Non-traumatic renal haemorrhage into the subcapsular and perinephric space is rare especially if it occurs after exercise. This condition is also known as Wunderlich’s syndrome, which can be caused by renal neoplasms including HLRCC (61.2%), idiopathic causes (38%), vascular diseases (17%), infection (2.4%), and miscellaneous (12.7%) . The classic presentation includes Lenk’s triad of flank pain, abdominal mass and hypovolaemic shock. HLRCC is a condition caused by germline heterozygous mutation in the FH gene, an enzyme that is part of the tricarboxylic acid cycle, which catalyzes the conversion of fumarate to malate. This mutation results in the accumulation of substrate fumarate in the system. The mechanism by which FH acts as a tumour suppressor gene is still unknown; however, there are hypotheses that state hypoxia-induced metabolic pathway is involved in oncogenesis . It is a very rare disorder, affecting male and females equally but postulated to be underreported due to its rarity and lack of awareness among clinicians . This patient and his family, however, have been successfully diagnosed much earlier but unfortunately defaulted follow-up and presented with this uncommon complication.
HLRCC is identified by three main characteristics, namely (a) multiple cutaneous piloleiomyomas, (b) multiple early onset uterine leiomyomas among females, and (c) an early onset form of type 2 papillary renal cell cancer. Our patient belongs to the group absent of cutaneous manifestations, instead had a renal tumour. Due to the risk of developing an aggressive form of renal cancer, early genetic testing by predictive FH mutation beginning at the age of 16 to 18 years old and in confirmed cases of HLRCC, annual kidney MRI has been recommended . Up to date, there is no available tumour marker for screening of HLRCC .
Treatment should be initiated as a life-saving procedure by giving fluid resuscitation, blood transfusion and reversal of coagulopathy to ensure optimized bodily functions. For patients in shock or ongoing bleeding, immediate treatment is mandatory by selective arterial embolization and/or operative management such as nephrectomy . The earlier treatment can be performed aiming for preservation of functional renal parenchyma in the presence of interventional radiological expertise. In contrast to embolization, surgery as in our case has the important advantage of allowing for pathologic evaluation for a definitive diagnosis.
Although multiple previous cases have been reported regarding this rare disease, our patient’s presentation demonstrated an aggressive form of renal malignancy, a less common manifestation of HLRCC. Even though he did not have distant metastasis, a younger age of presentation and the complication of tumour rupture is likely a poor prognostic factor. This is the first such case being reported from the South East Asian population, and the first-ever reported case of HLRCC with exercise-induced tumour rupture.