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Osteoprotegerin Deficiency (Juvenile Paget's Disease): Responses To

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Osteoprotegerin Deficiency (Juvenile Paget's Disease): Responses To Osteoprotegerin Deficiency (Juvenile Paget’s Disease): Responses to Oral and IV Bisphosphonates in 3 Children Deborah Wenkert1, Marc D. Natter2, Mayumi Otsuka3, Natalya E. Fish2, Jorge M. Lopez-Benitez2, Morri Markowitz4, William McAlister5, Steven Mumm5, Michael P. Whyte5 1Shriners Hospt Children, St Louis, MO, USA, 2Tufts-New Eng Med Ctr, Boston, MA, USA, 3N. Navajo Med Cntr, Shiprock, NM, USA, 4Montefiore Hospt, Bronx, NY, USA, 5Wash U Sch Med, St Louis, MO, USA. Abstract Patient 1 Patient 2 Patient 3 Discussion Osteoprotegerin (OPG) deficiency, the principal variant of juvenile Paget’s disease, is a rare, JPD, previously called idiopathic or hereditary hyperphosphatasia, presents in infancy, young childhood or, rarely, autosomal recessive osteopathy featuring markedly accelerated bone turnover. Here, we assess in late childhood. It causes deafness, bone pain, fracture, and deformity with x-rays showing undertubulation of responses of 3 affected, unrelated children to bisphosphonate (BP) therapy (Table). long bones with a disorganized trabecular pattern and thin cortices. Rapid rates of skeletal remodeling are demonstrated by histopathology as well as by biochemical markers of bone turnover, including especially Pt #1: A 4 yr old boy of Cypriot descent suffered leg swelling, periosteal elevation, and ESR=74 impressive hyperphosphatasemia. Most JPD patients are homozygous for a loss-of-function mutation in from "Caffey disease" diagnosed at age 1 mo. Alkaline phosphatase (ALP) reached 2470 U/l. TNFRSF11B encoding OPG, including missense defects, insertions/deletions, and frame shifts.(4,5,7,8,11) OPG acts Hearing (normal at birth) was lost by 21 mo. Three fxs and warm, bony expansions deformed all 3 11/12 yrs as a decoy receptor for RANK Ligand, thus suppressing bone turnover. With OPG deficiency, this suppression is limbs. Growth, except head size (OFC), was stunted. On referral, he had weakness, torticollis, lacking or diminished, and thus bone turnover is accelerated. chest and limb deformity, could not sit, and cried when moving. X-rays showed markedly expanded bones, “bowtie” vertebrae, thickened diploic space, and marked coxa vara. One wk OPG deficiency differs from classic Paget’s disease of bone (PDB; OMIM #167250)(1) which typically presents in after 1/3 mg/kg pamidronate (PAM), he sat; 3 weeks after the first 3-dose cycle (total ~2 mg/kg), 7 7/12 yrs 10 11/12 yrs middle-age, and increased skeletal turnover occurs in only one or a few bones.(12) In OPG deficiency, greatly he crawled. After 3 cycles, he stood. Stamina, appetite, mood, torticollis, and mobility 11 3/12 yrs accelerated remodeling manifests in childhood, affects the entire skeleton, and interferes with normal bone growth remarkably improved along with radiographic improvement. and modeling.(2,4,5) In addition, familial Paget’s disease of bone is an autosomal dominant disorder with variable C penetrance, whereas OPG deficiency is autosomal recessive. Pt #2: A 7 yr old girl of Puerto Rican descent seemed well until an atraumatic femoral fx at age The clinical severity of OPG deficiency in our 3 patients seemed to correlate with the anticipated effects of the 2. X-rays showed limb deformities from "Engelmann disease" (ALP 1963 U/l). By referral, she V (4) had 4 fxs (25% ht, 20% wt, 5% arm span, < 5% sitting ht, and > 95% OFC), mild deafness, and S A A specific homozygous TNFRSF11B deletion or mutation. This has been reported in other cases. Our patient 3 is homozygous for deletion of TNFRSF11B (Navajo mutation). (5) In him, lack of OPG biosynthesis engenders high arm pain; leg pain limited walking. Femurs and tibias were bowed. X-rays showed periosteal 4 5/12 yrs (5) elevation, osteopenia, and expanded bones. At age 10, after 1.5 yrs of alendronate, knee pain 7 7/12 yrs 10 11/12 yrs circulating concentrations (and presumably skeletal tissue levels) of unbound RANKL. Our patient 2 is was minimal along with radiographic improvement. 3 11/12 yrs 1 9/12 yrs homozygous for TNFRSF11B c.349T>C,p.F117L [Iberian mutation] found in four patients of Spanish, Portuguese, 1 yr 4 yrs 10 11/12 yrs Argentinian,(4) or Puerto Rican heritage.