X-Linked hypophosphatemic rickets: A disease often unknown to affected patients

Michael Econs, G. P. Samsa, M. Monger, M. K. Drezner, J. R. Feussner

Research output: Contribution to journalArticle

34 Citations (Scopus)

Abstract

X-Linked hypophosphatemic rickets (XLH) is an X-linked dominant disorder that is secondary to renal phosphate wasting. Affected individuals frequently present the following characteristics: short stature, lower-extremity deformity, bone pain, dental abscesses, enthesopathy, rickets, and osteomalacia. Since the disorder is characterized by evident phenotypic abnormalities, we hypothesized that there would be a high degree of knowledge about the disease in affected kindreds. Thus, we constructed a six-page, self-administered questionnaire to determine whether family members are, in fact, aware of their disease and properly diagnosed and treated. We also designed the survey to determine rates of symptoms thought to be associated with rickets/osteomalacia in a population with a lower referral bias than is usually seen in tertiary care centers. We administered the questionnaire to 234 study subjects (57 affected) who were members of one of three large kindreds. Although 62% of affected individuals knew they had some problem with their bones, only 22.6% were told by a physician that they had rickets or osteomalacia. This apparent lack of awareness occurred in spite of 61.1% of affected subjects complaining of bone or joint problems to their personal physician. Indeed, of those patients who had persistent complaints, only 34.5% were told they had rickets or osteomalacia. Only one patient was taking phosphate and vitamin D. The spectrum of symptoms evident in affected subjects compared with normals included: dental abscesses (54.5% vs. 13.0%, P <0.001), bone pain (45.5% vs. 28.2%, P = 0.027), back pain (51.8% vs. 35.1%, P = 0.036), joint stiffness (48.2% vs. 16.8%, P <0.001), joint pain (55.4% vs. 31.1%, P = 0.003), weakness (25.0% vs. 10.7%, P = 0.023), and hearing loss (28.6% vs. 9.8%, P = 0.002). Surprisingly, although affected individuals complained of many symptoms due to XLH, they fractured bones less frequently than controls (20% vs. 38.1%, P = 0.018). Our data demonstrate that, despite the presence of disease in family members, few affected subjects knew that they had XLH. Although the presence of symptoms did increase knowledge of disease status, only one-third of symptomatic individuals knew of their diagnosis.

Original languageEnglish (US)
Pages (from-to)17-24
Number of pages8
JournalBone and Mineral
Volume24
Issue number1
StatePublished - 1994
Externally publishedYes

Fingerprint

Familial Hypophosphatemic Rickets
Osteomalacia
Rickets
Bone
Bone and Bones
Abscess
Tooth
Bones of Lower Extremity
Joints
Phosphates
Physicians
Pain
Arthralgia
Back Pain
Hearing Loss
Tertiary Care Centers
Vitamin D
Audition
Referral and Consultation
Kidney

Keywords

  • diagnosis
  • fracture
  • hypophosphatemia
  • osteomalacia
  • X-linked hypophosphatemia

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology
  • Surgery

Cite this

Econs, M., Samsa, G. P., Monger, M., Drezner, M. K., & Feussner, J. R. (1994). X-Linked hypophosphatemic rickets: A disease often unknown to affected patients. Bone and Mineral, 24(1), 17-24.

X-Linked hypophosphatemic rickets : A disease often unknown to affected patients. / Econs, Michael; Samsa, G. P.; Monger, M.; Drezner, M. K.; Feussner, J. R.

In: Bone and Mineral, Vol. 24, No. 1, 1994, p. 17-24.

