Table 1.

Subject Demographics

Subject No.	Gender	Age at Presentation	Phosphorus at Presentation	Intact FGF23 at Presentation	Disease-Related Complications
1	Female	29	1.5	1242	Pain, weakness, fractures1, osteomalacia on biopsy
22	Female	31	1.6	92	Rickets (childhood presentation), weakness, amputation2
3	Female	41	1.2	734	Pain, low bone mineral density3
4	Male	50	2	329	Weakness, fractures, ankle edema4, muscle atrophy
5	Male	46	1.8	355	Fractures, falls
65	Male	51	1.8	88	Pain, fractures, weakness
7	Male	61	1.6	890	Pain, fractures, osteomalacia on biopsy
8	Male	59	2	132	Pain, weakness
9	Male	50	1.6	1684	Pain, muscle atrophy, weight loss, osteomalacia on biopsy
106	Male	46	1.2	84	Weakness, pain, fractures
11	Male	57	2.1	473	Pain, low bone mineral density
12	Male	50	1.6	119	Pain, weakness, gait abnormality, low bone mineral density
13	Male	39	1.8	1113	Ankle edema, pain, difficulty ambulating, fractures
14	Female	55	1.2	406	Fractures, pain, low bone mineral density
15	Male	44	1.6	353	Pain, fractures, stiffness, low bone mineral density
16	Male	44	1.8	95	Fractures, weakness, muscle atrophy
17	Male	33	2.2	146	Pain, weakness, fractures
18	Male	17	1.6	110	Pain, fractures, low bone mineral density
19	Male	37	1.8	290	Pain
20	Female	51	1.2	472	Weakness, pain
21	Female	47	1.9	1029	Pain, fractures
22	Female	62	2.0	156	Fatigue, pain, fractures, low bone mineral density
23	Male	67	1.4	1344	Pain, weakness, ankle edema, fractures, low bone mineral density
24	Female	18	1.4	76	Pain, weakness, myalgia, fractures, weight loss
25	Male	59	1.3	345	Pain
26	Female	14	1.6	177	Ankle edema, pain, fractures, weakness, muscle spasms
27	Male	57	2.1	294	Weakness, pain, falls, cramps, tetany
28	Female	66	1.6	2742	Falls, fractures, weakness, pain, fatigue
29	Male	48	2	482	Pain, fatigue, height loss
30	Female	49	1.9	535	Fractures, weakness, fatigue, pain, stiffness, gait abnormality
317	Male	50	1.8	81	Fractures, fatigue, pain, muscle spasms, low bone mineral density
M:F	20:11		Reference Range: 2.5-4.8 mg/dl	Reference Range: 10-50 pg/ml
Mean		48.5	1.7	337
Median		47	1.69	546.4
Range		14-67	1.2-2.2	76-2742

¹Most common fracture locations included ribs/clavicle, femur/pelvis, followed by back/vertebral compression fractures leading to height loss. Fractures were often characterized as “slow-healing”.

²Subject previously treated outside and presented to NIH with metastatic disease following persistent disease after amputation

³Low bone mineral density refers to either a Z-score of ≤ −2.0 when the study was performed at NIH or as reported in referral data.

⁴Ankle edema (bilateral or unilateral) was an unexplained, but surprisingly common finding among patients who otherwise had no evidence of heart failure or renal insufficiency.

⁵Subject previously treated outside, presented to NIH with recurrent disease, and eventually developed pulmonary metastases

⁶Subject previously treated outside and presented to NIH locally persistent

⁷Patient presented with clinical features consistent with Cowden syndrome however PTEN mutation testing was negative.