Hyperparathyroidism

Metadata

Name	Hyperparathyroidism (PTH)
Category	Endocrine
Sex
Adult	Yes
UUID	3202abaf-2a35-4e85-a027-dbd5a3a8a109
Definition	Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone.

Ontologies

Disease Ontology (DOID)	DOID_13543
GWAS Catalogue	EFO_0008506
MeSH	D006961
SNOMED-CT	66999008
FinnGen	E4_HYPERPARA

Key Summary Statistics

Cases from any source

Total	2528
Female (%)	1882 (74%)
Male (%)	646 (26%)

Year first recorded

Cases linked in all UK Biobank sources

Cross-source concordance

Vertical bars correspond to number of cases per source/intersection; horizontal bars to left correspond to total number of cases per source.

Incidence & prevalence

Baseline prevalence stratified by sex

Female	20.04 (17.03,23.05)
Male	9.52 (7.26,11.78)

Incidence stratified by sex

Female	5.64 (5.02,6.26)
Male	1.66 (1.3,2.03)

Incidence stratified by age

Ages 40-44	0.6 (0.12,1.09)
Ages 45-49	2.0 (1.25,2.76)
Ages 50-54	2.47 (1.7,3.25)
Ages 55-59	3.12 (2.33,3.91)
Ages 60-64	5.51 (4.6,6.41)
Ages 65-69	6.25 (5.15,7.35)

Period prevalence

Methods

Comparison with general population

Sex-standardised prevalence from CALIBER study (Kuan et al. 2019)

Population	Ages 40-49	Ages 50-59	Ages 60-69
UK Biobank	14 (11,18)	27 (23,31)	49 (44,53)
CALIBER	12 (11,13)	23 (21,24)	41 (39,43)

Stratified by age and Townsend deprivation status

Deprivation status	Ages 40-49	Ages 50-59	Ages 60-69
Least deprived	10(4,20)	23(15,32)	39(31,49)
Low	13(6,24)	22(15,32)	50(41,61)
Medium	4(1,11)	29(21,40)	44(35,55)
High	22(14,34)	32(23,43)	51(41,62)
Most deprived	18(11,28)	30(21,40)	62(51,76)

Stratified by age and country

Country	Ages 40-49	Ages 50-59	Ages 60-69
England	14(11,19)	25(21,30)	47(43,53)
Scotland	11(4,24)	17(10,28)	41(30,54)
Wales	16(5,37)	61(42,86)	77(57,100)

Risk factors analysis

‘Healthy’ BMI, smoking status ‘never’, or no hypertension (absence of hypertension records) were considered as reference values.

Hazard Ratio (HR) values with P < 0.0002 were considered to show significant association with disease onset after correction for multiple-testing using the Bonferroni method

N=153646, Events=402

Factor	Level	Hazard Ratio	P value
BMI	overweight	1.07 (0.82, 1.39)	0.637
BMI	obese	2.13 (1.65, 2.77)	1.06e-08
BMI	underweight	0 (0, Inf)	0.986
smoking	previous	1.48 (1.19, 1.85)	0.000498
smoking	current	2.47 (1.87, 3.26)	1.43e-10
hypertension	yes	2.21 (1.8, 2.72)	5.76e-14

Definition

UK Biobank field id	Description	Code	Value
20002	Non-cancer illness code, self-reported	1611	hyperparathyroidism
41202	Diagnoses - main ICD10	E21.0	Primary hyperparathyroidism
41202	Diagnoses - main ICD10	E21.1	Secondary hyperparathyroidism, not elsewhere classified
41202	Diagnoses - main ICD10	E21.2	Other hyperparathyroidism
41202	Diagnoses - main ICD10	E21.3	Hyperparathyroidism, unspecified
41204	Diagnoses - secondary ICD10	E21.0	Primary hyperparathyroidism
41204	Diagnoses - secondary ICD10	E21.1	Secondary hyperparathyroidism, not elsewhere classified
41204	Diagnoses - secondary ICD10	E21.2	Other hyperparathyroidism
41204	Diagnoses - secondary ICD10	E21.3	Hyperparathyroidism, unspecified
40001	Underlying (primary) cause of death: ICD10	E21.0	Primary hyperparathyroidism
40001	Underlying (primary) cause of death: ICD10	E21.1	Secondary hyperparathyroidism, not elsewhere classified
40001	Underlying (primary) cause of death: ICD10	E21.2	Other hyperparathyroidism
40001	Underlying (primary) cause of death: ICD10	E21.3	Hyperparathyroidism, unspecified
40002	Contributory (secondary) causes of death: ICD10	E21.0	Primary hyperparathyroidism
40002	Contributory (secondary) causes of death: ICD10	E21.1	Secondary hyperparathyroidism, not elsewhere classified
40002	Contributory (secondary) causes of death: ICD10	E21.2	Other hyperparathyroidism
40002	Contributory (secondary) causes of death: ICD10	E21.3	Hyperparathyroidism, unspecified
42040	GP clinical event records	C120000	Primary hyperparathyroidism
42040	GP clinical event records	C120100	Hyperparathyroid bone disease
42040	GP clinical event records	C120111	Osteitis fibrosa cystica
42040	GP clinical event records	C120112	Von Recklinghausen’s bone disease
42040	GP clinical event records	C120200	Tertiary hyperparathyroidism
42040	GP clinical event records	C120.00	Hyperparathyroidism
42040	GP clinical event records	C120.11	Osteitis fibrosa cystica
42040	GP clinical event records	C120.12	Von Recklinghausen’s bone disease
42040	GP clinical event records	C1z3100	Ectopic hyperparathyroidism
42040	GP clinical event records	Cyu4100	[X]Other hyperparathyroidism
42040	GP clinical event records	K08y100	Secondary hyperparathyroidism
42040	GP clinical event records	N332500	Brown tumour of hyperparathyroidism
42040	GP clinical event records	X40RF	Hyperparathyroid bone disease
42040	GP clinical event records	X40KJ	Primary hyperparathyroidism
42040	GP clinical event records	X40KN	Tertiary hyperparathyroidism
42040	GP clinical event records	XE10M	Hyperparathyroidism