Familial risks in and between stone diseases: sialolithiasis, urolithiasis and cholelithiasis in the population of Sweden

Kari Hemminki,Jan Sundquist,Xinjun Li,Asta Försti,Kristina Sundquist,Otto Hemminki,Anni I M Koskinen

doi:10.1186/s12882-018-0945-y

Abstract

BackgroundAccording to the literature the three stone diseases, sialolithiasis (SL), urolithiasis (UL) and cholelithiasis (CL) share comorbidities. We assess familial and spouse risks between these stone disease and compare them to familial risks for concordant (same) stone disease.MethodsStudy population including familiar relationships was obtained from the Swedish Multigeneration Register and stone disease patients were identified from nation-wide medical records. Standardized incidence ratios (SIRs) were calculated for 0–83 year old offspring when their first-degree relatives were diagnosed with stone disease and the rates were compared to individuals without a family history of stone disease. Numbers of offspring with SL were 7906, for UL they were 170,757 and for CL they were 204,369.ResultsSIRs for concordant familial risks were 2.06 for SL, 1.94 for UL and 1.82 for CL. SIRs for SL and UL were slightly higher for women than for men. Familial risks between stone diseases were modest. The highest risk of 1.17 was for UL when family members were diagnosed with CL, or vice versa. The SIR for UL was 1.15 when family members were diagnosed with SL. Familial risks among spouses were increased only for UL-CL pairs (1.10).ConclusionsFamilial risks for concordant SL were 2.06 and marginally lower for the other diseases. Familial risks between stone diseases were low but higher than risks between spouses. The data show that familial clustering is unique to each individual stone disease which would imply distinct disease mechanisms. The results cast doubt on the reported comorbidities between these diseases.

Highlights

According to the literature the three stone diseases, sialolithiasis (SL), urolithiasis (UL) and cholelithiasis (CL) share comorbidities
Urolithiasis (UL) or urinary tract stone disease covering stones in the kidney, ureter or bladder is a common disease with between 1 and 15% of people globally affected at some point in their life with the condition and the disease prevalence is increasing [7, 8]
The median ages for all stone disease were in the 40s for offspring and in the 50s for parents

Summary

Introduction

According to the literature the three stone diseases, sialolithiasis (SL), urolithiasis (UL) and cholelithiasis (CL) share comorbidities. Sialolithiasis (SL) is a condition where a calcified mass (sialolith, salivary calculi or salivary stone) forms within the ducts of salivary glands [1, 2]. Inflammation, diabetes and Sjögren syndrome [5]. Urolithiasis (UL) or urinary tract stone disease covering stones in the kidney (nephrolithiasis), ureter or bladder is a common disease with between 1 and 15% of people globally affected at some point in their life with the condition and the disease prevalence is increasing [7, 8]. Risk factors include high urine calcium levels, obesity, certain foods, some medications, calcium supplements, hyperparathyroidism, gout, diabetes, hypertension, not drinking enough fluids and family history [8, 9]. Cholelithiasis (CL) or gallstone disease is the most common of these three and some 10 to 20% of the populations in western

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