Research output: Contribution to journalArticle

Econs, M, Samsa, GP, Monger, M, Drezner, MK & Feussner, JR 1994, 'X-Linked hypophosphatemic rickets: A disease often unknown to affected patients', Bone and Mineral, vol. 24, no. 1, pp. 17-24.
Econs M, Samsa GP, Monger M, Drezner MK, Feussner JR. X-Linked hypophosphatemic rickets: A disease often unknown to affected patients. Bone and Mineral. 1994;24(1):17-24.
Econs, Michael ; Samsa, G. P. ; Monger, M. ; Drezner, M. K. ; Feussner, J. R. / X-Linked hypophosphatemic rickets : A disease often unknown to affected patients. In: Bone and Mineral. 1994 ; Vol. 24, No. 1. pp. 17-24.
@article{bbf7d66d490d4af6a82b9afb24e122e2,
title = "X-Linked hypophosphatemic rickets: A disease often unknown to affected patients",
abstract = "X-Linked hypophosphatemic rickets (XLH) is an X-linked dominant disorder that is secondary to renal phosphate wasting. Affected individuals frequently present the following characteristics: short stature, lower-extremity deformity, bone pain, dental abscesses, enthesopathy, rickets, and osteomalacia. Since the disorder is characterized by evident phenotypic abnormalities, we hypothesized that there would be a high degree of knowledge about the disease in affected kindreds. Thus, we constructed a six-page, self-administered questionnaire to determine whether family members are, in fact, aware of their disease and properly diagnosed and treated. We also designed the survey to determine rates of symptoms thought to be associated with rickets/osteomalacia in a population with a lower referral bias than is usually seen in tertiary care centers. We administered the questionnaire to 234 study subjects (57 affected) who were members of one of three large kindreds. Although 62{\%} of affected individuals knew they had some problem with their bones, only 22.6{\%} were told by a physician that they had rickets or osteomalacia. This apparent lack of awareness occurred in spite of 61.1{\%} of affected subjects complaining of bone or joint problems to their personal physician. Indeed, of those patients who had persistent complaints, only 34.5{\%} were told they had rickets or osteomalacia. Only one patient was taking phosphate and vitamin D. The spectrum of symptoms evident in affected subjects compared with normals included: dental abscesses (54.5{\%} vs. 13.0{\%}, P <0.001), bone pain (45.5{\%} vs. 28.2{\%}, P = 0.027), back pain (51.8{\%} vs. 35.1{\%}, P = 0.036), joint stiffness (48.2{\%} vs. 16.8{\%}, P <0.001), joint pain (55.4{\%} vs. 31.1{\%}, P = 0.003), weakness (25.0{\%} vs. 10.7{\%}, P = 0.023), and hearing loss (28.6{\%} vs. 9.8{\%}, P = 0.002). Surprisingly, although affected individuals complained of many symptoms due to XLH, they fractured bones less frequently than controls (20{\%} vs. 38.1{\%}, P = 0.018). Our data demonstrate that, despite the presence of disease in family members, few affected subjects knew that they had XLH. Although the presence of symptoms did increase knowledge of disease status, only one-third of symptomatic individuals knew of their diagnosis.",
keywords = "diagnosis, fracture, hypophosphatemia, osteomalacia, X-linked hypophosphatemia",
author = "Michael Econs and Samsa, {G. P.} and M. Monger and Drezner, {M. K.} and Feussner, {J. R.}",
year = "1994",
language = "English (US)",
volume = "24",
pages = "17--24",
journal = "Bone and Mineral",
issn = "0169-6009",
publisher = "Elsevier BV",
number = "1",

}

TY - JOUR

T1 - X-Linked hypophosphatemic rickets

T2 - A disease often unknown to affected patients

AU - Econs, Michael

AU - Samsa, G. P.

AU - Monger, M.

AU - Drezner, M. K.

AU - Feussner, J. R.

