Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study

Table 1 Clinical characteristics and bleeding score of patients included in the study

	GT	BSS	CHS	HPS	MYH9-RD	CAMT	THC2	SSD	Presumably misdiagnosed	Total
	n = 13	n = 8	n = 2	n = 1	n = 2	n = 1	n = 1	n = 19	n = 23	n = 70
Sex (F/M)	9/4	6/2	1/1	0/1	1/1	0/1	1/0	13/6	16/7	47/23
Age at clinical suspicion/diagnosis (median ± SD)	10 ± 10	12 ± 5	5 ± 1	2	30 ± 21	6	12	29 ± 24	13 ± 19	12 ± 19
Age at referral for study (median ± SD)	32 ± 18	40 ± 7	12 ± 11	28	34 ± 16	21	36	38 ± 21	36 ± 19	35 ± 18
Mean BS	10.5	11.8	0	6	0.5	8	6	8.6	6.1	7.9
% Patients with BS ≥ 2
• Epistaxis	54	100	0	0	0	100	0	21	30	38
• Cutaneous symptoms	58	50	0	0	0	0	0	47	25	38
• Minor wounds	8	13	0	0	0	0	0	26	16	15
• Oral cavity bleeding	46	38	0	0	0	0	0	21	10	22
• Gastrointestinal bleeding	31	33	0	0	0	0	0	26	21	23
• Tooth extraction	33	57	0	100	0	N/A	N/A	46	31	38
• Surgery	40	71	0	100	0	100	N/A	73	38	51
• Menorrhagia	100	100	0	N/A	0	N/A	100	67	62	76
• Postpartum hemorrhage	33	75	0	N/A	0	N/A	0	40	33	39
• Hematomas or hemarthrosis	8	0	0	0	0	0	0	11	16	10

The Table reflects the clinical characteristics of patients that were confirmed to have a final diagnosis consistent or not (in such case considered “presumably misdiagnosed”) with the previously suspected IPD, the total bleeding score, and the percentage of patients with clinical significant bleeding (grades 2 or 3) for each symptom. For each symptom the grades of bleeding severity ranged from 0 (absence of symptoms) to 3. Grade 1 was given when a patient reported the presence of bleeding, grade 2 if the symptom required evaluation by a physician but no active intervention, and grade 3 if there was some type of intervention. The final bleeding score was generated by summing the severity of all bleeding symptoms reported by the patient [16],[17].
Abbreviations: BS Bleeding score, BSS Bernard Soulier syndrome, CAMT congenital amegakaryocytic thrombocytopenia, CHS Chediak-Higashi syndrome, F Female, GT Glanzmann Thrombasthenia, HPS Hermansky-Pudlak syndrome, M Male, MYH9-RD MYH9 related disorder, N/A not applicable, SSD platelet secretion and signal transduction defects, THC2 thrombocytopenia 2.

ISSN: 1750-1172