Case of the Month from Rigshospitalet, Copenhagen, Denmark: unexplained gross haematuria.

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This case series describes three patients with recurrent gross haematuria and flank pain who underwent extensive urological and nephrological investigations, ultimately leading to diagnoses of loin pain haematuria syndrome or surgical intervention after excluding other causes.

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This case series from Rigshospitalet details the diagnostic challenges and management of three patients presenting with unexplained gross haematuria and flank pain after extensive negative workups for structural or vascular abnormalities. The authors diagnose these individuals with Loin Pain Haematuria Syndrome (LPHS), a rare exclusion diagnosis characterized by severe pain and bleeding despite normal imaging, endoscopy, and biopsy results. The paper highlights the lack of standardized treatment guidelines, noting that outcomes range from conservative pain management to controversial interventions like nephrectomy, while emphasizing the significant psychosocial burden on patients. Relevance to endometriosis: one patient had prior laparoscopies for abdominal pain where endometriosis was explicitly excluded via MRI, serving as a differential diagnosis context rather than a primary focus of the study.

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Case

A 30‐year‐old female referred to a urologist with gross haematuria and left‐sided flank pain in the spring of 2020. No pathology was identified on CTU, cystoscopy and cytology. Re‐referred to a urologist with persisting symptoms and re‐evaluated after 6 months; cystoscopy and CTU remained normal. A gynaecological consult was normal, and an MRI was performed and excluded endometriosis. Thereafter, the patient had several hospitalisations with acute flank pain and haematuria. The urine varied from gross haematuria with clots to brownish tissue‐like discharge (Fig.  3 ), which always subsided during hospitalisation. Histological examination of the clots showed ‘inflammatory tissue’. Repeated cystoscopy during hospitalisations revealed no pathology in the bladder and no bleeding from the ureteric orifices was demonstrated. No AVM were seen on CT angiography followed by selective renal artery catheterisation. Bilateral nephro‐ureteroscopy was performed and repeated on the left side after 3 months with normal findings. Diagnostic JJ stent was tried without a pain‐modifying effect. The kidney showed no radiographic sign of postural mobility. Bladder biopsy was normal except from inflammation (with JJ stent). Nephrology consult considered glomerular bleeding as unlikely and did not recommend kidney biopsy. Porphyria analysis was normal. No biochemical sign of bleeding disorder was observed, and the haematuria did not cause anaemia. Case #3 – Gross haematuria during loin pain episode. Interestingly, this patient had three diagnostic laparoscopies performed due to acute abdominal pain prior to haematuria. The pain was primarily located to the right side of the abdomen. No pathology was observed, but in one procedure the appendix was removed and in another an ovarian cyst was punctured. Parallel to the abdominal and flank pain the patient also had several contacts with neurology for acute headache. Aneurismal bleedings were ruled out by more CT and MRI scans as well as cerebrospinal fluid examination. During hospitalisations the patient had an increasing demand for opioid pain medication. Several in‐hospital pain management consults were performed to reduce opioid consumption, but this was unsuccessful. Anticonvulsant and antidepressants were tried with some effect. The patient was suspected of having LPHS with a somatoform component and referred to an ambulatory pain management clinic with a multidisciplinary approach. The case is still ongoing. The patient has significant pain, and her social well‐fare is threatened. The psychological evaluation is normal, and we are currently considering auto‐transplantation.

Discussion

We have presented three cases, from the same period, that have been a major clinical challenge for our department. We have learned that unexplained, persistent, symptomatic, haematuria in healthy individuals where standard diagnostic evaluation is normal can require significant resources. Due to the nature of the syndrome, there are no guidelines for managing patients in this situation and it remains unclear what investigations should be performed and as a clinician you are often left ‘searching in the dark’ for new ideas. We believe it is important to consider these patients in a multidisciplinary setting, as it may require input from many different specialities to guide the next investigation. CT angiography and renal catheterisation may reveal rare AVM and direct nephro‐ureteroscopy could reveal small tumours not visible on CTU and is likely needed in all patients, but all entail a risk for the patient in a situation where it remains unlikely that CTU and cystoscopy missed significant findings. Moreover, porphyria or bleeding disorders should be discussed and direct further biochemical investigations. A biopsy of the kidney is controversial in patients with no proteinuria, and otherwise radiographic and biochemically normal kidney, and could be associated with aggravated bleeding. A standard evaluation is suggested in Fig.  4 . If all supplementary investigations are normal, the patient should be suspected of having LPHS, which is a rare clinical condition and exclusion diagnosis. Since its initial description in 1967 [2 ] it has remained poorly understood with no identifiable urinary tract disease. It is characterised by severe, uni‐ or bilateral loin (flank) pain that often radiates toward the abdominal area or medial thigh. Pain duration can vary from hours to a constant pain and is accompanied by intermittent microscopic or gross haematuria. Suggested diagnostic evaluation in patients with persistent haematuria with normal initial investigations and persisting disease. The pathophysiology remains unclear, but may be related to glomerular changes, renal vascular disease, coagulopathy, or renal vasospasm with microinfarction [3 ]. Kidney function is preserved. The existence of LPHS as a distinct pathological entity is challenged by the fact that there is often a suspected underlying psychological/psychiatric condition in these patients. Patients with LPHS are often labelled as having a somatoform pain disorder or drug‐seeking behaviour [4 ]. On the other hand, patients may experience significant pain, which leads to disability and disrupts their everyday life. LPHS is associated with psychosocial comorbidities as well as more episodes of medically unexplained physical symptoms as in Case #3. There is no accepted treatment of LPHS. About 30% of cases experience spontaneous remission over time, as in Case #1, so a conservative treatment seems mandatory initially with a combination of pain medication and bio‐psycho‐social‐directed treatment [ 3 ]. Case #2 underwent unilateral nephro‐ureterectomy, which should be considered controversial in a benign condition but was driven by multiple hospitalisations and anaemia. Reports have demonstrated that LPHS can recur in the contralateral kidney. Nephrectomy may have several medical implications for the individual patient in the remaining lifetime, but surgery is tempting if non‐invasive techniques have failed, and the pain is intolerable. Renal auto‐transplantation is also a surgical option, which has been reported in case series with varying results. There are several ethical aspects with the procedure, including procedure‐related complications, as well possible enhanced perception of somatic disease, when the illness could be of primarily psychiatric character. On the other hand, no cases of treating LPHS with psychological therapy have been reported [ 4 ]. Lastly, surgical techniques such as ureterolysis, ureteric re‐implantation, and renal denervation have been proposed in case series but without long‐lasting effects on pain management. LPHS is rare, but we urge the urological community to consider guidelines for diagnostic evaluation plans and triggers for intervention. As with rare cancers, global or European clinical reference networks could be considered to optimise the clinical outcome and standardise treatment.

Coi Statement

None declared.

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