ray, ultrasound and gastroscopy were unremarkable. The pain was relieved by opioids only for a few hours, and repetition of laboratory examinations disclosed progressive elevation of lactate dehydrogenase, reaching a peak of 1180 U/l. Furthermore, creatinine was rising to 1.3 mg/dl and urinary protein excretion increased to 0.88 g in 24 h. Magnetic resonance (MR) imaging of the kidneys showed several infarcted areas of the right kidney. Therapy with aspirin (100 mg/day), low-molecular-weight heparin (enoxaparin 80 mg b.i.d.) and lisinopril (5 mg/day) was begun. MR angiography, revealing stenotic lesions in the main renal artery and in the intrarenal branches on the right side, led to the differential diagnosis of vasculitis or fibromuscular dysplasia (FMD). Subsequently, arteriography was performed, demonstrating two mild stenotic and one dilated lesion in the right main renal artery and thrombotic occlusions of two segmental arteries in the upper part and of nearly all interlobar and arcuate arteries of the right kidney. Furthermore, the interlobar arteries of the left kidney and the right colonic artery presented with a ‘string of beads’ appearance (Figure 1).



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Fig. 1. Selective angiogram of the right kidney showing mild stenotic and dilated lesions and thrombotic occlusions

 
The results of arteriography and the negative serological markers of vasculitis led to the diagnosis of FMD which had caused infarction of the right kidney. Due to the very rare nature of this disorder and the angiographic appearance of thrombotic occlusions of the intrarenal branches, a search for underlying thrombophilia was undertaken, using a second-generation coagulation assay to test for activated protein C (APC) resistance. A diagnosis of APC resistance could be established in our patient as the ratio was low and genotyping showed heterozygosity for the factor V Leiden mutation. Due to this diagnosis, aspirin was stopped and oral anticoagulation with phenprocoumon was initiated. In the following 3 months, the patient was asymptomatic. Serum creatinine and urinary protein excretion returned to normal values.

FMD is an uncommon, genetic non-inflammatory vascular disease affecting small to medium-sized vessels. Renal artery involvement is most common, leading to renovascular hypertension [1]. Progression of FMD to renal infarction is rare [2,3]. APC resistance represents the most common cause of hereditary thrombophilia. The major clinical manifestation is deep vein thrombosis [4]. An association between APC resistance and arterial thrombosis has not been well established.

To our knowledge, a combination of FMD and APC resistance, leading to renal infarction, has not been reported in the medical literature until now. Therapy consisting of blood pressure control and oral anticoagulation was successful in our patient. We conclude that this case report reminds us of the acute clinical presentation of FMD and that it might be of clinical relevance to investigate for APC resistance in patients with renal infarction.

Conflict of interest statement. None declared.

Andreas Kirchgatterer1, Herbert Lugmayr2, Gerold Aspöck3, Manfred Wallner4 and Peter Knoflach1

1First Department of Medicine 2First Institute of Radiology 3First Institute of Laboratory Medicine 4Third Department of Medicine General Hospital A-4600 Wels, Austria Email: andreas.kirchgatterer{at}khwels.at

References

  1. Begelman SM, Olin JW. Fibromuscular dysplasia. Curr Opin Rheumatol 2000;12: 41–47[CrossRef][ISI][Medline]
  2. Schreiber MJ, Pohl MA, Novick AC. The natural history of atherosclerotic and fibrous renal artery disease. Urol Clin North Am 1984;11: 383–392[ISI][Medline]
  3. Salif MO, Gordon DH, Friedman EA, Delano BG. Bilateral renal infarction in a black man with medial fibromuscular dysplasia. Am J Kidney Dis 2000;36: 184–189[ISI][Medline]
  4. Bertina RM, Koeleman BP, Koster T et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369: 64–67[CrossRef][ISI][Medline]




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