PY - 1994

Y1 - 1994

N2 - X-Linked hypophosphatemic rickets (XLH) is an X-linked dominant disorder that is secondary to renal phosphate wasting. Affected individuals frequently present the following characteristics: short stature, lower-extremity deformity, bone pain, dental abscesses, enthesopathy, rickets, and osteomalacia. Since the disorder is characterized by evident phenotypic abnormalities, we hypothesized that there would be a high degree of knowledge about the disease in affected kindreds. Thus, we constructed a six-page, self-administered questionnaire to determine whether family members are, in fact, aware of their disease and properly diagnosed and treated. We also designed the survey to determine rates of symptoms thought to be associated with rickets/osteomalacia in a population with a lower referral bias than is usually seen in tertiary care centers. We administered the questionnaire to 234 study subjects (57 affected) who were members of one of three large kindreds. Although 62% of affected individuals knew they had some problem with their bones, only 22.6% were told by a physician that they had rickets or osteomalacia. This apparent lack of awareness occurred in spite of 61.1% of affected subjects complaining of bone or joint problems to their personal physician. Indeed, of those patients who had persistent complaints, only 34.5% were told they had rickets or osteomalacia. Only one patient was taking phosphate and vitamin D. The spectrum of symptoms evident in affected subjects compared with normals included: dental abscesses (54.5% vs. 13.0%, P <0.001), bone pain (45.5% vs. 28.2%, P = 0.027), back pain (51.8% vs. 35.1%, P = 0.036), joint stiffness (48.2% vs. 16.8%, P <0.001), joint pain (55.4% vs. 31.1%, P = 0.003), weakness (25.0% vs. 10.7%, P = 0.023), and hearing loss (28.6% vs. 9.8%, P = 0.002). Surprisingly, although affected individuals complained of many symptoms due to XLH, they fractured bones less frequently than controls (20% vs. 38.1%, P = 0.018). Our data demonstrate that, despite the presence of disease in family members, few affected subjects knew that they had XLH. Although the presence of symptoms did increase knowledge of disease status, only one-third of symptomatic individuals knew of their diagnosis.

AB - X-Linked hypophosphatemic rickets (XLH) is an X-linked dominant disorder that is secondary to renal phosphate wasting. Affected individuals frequently present the following characteristics: short stature, lower-extremity deformity, bone pain, dental abscesses, enthesopathy, rickets, and osteomalacia. Since the disorder is characterized by evident phenotypic abnormalities, we hypothesized that there would be a high degree of knowledge about the disease in affected kindreds. Thus, we constructed a six-page, self-administered questionnaire to determine whether family members are, in fact, aware of their disease and properly diagnosed and treated. We also designed the survey to determine rates of symptoms thought to be associated with rickets/osteomalacia in a population with a lower referral bias than is usually seen in tertiary care centers. We administered the questionnaire to 234 study subjects (57 affected) who were members of one of three large kindreds. Although 62% of affected individuals knew they had some problem with their bones, only 22.6% were told by a physician that they had rickets or osteomalacia. This apparent lack of awareness occurred in spite of 61.1% of affected subjects complaining of bone or joint problems to their personal physician. Indeed, of those patients who had persistent complaints, only 34.5% were told they had rickets or osteomalacia. Only one patient was taking phosphate and vitamin D. The spectrum of symptoms evident in affected subjects compared with normals included: dental abscesses (54.5% vs. 13.0%, P <0.001), bone pain (45.5% vs. 28.2%, P = 0.027), back pain (51.8% vs. 35.1%, P = 0.036), joint stiffness (48.2% vs. 16.8%, P <0.001), joint pain (55.4% vs. 31.1%, P = 0.003), weakness (25.0% vs. 10.7%, P = 0.023), and hearing loss (28.6% vs. 9.8%, P = 0.002). Surprisingly, although affected individuals complained of many symptoms due to XLH, they fractured bones less frequently than controls (20% vs. 38.1%, P = 0.018). Our data demonstrate that, despite the presence of disease in family members, few affected subjects knew that they had XLH. Although the presence of symptoms did increase knowledge of disease status, only one-third of symptomatic individuals knew of their diagnosis.

KW - diagnosis

KW - fracture

KW - hypophosphatemia

KW - osteomalacia

KW - X-linked hypophosphatemia

UR - http://www.scopus.com/inward/record.url?scp=0028273206&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028273206&partnerID=8YFLogxK

M3 - Article

C2 - 8186731

AN - SCOPUS:0028273206

VL - 24

SP - 17

EP - 24

JO - Bone and Mineral

JF - Bone and Mineral

SN - 0169-6009

IS - 1

ER -