(4,8) One would predict she would make an altered OPG, thus explaining This 6 lb 9 oz fraternal twin, fussy from birth, screamed when his Pt #3: An 11 yr old, dwarfed, deaf, Navajo boy (NEJM 2002: 347:175) had macrocephaly, and (5) her milder disease. Patient 1 is homozygous for a unique deletion predicted to express no functional OPG, and legs were lifted. Progressive leg swelling at 4 weeks of age was 7 7/12 yrs 7 7/12 yrs This 7lb 7 oz, 19 inch Navajo boy, previously reported, appeared well until a misshapen chest and limb deformity. He became poorly compliant for calcitonin, and declined risedronate. skull and thorax were noted at age 5 mo. At age 1 year, failure to thrive, bone deformities, indeed presented with disease as severe as seen in patient 3. At age 7, PAM was begun (ALP max 2716) with symptom and x-ray improvement. Pt 1 and 2 diagnosed as Caffey’s disease when a radiograph showed and radiographic findings (Fig) led to a diagnosis of JPD. He lost his first tooth at 1 year of 11 3/12 yrs Early attempts to improve the bone quality in JPD included use of sodium fluoride (13) with only mildly encouraging had different, homozygous, loss-of-function defects in exon 2 of TNFRSF11B encoding OPG. Pt periosteal elevation. At 4 mo of age, ESR was 74 and serum This 6 lb 7 oz girl of Puerto Rican descent walked at 14 mo of age and alkaline phosphatase (ALP) was 857 IU/l (150 - 350 nl). At 9 mo age. He was small (below the 3rd percentile for length, and in the 5th percentile for weight), results, and synthetic human calcitonin with some regression of bony abnormalities in childhood. (14,15,16) #1 had a frame-shift, single base deletion (c.278delT), likely forming no functional protein, was well until age 2 2/12 yrs when minimal trauma fractured a femur. of age, a humeral fracture healed with deformity, and refractured tachypneic and weak, and had a disproportionately large head (75th percentile), short humeri, laterally bowed femora, consistent with severe disease. Pt #2 had a missense mutation (c.T349C, p.Phe117Leu) Skeletal survey showed mild “deformity to her extremities”, and she was (17) at 21 mo of age. At 13 mo of age, symptoms improved with 1 mo anterior curved tibiae, markedly delayed gross motor skills, and poor muscle tone. Radiographs showed deformed and In 1992, Spindler et al. reported a positive response to pamidronate in a 38-year-old woman with mild JPD. causing a less severe phenotype. Pt #3 is deleted for OPG. thought to have Engelmann’s disease (progressive diaphyseal of prednisone (0.2 mg/kg), but radiographs worsened. He widened osteopenic long bones with coarse trabeculae and indistinct cortical medullary junctions. There were flattened Elevated serum ALP and urine total hydroxyproline both decreased in response to oral pamidronate. This patient dysplasia). vertebral bodies. His parents were healthy, both of Navajo heritage, with no known consanguinity. Biochemical markers of had previously been given etidronate (EHDP) without a good response. We found six subsequent reports of Children with OPG deficiency show varying responsivity to BPs, reflecting the underlying OPG received Naprosyn for 2 yrs. ALP reached a maximum of 2470 IU/l. Four subsequent fractures occurred (clavicular, humeral, and two radial mineral homeostasis were remarkable for hypercalciuria and increased skeletal turnover. Intermittent compliance with daily bisphosphonate use (etidronate, pamidronate IV and oral, ibandronate, and alendronate) for JPD. In each case, mutation. breaks) and she had persistently elevated ALP (1,553 - 1,963) at times subcutaneous injections of synthetic salmon calcitonin to age 7 led to radiographic and clinical improvement, but with bisphosphonates improved x-ray appearance, increased mobility, and lowered markers of bone turnover; in some At 7 mo of age, he frequently scratched his ears, seemed to be in without a known fracture. persistently active bone disease (Fig). His ALP reached a maximum of 2,716 IU/L. cases, into the normal range. (6, 18, 19, 20-22) pain, and had bloody otorrhea. Hearing, normal at birth (by ABR), Introduction was impaired by 1 ½ years. She lost her first tooth early (age 4) with teeth “discolored and eaten He developed medullary nephrocalcinosis by age 5 which resolved by age 12. Deafness is a known feature of JPD. Computed tomography of our patient 1 showed absence of ossicles despite away.” normal hearing at birth. This is consistent with observations in OPG knockout mice in whom auditory ossicles are JPD, previously called idiopathic hyperphosphatasia (OMIM #239000)(1), is an autosomal By 30 mo of age, he had had recurrent, red, hot, bony expansions resorbed and otic capsules are abnormally remodeled.(5,23) Thus, early intervention to protect hearing seems recessive disorder featuring remarkably accelerated bone turnover affecting the entire (never joint-centered) with residual deformity of all 4 extremities as Skull radiographs showed a thick diploic space and basilar impression. necessary. skeleton.(2) Approximately 50 cases are described in the medical literature.(1,3,4) JPD is well as 3 long bone fractures. Cranial CT for bilateral hearing loss showed abnormal inner ear characterized biochemically by greatly increased serum alkaline phosphatase (ALP) activity structures. The severity of JPD can vary greatly among patients. Thus, the choice of bisphosphonate regime (drug, dose, (hyperphosphatasemia), skeletal deformities, fractures, bone pain, and childhood deafness.(2,5,6) At referral at age 3 11/12 yrs (Fig), he had anorexia, fatigue, and frequency, i.v., oral) should be tailored to each patient based on disease severity and response to treatment.
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